Variant report

Variant	rs558397531
Chromosome Location	chr17:38219369-38219370
allele	C/T
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	CHD2	chr17:38219337-38219852	Hela-S3	cervix:	n/a	n/a
2	POU2F2	chr17:38219246-38219446	GM12878	blood:	n/a	chr17:38219392-38219405 chr17:38219392-38219405 chr17:38219375-38219385 chr17:38219375-38219383 chr17:38219368-38219389 chr17:38219374-38219384 chr17:38219369-38219382 chr17:38219373-38219386 chr17:38219393-38219411 chr17:38219368-38219390 chr17:38219376-38219383 chr17:38219369-38219382 chr17:38219372-38219386 chr17:38219375-38219384 chr17:38219395-38219409 chr17:38219391-38219412 chr17:38219370-38219388 chr17:38219374-38219386 chr17:38219373-38219386 chr17:38219372-38219387 chr17:38219369-38219382 chr17:38219398-38219407 chr17:38219373-38219384 chr17:38219375-38219385 chr17:38219370-38219384 chr17:38219392-38219405 chr17:38219396-38219409
3	POLR2A	chr17:38219028-38219996	NB4	blood:	n/a	n/a
4	MAX	chr17:38219135-38220824	NB4	blood:	n/a	chr17:38220648-38220659
5	CEBPD	chr17:38219083-38219923	HepG2	liver:	n/a	n/a
6	MAZ	chr17:38218841-38220159	Hela-S3	cervix:	n/a	n/a
7	CUX1	chr17:38219362-38219550	K562	blood:	n/a	n/a
8	POLR2A	chr17:38219088-38219672	HCT-116	colon:	n/a	n/a
9	STAT5A	chr17:38219339-38219659	GM12878	blood:	n/a	chr17:38219535-38219547
10	MAZ	chr17:38218701-38219905	HepG2	liver:	n/a	n/a
11	ZC3H11A	chr17:38219350-38219433	K562	blood:	n/a	n/a
12	ZBTB7A	chr17:38218158-38219960	K562	blood:	n/a	chr17:38218854-38218868
13	CTCF	chr17:38219320-38219470	SK-N-SH_RA	brain:	n/a	n/a
14	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
15	HEY1	chr17:38219066-38219779	HepG2	liver:	n/a	chr17:38219117-38219132
16	TAF1	chr17:38219111-38219846	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr17:38219269-38220012	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr17:38219217-38220499	K562	blood:	n/a	n/a
19	POLR2A	chr17:38219041-38219772	ECC-1	luminal epithelium:	n/a	n/a
20	UBTF	chr17:38219068-38219887	K562	blood:	n/a	n/a
21	BHLHE40	chr17:38219333-38219525	GM12878	blood:	n/a	n/a
22	MAX	chr17:38218874-38220827	HepG2	liver:	n/a	chr17:38220648-38220659
23	POLR2A	chr17:38218906-38219894	HUVEC	blood vessel:	n/a	n/a
24	ZBTB7A	chr17:38218572-38219980	K562	blood:	n/a	chr17:38218854-38218868
25	YY1	chr17:38219260-38219794	GM12892	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745
26	POLR2A	chr17:38219173-38219912	Hela-S3	cervix:	n/a	n/a
27	SMC3	chr17:38218939-38219978	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr17:38219353-38219746	ECC-1	luminal epithelium:	n/a	n/a
29	ZBTB7A	chr17:38218683-38220292	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
30	MAZ	chr17:38218664-38219857	GM12878	blood:	n/a	n/a
31	MYC	chr17:38219253-38219566	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFIC	chr17:38219343-38219959	HepG2	liver:	n/a	n/a
33	RCOR1	chr17:38219343-38219587	HepG2	liver:	n/a	n/a
34	POLR2A	chr17:38219087-38219673	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr17:38219321-38219561	K562	blood:	n/a	chr17:38219394-38219405
