Variant report

Variant	nsv912144
Chromosome Location	chr19:45636319-45687446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2815)
CpG islands
(count:2991)
Chromatin interactive
region (count:131)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2815 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45672227-45672246	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45657812-45658018	K562	blood:	n/a	n/a
3	ARID3A	chr19:45681488-45682369	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:45665343-45665471	K562	blood:	n/a	n/a
5	ARID3A	chr19:45657629-45658022	HepG2	liver:	n/a	n/a
6	ARID3A	chr19:45674646-45675015	K562	blood:	n/a	n/a
7	ARID3A	chr19:45681621-45682077	K562	blood:	n/a	n/a
8	ATF1	chr19:45681004-45682199	K562	blood:	n/a	n/a
9	ATF1	chr19:45674539-45674944	K562	blood:	n/a	n/a
10	ATF1	chr19:45657792-45658063	K562	blood:	n/a	n/a
11	ATF2	chr19:45640304-45640874	GM12878	blood:	n/a	n/a
12	ATF2	chr19:45651524-45651840	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr19:45680892-45682228	GM12878	blood:	n/a	n/a
14	ATF2	chr19:45676954-45677442	GM12878	blood:	n/a	n/a
15	ATF3	chr19:45681371-45682278	K562	blood:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
16	ATF3	chr19:45681519-45682167	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
17	ATF3	chr19:45681512-45682044	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
18	ATF3	chr19:45657751-45658061	K562	blood:	n/a	n/a
19	ATF3	chr19:45657779-45658113	K562	blood:	n/a	n/a
20	BACH1	chr19:45665315-45665512	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:45655706-45655900	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr19:45640356-45640817	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:45640368-45640859	GM12878	blood:	n/a	n/a
24	BCL3	chr19:45680260-45680594	GM12878	blood:	n/a	n/a
25	BCL3	chr19:45661187-45661595	A549	lung:	n/a	n/a
26	BCL3	chr19:45681211-45682392	A549	lung:	n/a	n/a
27	BCL3	chr19:45667623-45668207	GM12878	blood:	n/a	chr19:45668040-45668049
28	BCL3	chr19:45665257-45665611	A549	lung:	n/a	n/a
29	BCL3	chr19:45680734-45682586	A549	lung:	n/a	n/a
30	BCL3	chr19:45654310-45654968	A549	lung:	n/a	n/a
31	BCL3	chr19:45667219-45668376	A549	lung:	n/a	chr19:45667604-45667613 chr19:45668040-45668049
32	BCL3	chr19:45657681-45658109	A549	lung:	n/a	n/a
33	BCLAF1	chr19:45681169-45681637	GM12878	blood:	n/a	n/a
34	BCLAF1	chr19:45640269-45640953	GM12878	blood:	n/a	n/a
35	BCLAF1	chr19:45640350-45640989	GM12878	blood:	n/a	n/a
36	BCLAF1	chr19:45667776-45668310	GM12878	blood:	n/a	chr19:45668040-45668049
37	BHLHE40	chr19:45656163-45657367	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:45681236-45682748	GM12878	blood:	n/a	chr19:45682072-45682088
39	BHLHE40	chr19:45667744-45668176	GM12878	blood:	n/a	chr19:45667981-45667997
40	BHLHE40	chr19:45656810-45657118	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:45671912-45672323	K562	blood:	n/a	n/a
42	BHLHE40	chr19:45657729-45658170	HepG2	liver:	n/a	n/a
43	BHLHE40	chr19:45680390-45680590	K562	blood:	n/a	n/a
44	BHLHE40	chr19:45657657-45658200	K562	blood:	n/a	n/a
45	BHLHE40	chr19:45681463-45682616	A549	lung:	n/a	chr19:45682072-45682088
46	BHLHE40	chr19:45639806-45639962	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:45656667-45657209	K562	blood:	n/a	n/a
48	BHLHE40	chr19:45680931-45683148	K562	blood:	n/a	chr19:45682072-45682088
49	BHLHE40	chr19:45681127-45682679	HepG2	liver:	n/a	chr19:45682072-45682088
50	BHLHE40	chr19:45640355-45641085	GM12878	blood:	n/a	n/a

(count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45656349-45656399	SKMC	muscle:	n/a
2	chr19:45681828-45681878	Hela-S3	cervix:	n/a
3	chr19:45656349-45656399	SKMC	muscle:	n/a
4	chr19:45681828-45681878	Hela-S3	cervix:	n/a
5	chr19:45656123-45656173	GM06990	blood:	n/a
6	chr19:45681899-45681949	ProgFib	skin:	n/a
7	chr19:45647012-45647062	HCPEpiC	choroid plexus:	n/a
8	chr19:45680948-45680998	HUVEC	blood vessel:	n/a
9	chr19:45682064-45682114	HUVEC	blood vessel:	n/a
10	chr19:45683155-45683205	HEK293	kidney:	embryo
11	chr19:45664763-45664813	SK-N-MC	brain:	n/a
12	chr19:45654213-45654263	HCF	heart:	n/a
13	chr19:45681407-45681457	PFSK-1	brain:	n/a
14	chr19:45680948-45680998	AG09319	gingival:	n/a
15	chr19:45680969-45681019	U87	brain:	n/a
16	chr19:45659496-45659546	AoSMC	blood vessel:	n/a
17	chr19:45655294-45655344	ProgFib	skin:	n/a
18	chr19:45681899-45681949	HCT-116	colon:	n/a
19	chr19:45664609-45664659	ECC-1	luminal epithelium:	n/a
20	chr19:45644694-45644744	AG10803	skin:	n/a
21	chr19:45659496-45659546	GM06990	blood:	n/a
22	chr19:45680969-45681019	AG09309	skin:	n/a
23	chr19:45664665-45664715	SK-N-SH_RA	brain:	n/a
24	chr19:45663415-45663465	HNPCEpiC	eye:	n/a
25	chr19:45681503-45681553	IMR90	lung:	fetal
26	chr19:45663527-45663577	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:45681716-45681766	T-47D	breast:	n/a
