Variant report

Variant	nsv579966
Chromosome Location	chr19:52075622-52131119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1344)
CpG islands
(count:1223)
Chromatin interactive
region (count:73)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52075575-52076111	K562	blood:	n/a	n/a
2	ARID3A	chr19:52096972-52096983	K562	blood:	n/a	n/a
3	ATF1	chr19:52075510-52076018	K562	blood:	n/a	n/a
4	ATF1	chr19:52097534-52097994	K562	blood:	n/a	n/a
5	ATF1	chr19:52124551-52124727	K562	blood:	n/a	n/a
6	ATF2	chr19:52124388-52124859	GM12878	blood:	n/a	n/a
7	ATF2	chr19:52113850-52114201	GM12878	blood:	n/a	n/a
8	ATF2	chr19:52110139-52110917	GM12878	blood:	n/a	n/a
9	ATF2	chr19:52105602-52106196	GM12878	blood:	n/a	n/a
10	ATF2	chr19:52110184-52110820	GM12878	blood:	n/a	n/a
11	ATF2	chr19:52097431-52097950	GM12878	blood:	n/a	n/a
12	ATF3	chr19:52097603-52097818	GM12878	blood:	n/a	n/a
13	ATF3	chr19:52097310-52097803	A549	lung:	n/a	n/a
14	ATF3	chr19:52097389-52097919	GM12878	blood:	n/a	n/a
15	ATF3	chr19:52097438-52097902	A549	lung:	n/a	n/a
16	ATF3	chr19:52097564-52097900	HepG2	liver:	n/a	n/a
17	ATF3	chr19:52111276-52111502	K562	blood:	n/a	n/a
18	ATF3	chr19:52097523-52097947	K562	blood:	n/a	n/a
19	BACH1	chr19:52097209-52097438	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:52089489-52090010	K562	blood:	n/a	n/a
21	BACH1	chr19:52091213-52091705	K562	blood:	n/a	n/a
22	BACH1	chr19:52089597-52089946	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr19:52111148-52111584	K562	blood:	n/a	n/a
24	BACH1	chr19:52098147-52098159	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr19:52097272-52097342	K562	blood:	n/a	n/a
26	BATF	chr19:52110191-52110754	GM12878	blood:	n/a	chr19:52110488-52110498 chr19:52110487-52110498
27	BATF	chr19:52090070-52090349	GM12878	blood:	n/a	n/a
28	BATF	chr19:52110246-52110678	GM12878	blood:	n/a	chr19:52110488-52110498 chr19:52110487-52110498
29	BATF	chr19:52124396-52124758	GM12878	blood:	n/a	n/a
30	BATF	chr19:52076143-52076355	GM12878	blood:	n/a	n/a
31	BATF	chr19:52118807-52119121	GM12878	blood:	n/a	n/a
32	BATF	chr19:52105865-52106107	GM12878	blood:	n/a	n/a
33	BATF	chr19:52113844-52114148	GM12878	blood:	n/a	n/a
34	BATF	chr19:52102436-52102722	GM12878	blood:	n/a	n/a
35	BATF	chr19:52113804-52114200	GM12878	blood:	n/a	n/a
36	BCL11A	chr19:52110274-52110619	GM12878	blood:	n/a	chr19:52110441-52110450
37	BCL11A	chr19:52124445-52124855	GM12878	blood:	n/a	n/a
38	BCL11A	chr19:52110198-52110838	GM12878	blood:	n/a	chr19:52110614-52110621 chr19:52110441-52110450
39	BCL11A	chr19:52124451-52124734	GM12878	blood:	n/a	n/a
40	BCL3	chr19:52110242-52110693	GM12878	blood:	n/a	chr19:52110614-52110621 chr19:52110441-52110450
41	BCL3	chr19:52110246-52110662	GM12878	blood:	n/a	chr19:52110614-52110621 chr19:52110441-52110450
42	BCL3	chr19:52097374-52098262	A549	lung:	n/a	chr19:52097706-52097719 chr19:52097907-52097920
43	BCLAF1	chr19:52111128-52111579	GM12878	blood:	n/a	chr19:52111413-52111422
44	BCLAF1	chr19:52124469-52124839	GM12878	blood:	n/a	n/a
45	BCLAF1	chr19:52097426-52097966	GM12878	blood:	n/a	chr19:52097706-52097719 chr19:52097907-52097920
46	BCLAF1	chr19:52113796-52114240	GM12878	blood:	n/a	n/a
47	BCLAF1	chr19:52124371-52124835	GM12878	blood:	n/a	n/a
48	BCLAF1	chr19:52105617-52106137	GM12878	blood:	n/a	n/a
49	BCLAF1	chr19:52097436-52098054	GM12878	blood:	n/a	chr19:52097706-52097719 chr19:52097907-52097920
50	BCLAF1	chr19:52110072-52110820	GM12878	blood:	n/a	chr19:52110614-52110621 chr19:52110184-52110193 chr19:52110441-52110450

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52097626-52097676	NHDF-neo	bronchial:	n/a
2	chr19:52104419-52104469	IMR90	lung:	fetal
3	chr19:52091761-52091811	Caco-2	colon:	n/a
4	chr19:52097626-52097676	NHDF-neo	bronchial:	n/a
5	chr19:52104419-52104469	IMR90	lung:	fetal
6	chr19:52091761-52091811	Caco-2	colon:	n/a
7	chr19:52097802-52097852	HCM	heart:	n/a
8	chr19:52102023-52102073	Caco-2	colon:	n/a
9	chr19:52104419-52104469	HAEpiC	amniotic membrane:	n/a
10	chr19:52076691-52076741	SKMC	muscle:	n/a
11	chr19:52091761-52091811	NT2-D1	testis:	n/a
12	chr19:52099597-52099647	BE2_C	brain:	n/a
13	chr19:52097905-52097955	SAEC	small airway:	n/a
14	chr19:52097802-52097852	HEK293	kidney:	embryo
15	chr19:52094375-52094425	HL-60	blood:	n/a
16	chr19:52097626-52097676	GM12878	blood:	n/a
17	chr19:52104419-52104469	Jurkat	blood:	n/a
18	chr19:52103425-52103475	PFSK-1	brain:	n/a
19	chr19:52107517-52107567	HEK293	kidney:	embryo
20	chr19:52104997-52105047	GM12878	blood:	n/a
21	chr19:52097905-52097955	BJ	skin:	n/a
22	chr19:52097802-52097852	NHDF-neo	bronchial:	n/a
23	chr19:52094375-52094425	ECC-1	luminal epithelium:	n/a
24	chr19:52097905-52097955	A549	lung:	n/a
