Variant report

Variant	esv3337861
Chromosome Location	chr19:56185190-56186188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:56186139-56186778	GM12878	blood:	n/a	n/a
2	BCL3	chr19:56186092-56187354	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670 chr19:56187225-56187234
3	BCL3	chr19:56186172-56186811	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
4	BCL3	chr19:56185716-56186845	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
5	BCL3	chr19:56186033-56186922	K562	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
6	CBX3	chr19:56184780-56185447	K562	blood:	n/a	chr19:56185123-56185134
7	CBX3	chr19:56186157-56186737	K562	blood:	n/a	n/a
8	CREB1	chr19:56186059-56186920	A549	lung:	n/a	n/a
9	CREB1	chr19:56186181-56186778	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr19:56185740-56185890	HUVEC	blood vessel:	n/a	n/a
11	E2F6	chr19:56186108-56186802	K562	blood:	n/a	chr19:56186187-56186197 chr19:56186188-56186198 chr19:56186653-56186662
12	E2F6	chr19:56186143-56186760	A549	lung:	n/a	chr19:56186187-56186197 chr19:56186188-56186198 chr19:56186653-56186662
13	EGR1	chr19:56186132-56186826	K562	blood:	n/a	chr19:56186544-56186554 chr19:56186653-56186663 chr19:56186475-56186484 chr19:56186815-56186825 chr19:56186433-56186442 chr19:56186338-56186347 chr19:56186620-56186633 chr19:56186336-56186347 chr19:56186319-56186329 chr19:56186617-56186631 chr19:56186335-56186349 chr19:56186336-56186347
14	ELF1	chr19:56186104-56187065	GM12878	blood:	n/a	chr19:56186776-56186788 chr19:56186813-56186825 chr19:56186323-56186335
15	ELF1	chr19:56186001-56187079	GM12878	blood:	n/a	chr19:56186776-56186788 chr19:56186813-56186825 chr19:56186323-56186335
16	EP300	chr19:56185384-56185449	K562	blood:	n/a	n/a
17	ETS1	chr19:56186121-56186770	A549	lung:	n/a	chr19:56186569-56186578 chr19:56186472-56186485 chr19:56186475-56186484 chr19:56186475-56186484 chr19:56186567-56186578 chr19:56186569-56186578 chr19:56186475-56186484 chr19:56186426-56186442 chr19:56186567-56186577 chr19:56186569-56186578 chr19:56186434-56186444 chr19:56186473-56186482 chr19:56186619-56186630 chr19:56186569-56186578 chr19:56186433-56186442 chr19:56186659-56186670 chr19:56186566-56186582 chr19:56186569-56186578 chr19:56186569-56186578 chr19:56186475-56186484 chr19:56186476-56186486 chr19:56186475-56186484
18	ETS1	chr19:56186159-56186917	K562	blood:	n/a	chr19:56186569-56186578 chr19:56186472-56186485 chr19:56186475-56186484 chr19:56186475-56186484 chr19:56186567-56186578 chr19:56186790-56186801 chr19:56186569-56186578 chr19:56186475-56186484 chr19:56186426-56186442 chr19:56186567-56186577 chr19:56186569-56186578 chr19:56186434-56186444 chr19:56186473-56186482 chr19:56186619-56186630 chr19:56186569-56186578 chr19:56186433-56186442 chr19:56186659-56186670 chr19:56186566-56186582 chr19:56186569-56186578 chr19:56186569-56186578 chr19:56186475-56186484 chr19:56186476-56186486 chr19:56186475-56186484
19	FOSL2	chr19:56186068-56186727	HepG2	liver:	n/a	chr19:56186657-56186666
20	FOXA1	chr19:56186119-56186779	HepG2	liver:	n/a	n/a
21	FOXM1	chr19:56186071-56186776	GM12878	blood:	n/a	n/a
22	FOXP2	chr19:56186143-56186870	PFSK-1	brain:	n/a	n/a
23	GABPA	chr19:56186163-56186826	GM12878	blood:	n/a	chr19:56186319-56186328 chr19:56186566-56186573
24	GABPA	chr19:56186107-56186779	GM12878	blood:	n/a	chr19:56186319-56186328 chr19:56186566-56186573
25	GABPA	chr19:56186170-56186893	SK-N-SH	brain:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
26	GABPA	chr19:56185875-56187128	K562	blood:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
27	GABPA	chr19:56186150-56186995	SK-N-SH	brain:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
28	GABPA	chr19:56186007-56186875	MCF-7	breast:	n/a	chr19:56186319-56186328 chr19:56186566-56186573
29	GABPA	chr19:56186144-56187011	HepG2	liver:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
30	GABPA	chr19:56186180-56187190	MCF-7	breast:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
31	GABPA	chr19:56186048-56186858	A549	lung:	n/a	chr19:56186319-56186328 chr19:56186566-56186573
32	GABPA	chr19:56185814-56187449	A549	lung:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
33	GABPA	chr19:56186156-56186908	HepG2	liver:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
34	GATA3	chr19:56186064-56186964	A549	lung:	n/a	chr19:56186383-56186390 chr19:56186499-56186507
35	HCFC1	chr19:56185639-56187350	Hela-S3	cervix:	n/a	n/a
36	HEY1	chr19:56186184-56186922	HepG2	liver:	n/a	chr19:56186656-56186671 chr19:56186419-56186434 chr19:56186547-56186562 chr19:56186355-56186370
37	HEY1	chr19:56186158-56186867	K562	blood:	n/a	chr19:56186656-56186671 chr19:56186419-56186434 chr19:56186547-56186562 chr19:56186355-56186370
38	HEY1	chr19:56186177-56186797	K562	blood:	n/a	chr19:56186656-56186671 chr19:56186419-56186434 chr19:56186547-56186562 chr19:56186355-56186370
39	JUND	chr19:56186036-56187209	A549	lung:	n/a	chr19:56186657-56186666
40	JUND	chr19:56186172-56186714	HepG2	liver:	n/a	chr19:56186657-56186666