28	chr19:45681510-45681560	AG09309	skin:	n/a
29	chr19:45681510-45681560	HRCEpiC	kidney:	n/a
30	chr19:45681987-45682037	AG04450	lung:	fetal
31	chr19:45647012-45647062	AG04450	lung:	fetal
32	chr19:45656349-45656399	RPTEC	kidney:	n/a
33	chr19:45664665-45664715	SK-N-SH	brain:	n/a
34	chr19:45649752-45649802	BE2_C	brain:	n/a
35	chr19:45654213-45654263	SKMC	muscle:	n/a
36	chr19:45681987-45682037	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:45663415-45663465	K562	blood:	n/a
38	chr19:45664609-45664659	HCF	heart:	n/a
39	chr19:45663415-45663465	U87	brain:	n/a
40	chr19:45666371-45666421	HUVEC	blood vessel:	n/a
41	chr19:45681664-45681714	NT2-D1	testis:	n/a
42	chr19:45681899-45681949	PrEC	prostate:	n/a
43	chr19:45682064-45682114	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:45683263-45683313	NH-A	brain:	n/a
45	chr19:45652975-45653025	SK-N-SH_RA	brain:	n/a
46	chr19:45647958-45648008	GM12878	blood:	n/a
47	chr19:45663472-45663522	RPTEC	kidney:	n/a
48	chr19:45649752-45649802	HCM	heart:	n/a
49	chr19:45666371-45666421	SK-N-MC	brain:	n/a
50	chr19:45681828-45681878	HCF	heart:	n/a

(count:131 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:45646614..45649721-chr19:45656300..45659382,4	K562	blood:
2	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
3	chr19:45638752..45643704-chr19:45645351..45650444,8	K562	blood:
4	chr19:45639467..45643704-chr19:45647170..45652290,6	K562	blood:
5	chr19:45663488..45666150-chr19:45752160..45753806,2	K562	blood:
6	chr19:45580675..45582484-chr19:45637452..45640125,3	MCF-7	breast:
7	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
8	chr17:16341750..16342479-chr19:45681510..45682384,2	Hela-S3	cervix:
9	chr19:45680559..45684359-chr19:45688843..45692525,5	MCF-7	breast:
10	chr19:45660357..45662141-chr19:45673721..45675839,2	MCF-7	breast:
11	chr19:45684922..45687661-chr19:45687892..45690396,2	MCF-7	breast:
12	chr19:45634602..45637002-chr19:45641982..45644604,3	MCF-7	breast:
13	chr19:45679504..45683518-chr19:45685241..45688488,5	MCF-7	breast:
14	chr19:45673701..45675733-chr19:45689481..45691712,2	MCF-7	breast:
15	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
16	chr19:45674624..45677350-chr19:45825375..45827077,2	K562	blood:
17	chr19:45580132..45582496-chr19:45644935..45646561,2	MCF-7	breast:
18	chr19:45595033..45597870-chr19:45646652..45650476,4	MCF-7	breast:
19	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
20	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
21	chr19:45664074..45668689-chr19:45680998..45684242,7	MCF-7	breast:
22	chr19:45629582..45632418-chr19:45640854..45642606,2	MCF-7	breast:
23	chr19:45633866..45636672-chr19:45652998..45655854,3	MCF-7	breast:
24	chr19:45654421..45658397-chr19:45679888..45682724,3	K562	blood:
25	chr19:45664265..45666960-chr19:45670245..45671965,2	K562	blood:
26	chr19:45634549..45636520-chr19:45641430..45643029,2	K562	blood:
27	chr19:45681162..45683480-chr19:45842144..45844672,3	K562	blood:
28	chr19:45628639..45633572-chr19:45633990..45640719,7	K562	blood:
29	chr19:45659656..45660364-chr19:45671813..45672348,2	MCF-7	breast:
30	chr19:45600305..45602430-chr19:45642699..45644377,2	K562	blood:
31	chr19:45665028..45665787-chr19:45690528..45691155,3	MCF-7	breast:
32	chr19:45664265..45666960-chr19:45670245..45671965,2	K562	blood:
33	chr19:45572577..45574874-chr19:45646801..45648501,2	MCF-7	breast:
34	chr19:45541123..45542652-chr19:45681977..45683668,2	MCF-7	breast:
35	chr19:45648191..45651318-chr19:45652739..45655136,4	MCF-7	breast:
36	chr19:45644647..45647008-chr3:14219501..14221381,2	MCF-7	breast:
37	chr19:45637342..45640694-chr19:45642011..45644916,3	K562	blood:
38	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
39	chr19:45615655..45617695-chr19:45672938..45674572,2	MCF-7	breast:
40	chr19:45667124..45670268-chr19:45680467..45683235,3	K562	blood:
41	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
42	chr19:45642091..45644409-chr19:45648487..45650244,2	MCF-7	breast:
43	chr19:45644450..45646816-chr19:45679774..45683109,3	MCF-7	breast:
44	chr19:45675726..45677672-chr19:45752421..45754832,2	MCF-7	breast:
45	chr19:45634602..45637002-chr19:45641982..45644604,3	MCF-7	breast:
46	chr19:45640971..45644367-chr19:45655076..45659170,3	K562	blood:
47	chr19:45503982..45506844-chr19:45681115..45683310,3	K562	blood:
48	chr19:45665641..45668911-chr19:45670300..45671967,3	K562	blood:
49	chr19:45652567..45654233-chr19:45681921..45683559,2	MCF-7	breast:
50	chr19:45684774..45686419-chr19:45697877..45700267,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKPD1-2	chr19:45653008-45653863	ENSG00000267037.1
2	lnc-NKPD1-1	chr19:45636076-45638227	ENSG00000250044
3	lnc-NKPD1-1	chr19:45639307-45641075	ENSG00000250044
4	lnc-NKPD1-1	chr19:45639251-45639608	ENSG00000267044.1