25	chr19:52097626-52097676	HUVEC	blood vessel:	n/a
26	chr19:52104419-52104469	HCF	heart:	n/a
27	chr19:52104997-52105047	Caco-2	colon:	n/a
28	chr19:52101661-52101711	AG09319	gingival:	n/a
29	chr19:52107517-52107567	HCPEpiC	choroid plexus:	n/a
30	chr19:52104997-52105047	HCPEpiC	choroid plexus:	n/a
31	chr19:52104997-52105047	NB4	blood:	n/a
32	chr19:52099597-52099647	SK-N-MC	brain:	n/a
33	chr19:52104632-52104682	AG09309	skin:	n/a
34	chr19:52097276-52097326	Jurkat	blood:	n/a
35	chr19:52094375-52094425	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:52091761-52091811	BJ	skin:	n/a
37	chr19:52097835-52097885	HRCEpiC	kidney:	n/a
38	chr19:52101874-52101924	SK-N-SH_RA	brain:	n/a
39	chr19:52097905-52097955	AoSMC	blood vessel:	n/a
40	chr19:52104632-52104682	NHDF-neo	bronchial:	n/a
41	chr19:52091761-52091811	GM12878	blood:	n/a
42	chr19:52107517-52107567	NHDF-neo	bronchial:	n/a
43	chr19:52094375-52094425	HUVEC	blood vessel:	n/a
44	chr19:52076691-52076741	ovcar-3	ovarian:	n/a
45	chr19:52103425-52103475	RPTEC	kidney:	n/a
46	chr19:52099597-52099647	ProgFib	skin:	n/a
47	chr19:52114809-52114859	NT2-D1	testis:	n/a
48	chr19:52104419-52104469	HNPCEpiC	eye:	n/a
49	chr19:52107517-52107567	HUVEC	blood vessel:	n/a
50	chr19:52097626-52097676	ProgFib	skin:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:52076323..52078140-chr19:52090638..52092844,2	K562	blood:
2	chr19:52110880..52111497-chr19:52159833..52160812,2	MCF-7	breast:
3	chr19:51971012..51974396-chr19:52110052..52112916,3	K562	blood:
4	chr19:51620285..51621823-chr19:52126371..52128453,2	K562	blood:
5	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:
6	chr19:52097772..52099435-chr19:52099519..52102447,4	K562	blood:
7	chr19:52107187..52109556-chr19:52121301..52123809,2	K562	blood:
8	chr19:52107630..52109611-chr19:52113682..52115927,2	K562	blood:
9	chr19:51975869..51976891-chr19:52110720..52111476,3	MCF-7	breast:
10	chr19:52096005..52097791-chr19:52103717..52105932,2	K562	blood:
11	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:
12	chr19:52107630..52109611-chr19:52113682..52115927,2	K562	blood:
13	chr19:52073066..52077206-chr19:52096074..52099799,4	K562	blood:
14	chr19:51842011..51843612-chr19:52079759..52081610,2	K562	blood:
15	chr19:52006753..52009286-chr19:52077848..52080040,2	K562	blood:
16	chr19:52073774..52076492-chr19:52083212..52084974,2	K562	blood:
17	chr19:51914893..51917429-chr19:52094517..52097128,3	K562	blood:
18	chr19:52075666..52078013-chr19:52102124..52103680,2	K562	blood:
19	chr19:52108007..52109548-chr19:52111326..52112861,2	K562	blood:
20	chr19:52096393..52097985-chr19:52116487..52118530,2	MCF-7	breast:
21	chr19:52073774..52076492-chr19:52083212..52084974,2	K562	blood:
22	chr19:52078209..52080125-chr19:52092721..52094345,2	K562	blood:
23	chr19:52078209..52080125-chr19:52092721..52094345,2	K562	blood:
24	chr19:51869850..51871538-chr19:52096656..52099033,2	K562	blood:
25	chr19:52014752..52015262-chr19:52110932..52111494,2	K562	blood:
26	chr19:52095050..52101084-chr19:52109884..52113073,5	K562	blood:
27	chr19:52117245..52119688-chr19:52127612..52129163,2	K562	blood:
28	chr19:52110881..52111404-chr19:52311887..52312611,2	K562	blood:
29	chr19:52101743..52103546-chr19:52105521..52108118,2	K562	blood:
30	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
31	chr19:51986815..51988404-chr19:52108752..52111601,2	K562	blood:
32	chr19:52113611..52116176-chr19:52178728..52181472,2	MCF-7	breast:
33	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
34	chr19:52117245..52119688-chr19:52127612..52129163,2	K562	blood:
35	chr19:52110942..52111788-chr19:52140328..52140831,2	K562	blood:
36	chr19:51975902..51976858-chr19:52110641..52111904,7	K562	blood:
37	chr19:52050819..52052546-chr19:52117300..52119490,2	K562	blood:
38	chr19:52095454..52097791-chr19:52104410..52105932,2	K562	blood:
39	chr19:51984388..51985223-chr19:52110978..52111688,2	MCF-7	breast:
40	chr19:52074397..52078234-chr19:52085702..52087980,3	K562	blood:
41	chr19:52078911..52080739-chr19:52086596..52089437,3	K562	blood:
42	chr19:52110923..52111673-chr19:52140530..52141292,3	MCF-7	breast:
43	chr19:52127522..52129415-chr19:52131096..52132777,2	K562	blood:
44	chr19:52107187..52109556-chr19:52121301..52123809,2	K562	blood:
45	chr19:52049987..52053285-chr19:52087444..52089013,3	K562	blood:
46	chr19:51897624..51900440-chr19:52080487..52082233,2	K562	blood:
47	chr19:52110839..52111869-chr19:52159924..52160844,8	MCF-7	breast:
48	chr19:52083325..52084883-chr19:52087128..52088776,2	K562	blood:
49	chr19:52098792..52101789-chr19:52105276..52108057,2	K562	blood:
50	chr19:52110618..52112664-chr19:52114237..52116564,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC018755.11.1-1	chr19:52097202-52097633	NR_034159