41	MAX	chr19:56184737-56185432	K562	blood:	n/a	chr19:56185192-56185202
42	MAX	chr19:56186149-56187230	A549	lung:	n/a	n/a
43	MAX	chr19:56186064-56187079	K562	blood:	n/a	n/a
44	MAX	chr19:56185234-56185414	K562	blood:	n/a	n/a
45	MAX	chr19:56186163-56187127	A549	lung:	n/a	n/a
46	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
47	MAZ	chr19:56185625-56187879	IMR90	lung:	n/a	n/a
48	MTA3	chr19:56186044-56187224	GM12878	blood:	n/a	n/a
49	MXI1	chr19:56185791-56188335	SK-N-SH	brain:	n/a	n/a
50	MXI1	chr19:56186051-56187291	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56185537-56185587	NHDF-neo	bronchial:	n/a
2	chr19:56185417-56185467	GM12892	blood:	n/a
3	chr19:56185417-56185467	HNPCEpiC	eye:	n/a
4	chr19:56185417-56185467	HUVEC	blood vessel:	n/a
5	chr19:56185537-56185587	HL-60	blood:	n/a
6	chr19:56185537-56185587	NHBE	bronchial:	n/a
7	chr19:56185417-56185467	PANC-1	pancreas:	n/a
8	chr19:56185417-56185467	BJ	skin:	n/a
9	chr19:56185537-56185587	SK-N-SH	brain:	n/a
10	chr19:56185417-56185467	U87	brain:	n/a
11	chr19:56185417-56185467	K562	blood:	n/a
12	chr19:56185417-56185467	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:56185417-56185467	A549	lung:	n/a
14	chr19:56185537-56185587	GM12892	blood:	n/a
15	chr19:56185537-56185587	HNPCEpiC	eye:	n/a
16	chr19:56185417-56185467	HL-60	blood:	n/a
17	chr19:56185537-56185587	HEK293	kidney:	embryo
18	chr19:56185537-56185587	K562	blood:	n/a
19	chr19:56185537-56185587	BE2_C	brain:	n/a
20	chr19:56185417-56185467	GM12878	blood:	n/a
21	chr19:56185417-56185467	HRCEpiC	kidney:	n/a
22	chr19:56185417-56185467	SK-N-SH	brain:	n/a
23	chr19:56185537-56185587	AG09319	gingival:	n/a
24	chr19:56185537-56185587	PANC-1	pancreas:	n/a
25	chr19:56185417-56185467	SAEC	small airway:	n/a
26	chr19:56185417-56185467	ProgFib	skin:	n/a
27	chr19:56185537-56185587	HRCEpiC	kidney:	n/a
28	chr19:56185537-56185587	HCF	heart:	n/a
29	chr19:56185417-56185467	CMK	blood:	n/a
30	chr19:56185417-56185467	NH-A	brain:	n/a
31	chr19:56185417-56185467	LNCaP	prostate:	n/a
32	chr19:56185417-56185467	HRPEpiC	eye:	n/a
33	chr19:56185537-56185587	Caco-2	colon:	n/a
34	chr19:56185417-56185467	GM06990	blood:	n/a
35	chr19:56185537-56185587	SK-N-MC	brain:	n/a
36	chr19:56185537-56185587	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:56185417-56185467	AG09309	skin:	n/a
38	chr19:56185417-56185467	PrEC	prostate:	n/a
39	chr19:56185537-56185587	PrEC	prostate:	n/a
40	chr19:56185537-56185587	GM12891	blood:	n/a
41	chr19:56185537-56185587	HCM	heart:	n/a
42	chr19:56185537-56185587	AG04449	skin:	fetal
43	chr19:56185537-56185587	HepG2	liver:	n/a
44	chr19:56185537-56185587	GM12878	blood:	n/a
45	chr19:56185537-56185587	Hela-S3	cervix:	n/a
46	chr19:56185537-56185587	Hepatocyte	liver:	n/a
47	chr19:56185417-56185467	HCM	heart:	n/a
48	chr19:56185537-56185587	NB4	blood:	n/a
49	chr19:56185417-56185467	HCPEpiC	choroid plexus:	n/a
50	chr19:56185537-56185587	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
3	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
4	chr19:56186135..56186635-chr21:46237432..46237966,2	Hela-S3	cervix:
5	chr19:56171886..56172422-chr19:56184594..56185375,2	K562	blood:
6	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
7	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:
8	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
9	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP9-2	chr19:56186015-56186076	ENSG00000267523.1
2	lnc-NLRP9-2	chr19:56186015-56186081	ENSG00000267523.1

Variant related genes	Relation type
ENSG00000267523	TF binding region
EPN1	TF binding region
ENSG00000267523	CpG island
EPN1	CpG island
ENSG00000173581	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000211571	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000261221	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541729855	chr19:56185195-56185196	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs562025941	chr19:56185225-56185226	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs664684	chr19:56185250-56185251	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs149269403	chr19:56185259-56185260	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs368051544	chr19:56185276-56185277	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs570540752	chr19:56185279-56185280	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs147987516	chr19:56185320-56185321	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs372225276	chr19:56185356-56185357	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs141611535	chr19:56185371-56185372	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs150116395	chr19:56185392-56185393	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs138554269	chr19:56185410-56185411	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs369340285	chr19:56185438-56185439	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs372467427	chr19:56185439-56185440	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs549920806	