5	lnc-NKPD1-1	chr19:45640122-45640235	ENSG00000267044.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BLOC1S3	hsa-miR-378a-3p	chr19:45684405-45684426

Variant related genes	Relation type
ENSG00000267545	TF binding region
ENSG00000266958	TF binding region
ENSG00000267044	TF binding region
NKPD1	TF binding region
BLOC1S3	TF binding region
ENSG00000267037	TF binding region
TRAPPC6A	TF binding region
PPP1R37	TF binding region
ENSG00000267545	CpG island
ENSG00000266958	CpG island
ENSG00000267044	CpG island
NKPD1	CpG island
BLOC1S3	CpG island
ENSG00000267037	CpG island
TRAPPC6A	CpG island
PPP1R37	CpG island
ENSG00000104859	chromatin interactions
ENSG00000268341	chromatin interactions
ENSG00000267037	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000130201	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000267346	chromatin interactions
ENSG00000170684	chromatin interactions
ENSG00000104856	chromatin interactions
ENSG00000267545	chromatin interactions
ENSG00000142252	chromatin interactions
ENSG00000170860	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000172927	chromatin interactions
ENSG00000267044	chromatin interactions
ENSG00000104892	chromatin interactions
ENSG00000104879	chromatin interactions
ENSG00000266958	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000007255	chromatin interactions
ENSG00000225157	chromatin interactions
ENSG00000007047	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000154767	chromatin interactions
ABCG2	miRNA target sites
RPL15	miRNA target sites

Extended variants
information (count: 2331 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2331 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1114831	chr19:45636319-45636320	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568324714	chr19:45636320-45636321	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs375002206	chr19:45636349-45636350	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs146306939	chr19:45636372-45636373	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs369284935	chr19:45636399-45636400	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs139606659	chr19:45636414-45636415	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs553701206	chr19:45636424-45636425	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs566983328	chr19:45636435-45636436	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs111974551	chr19:45636458-45636459	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs555647867	chr19:45636530-45636531	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs563873610	chr19:45636549-45636550	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs544258478	chr19:45636557-45636558	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs557769997	chr19:45636561-45636562	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs577610015	chr19:45636578-45636579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs545719402	chr19:45636579-45636580	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs12463031	chr19:45636591-45636592	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs142883151	chr19:45636622-45636623	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs7258183	chr19:45636627-45636628	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542027238	chr19:45636632-45636633	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs575399344	chr19:45636637-45636638	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs532501969	chr19:45636676-45636677	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs530642644	chr19:45636718-45636719	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs550689338	chr19:45636733-45636734	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs564119360	chr19:45636739-45636740	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs566859060	chr19:45636756-45636757	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs148781439	chr19:45636766-45636767	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs567170239	chr19:45636781-45636782	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs533970617	chr19:45636790-45636791	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs535745811	chr19:45636860-45636861	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs117020942	chr19:45636997-45636998	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs569342273	chr19:45637018-45637019	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs537996540	chr19:45637052-45637053	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs114632914	chr19:45637123-45637124	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs192089784	chr19:45637155-45637156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs142410730	chr19:45637156-45637157	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs183967804	chr19:45637158-45637159	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs79881206	