2	lnc-AC018755.11.1-1	chr19:52095036-52096304	NR_034159
3	lnc-ZNF175-4	chr19:52124389-52124954	NONHSAT067457
4	lnc-ZNF175-1	chr19:52094163-52095761	NONHSAT067453
5	lnc-ZNF175-3	chr19:52109308-52109403	NONHSAT067455
6	lnc-ZNF175-3	chr19:52105456-52105735	NONHSAT067455
7	lnc-ZNF175-3	chr19:52104965-52104999	NONHSAT067455
8	lnc-ZNF175-2	chr19:52102542-52103723	ENSG00000267808.1

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF175	hsa-miR-374b-5p	chr19:52092196-52092215
2	ZNF175	hsa-miR-374b-5p	chr19:52092447-52092472
3	ZNF175	hsa-miR-374b-5p	chr19:52092690-52092710

Variant related genes	Relation type
ENSG00000267808	TF binding region
ZNF175	TF binding region
ENSG00000269388	TF binding region
RPL9P33	TF binding region
ENSG00000167765	TF binding region
ENSG00000267808	CpG island
ZNF175	CpG island
ENSG00000269388	CpG island
RPL9P33	CpG island
ENSG00000167765	CpG island
ENSG00000268839	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000267808	chromatin interactions
ENSG00000268957	chromatin interactions
ENSG00000105497	chromatin interactions
ENSG00000267905	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000268889	chromatin interactions
ENSG00000105501	chromatin interactions
ENSG00000167765	chromatin interactions
ENSG00000186806	chromatin interactions
ENSG00000269388	chromatin interactions

Extended variants
information (count: 2434 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2434 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6509552	chr19:52075622-52075623	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548718419	chr19:52075642-52075643	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs188577451	chr19:52075695-52075696	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs59361053	chr19:52075701-52075702	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552882247	chr19:52075719-52075720	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs572381857	chr19:52075771-52075772	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs539423525	chr19:52075779-52075780	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs558149372	chr19:52075811-52075812	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs576419237	chr19:52075816-52075817	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs543938298	chr19:52075828-52075829	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs114509867	chr19:52075851-52075852	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs77638887	chr19:52075856-52075857	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs60314341	chr19:52075874-52075875	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145614153	chr19:52075901-52075902	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs376850861	chr19:52075904-52075905	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs559765766	chr19:52075920-52075921	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs577392498	chr19:52076062-52076063	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs112732920	chr19:52076069-52076070	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs533691132	chr19:52076073-52076074	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs75474615	chr19:52076076-52076077	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs565996367	chr19:52076092-52076093	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs73050815	chr19:52076093-52076094	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2864109	chr19:52076133-52076134	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs75540873	chr19:52076231-52076232	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs139578737	chr19:52076246-52076247	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs576003209	chr19:52076258-52076259	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs534535898	chr19:52076359-52076360	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs546797340	chr19:52076402-52076403	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs181322258	chr19:52076443-52076444	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs185449250	chr19:52076448-52076449	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs537142369	chr19:52076451-52076452	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs58669479	chr19:52076460-52076461	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570082602	chr19:52076478-52076479	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs386810357	chr19:52076479-52076480	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs2305371	chr19:52076481-52076482	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs560347000	chr19:52076518-52076519	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs572382709	chr19:52076536-52076537	