chr19:56185446-56185447	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs570236951	chr19:56185472-56185473	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs536052231	chr19:56185490-56185491	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs555741577	chr19:56185517-56185518	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs566402042	chr19:56185538-56185539	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs534702334	chr19:56185552-56185553	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs144845046	chr19:56185593-56185594	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs59036809	chr19:56185608-56185609	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs371494737	chr19:56185623-56185624	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs192395170	chr19:56185651-56185652	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs543477060	chr19:56185655-56185656	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs146943256	chr19:56185751-56185752	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs8791	chr19:56185763-56185764	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184745070	chr19:56185776-56185777	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs151200677	chr19:56185777-56185778	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs369481128	chr19:56185780-56185781	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs542048028	chr19:56185788-56185789	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs561832127	chr19:56185823-56185824	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs545778319	chr19:56185831-56185832	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs572334661	chr19:56185866-56185867	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs189728146	chr19:56185879-56185880	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs373981551	chr19:56185902-56185903	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs368115101	chr19:56185906-56185907	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs181721499	chr19:56185927-56185928	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs112542173	chr19:56185969-56185970	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs371897089	chr19:56185993-56185994	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs532982602	chr19:56186005-56186006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs549857584	chr19:56186020-56186021	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
42	rs563378665	chr19:56186036-56186037	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
43	rs184495971	chr19:56186052-56186053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
44	rs376811094	chr19:56186078-56186079	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs369825857	chr19:56186083-56186084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs564315390	chr19:56186108-56186109	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs373127084	chr19:56186150-56186151	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
2	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
4	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
6	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
8	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
9	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
13	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
14	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
15	chr19:56179800-56185400	Strong transcription	NHEK	skin
16	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
17	chr19:56181600-56185800	Genic enhancers	Liver	Liver
18	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
19	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
23	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:56182000-56185600	Weak transcription	HSMM	muscle
26	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
31	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
32	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
34	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
35	chr19:56182000-56185800	Weak transcription	HMEC	breast
36	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
37	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
39	chr19:56182200-56185200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:56182200-56185400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr19:56182200-56185600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:56182200-56185600	Genic enhancers	A549	lung
43	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:56182400-56185200	Weak transcription	Brain Anterior Caudate	brain
46	chr19:56182400-56185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:56182400-56185800	Weak transcription	Brain Angular Gyrus	brain
48	chr19:56182400-56185800	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:56182400-56185800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:56182400-56186200	Weak transcription	Aorta	Aorta

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