chr19:45637231-45637232	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs56764148	chr19:45637257-45637258	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150892906	chr19:45637279-45637280	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs558985084	chr19:45637288-45637289	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs575509990	chr19:45637293-45637294	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs544353424	chr19:45637295-45637296	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs8101046	chr19:45637344-45637345	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs115697134	chr19:45637390-45637391	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs560831835	chr19:45637424-45637425	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs552229044	chr19:45637441-45637442	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs546640326	chr19:45637476-45637477	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs373245405	chr19:45637495-45637496	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs73034821	chr19:45637501-45637502	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529632923	chr19:45637540-45637541	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2948 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45608000-45639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:45610400-45644400	Weak transcription	Aorta	Aorta
3	chr19:45617000-45651600	Weak transcription	Fetal Kidney	kidney
4	chr19:45617800-45640000	Weak transcription	Fetal Lung	lung
5	chr19:45618800-45639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:45618800-45639600	Weak transcription	Brain Substantia Nigra	brain
7	chr19:45620800-45643800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:45621200-45639800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:45621200-45644000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:45621600-45643800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:45621800-45639800	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:45622000-45639200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:45622200-45639600	Weak transcription	Fetal Brain Female	brain
14	chr19:45625000-45654200	Weak transcription	NHDF-Ad	bronchial
15	chr19:45625600-45637000	Weak transcription	Primary B cells from cord blood	blood
16	chr19:45625800-45636800	Weak transcription	Primary T cells from cord blood	blood
17	chr19:45626200-45644400	Weak transcription	Ovary	ovary
18	chr19:45626200-45653400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:45627000-45639200	Weak transcription	Brain Germinal Matrix	brain
20	chr19:45627200-45640000	Weak transcription	Adipose Nuclei	Adipose
21	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:45627800-45644000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:45629400-45639800	Weak transcription	Right Ventricle	heart
24	chr19:45629400-45644000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:45629600-45639600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:45629600-45640000	Weak transcription	Placenta	Placenta
27	chr19:45629600-45640000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:45629600-45643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:45629600-45644600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:45629800-45636800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:45629800-45636800	Weak transcription	Fetal Thymus	thymus
32	chr19:45629800-45638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:45629800-45638600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:45629800-45638800	Weak transcription	Left Ventricle	heart
35	chr19:45629800-45639600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:45629800-45639600	Weak transcription	Stomach Mucosa	stomach
37	chr19:45629800-45639800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:45629800-45639800	Weak transcription	Right Atrium	heart
39	chr19:45629800-45643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:45629800-45643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:45629800-45644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:45630000-45638600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:45630000-45639800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:45630000-45641400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:45630200-45636800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr19:45630800-45639400	Weak transcription	K562	blood
47	chr19:45630800-45653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:45631800-45641400	Strong transcription	Fetal Stomach	stomach
49	chr19:45632400-45639600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:45632600-45636600	Weak transcription	Primary B cells from peripheral blood	blood

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