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs370434237	chr19:52076559-52076560	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs574264495	chr19:52076560-52076561	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs375509014	chr19:52076566-52076567	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs74918726	chr19:52076574-52076575	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368761332	chr19:52076576-52076577	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs112531314	chr19:52076595-52076596	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372388459	chr19:52076597-52076598	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs144093400	chr19:52076628-52076629	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs375453273	chr19:52076640-52076641	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368398989	chr19:52076667-52076668	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs78783069	chr19:52076678-52076679	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs374970332	chr19:52076681-52076682	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs545728474	chr19:52076692-52076693	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52073800-52075800	Active TSS	A549	lung
2	chr19:52074000-52075800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr19:52074000-52075800	Active TSS	K562	blood
4	chr19:52074000-52076000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:52074200-52075800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:52074600-52075800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:52074800-52075800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr19:52074800-52075800	Flanking Active TSS	Liver	Liver
9	chr19:52074800-52075800	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr19:52074800-52076000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:52074800-52076000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:52074800-52076000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr19:52074800-52077400	Flanking Active TSS	HUVEC	blood vessel
14	chr19:52075000-52075800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:52075000-52075800	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr19:52075000-52075800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr19:52075000-52075800	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr19:52075000-52075800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr19:52075000-52075800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:52075000-52075800	Flanking Active TSS	Fetal Brain Male	brain
21	chr19:52075000-52075800	Flanking Active TSS	Fetal Brain Female	brain
22	chr19:52075000-52075800	Flanking Active TSS	Left Ventricle	heart
23	chr19:52075000-52075800	Flanking Active TSS	Psoas Muscle	Psoas
24	chr19:52075000-52075800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr19:52075000-52075800	Flanking Active TSS	Dnd41	blood
26	chr19:52075000-52075800	Flanking Active TSS	NHEK	skin
27	chr19:52075000-52076000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52075000-52076000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr19:52075000-52076000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr19:52075000-52076000	Flanking Active TSS	Right Ventricle	heart
31	chr19:52075000-52076000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:52075000-52076000	Flanking Active TSS	HMEC	breast
33	chr19:52075000-52076200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:52075000-52076200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:52075000-52076200	Flanking Active TSS	NHLF	lung
36	chr19:52075000-52076400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:52075000-52076800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:52075000-52077000	Flanking Active TSS	Osteobl	bone
39	chr19:52075200-52075800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:52075200-52075800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:52075200-52075800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr19:52075200-52075800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:52075200-52075800	Enhancers	Pancreas	Pancrea
44	chr19:52075200-52075800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:52075200-52076000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:52075200-52076000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr19:52075200-52076000	Flanking Active TSS	HSMM	muscle
48	chr19:52075200-52076200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:52075200-52076200	Flanking Active TSS	NH-A	brain
50	chr19:52075200-52076400	Enhancers	Primary B cells from peripheral blood	blood

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