36	POU2F2	chr17:38219175-38219636	GM12891	blood:	n/a	chr17:38219392-38219405 chr17:38219392-38219405 chr17:38219375-38219385 chr17:38219375-38219383 chr17:38219368-38219389 chr17:38219374-38219384 chr17:38219369-38219382 chr17:38219373-38219386 chr17:38219393-38219411 chr17:38219368-38219390 chr17:38219376-38219383 chr17:38219369-38219382 chr17:38219372-38219386 chr17:38219375-38219384 chr17:38219395-38219409 chr17:38219391-38219412 chr17:38219370-38219388 chr17:38219374-38219386 chr17:38219373-38219386 chr17:38219372-38219387 chr17:38219369-38219382 chr17:38219398-38219407 chr17:38219373-38219384 chr17:38219375-38219385 chr17:38219370-38219384 chr17:38219392-38219405 chr17:38219396-38219409
37	HMGN3	chr17:38219073-38219925	K562	blood:	n/a	n/a
38	MYC	chr17:38219191-38219923	K562	blood:	n/a	n/a
39	CEBPB	chr17:38219308-38220120	Hela-S3	cervix:	n/a	chr17:38219394-38219405
40	CREB1	chr17:38219026-38219796	A549	lung:	n/a	n/a
41	FOXA2	chr17:38219093-38220014	A549	lung:	n/a	n/a
42	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
43	YY1	chr17:38218919-38219837	K562	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745 chr17:38219154-38219168 chr17:38219128-38219139 chr17:38219154-38219163
44	MAX	chr17:38219297-38219547	HepG2	liver:	n/a	n/a
45	POLR2A	chr17:38219020-38219759	K562	blood:	n/a	n/a
46	POLR2A	chr17:38219041-38219387	A549	lung:	n/a	n/a
47	POLR2A	chr17:38219109-38220813	HL-60	blood:	n/a	n/a
48	ZNF263	chr17:38219117-38219927	HEK293-T-REx	kidney:	n/a	chr17:38219138-38219147 chr17:38219348-38219357 chr17:38219346-38219367
49	ARID3A	chr17:38219335-38219593	HepG2	liver:	n/a	n/a
50	POLR2A	chr17:38219086-38219642	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38219361-38219411	LNCaP	prostate:	n/a
2	chr17:38219361-38219411	SKMC	muscle:	n/a
3	chr17:38219361-38219411	CMK	blood:	n/a
4	chr17:38219361-38219411	HEK293	kidney:	embryo
5	chr17:38219361-38219411	HIPEpiC	eye:	n/a
6	chr17:38219361-38219411	HCT-116	colon:	n/a
7	chr17:38219361-38219411	PrEC	prostate:	n/a
8	chr17:38219361-38219411	HPAEpiC	pulmonary alveolar:	n/a
9	chr17:38219361-38219411	GM12891	blood:	n/a
10	chr17:38219361-38219411	NHBE	bronchial:	n/a
11	chr17:38219361-38219411	BE2_C	brain:	n/a
12	chr17:38219361-38219411	SK-N-MC	brain:	n/a
13	chr17:38219361-38219411	HRCEpiC	kidney:	n/a
14	chr17:38219361-38219411	HCF	heart:	n/a
15	chr17:38219361-38219411	Hela-S3	cervix:	n/a
16	chr17:38219361-38219411	A549	lung:	n/a
17	chr17:38219361-38219411	HepG2	liver:	n/a
18	chr17:38219361-38219411	Hepatocyte	liver:	n/a
19	chr17:38219361-38219411	NT2-D1	testis:	n/a
20	chr17:38219361-38219411	AG09309	skin:	n/a
21	chr17:38219361-38219411	AG04449	skin:	fetal
22	chr17:38219361-38219411	AoSMC	blood vessel:	n/a
23	chr17:38219361-38219411	K562	blood:	n/a
24	chr17:38219361-38219411	HMEC	breast:	n/a
25	chr17:38219361-38219411	HUVEC	blood vessel:	n/a
26	chr17:38219361-38219411	NB4	blood:	n/a
27	chr17:38219361-38219411	AG04450	lung:	fetal
28	chr17:38219361-38219411	HCPEpiC	choroid plexus:	n/a
29	chr17:38219361-38219411	U87	brain:	n/a
30	chr17:38219361-38219411	GM12892	blood:	n/a
31	chr17:38219361-38219411	AG09319	gingival:	n/a
32	chr17:38219361-38219411	ovcar-3	ovarian:	n/a
33	chr17:38219361-38219411	GM19239	blood:	n/a
34	chr17:38219361-38219411	IMR90	lung:	fetal
35	chr17:38219361-38219411	H1-hESC	embryonic stem cell:	embryo
36	chr17:38219361-38219411	BJ	skin:	n/a
37	chr17:38219361-38219411	HRPEpiC	eye:	n/a
38	chr17:38219361-38219411	Caco-2	colon:	n/a
39	chr17:38219361-38219411	GM06990	blood:	n/a
40	chr17:38219361-38219411	MCF10A-Er-Src	breast:	n/a
41	chr17:38219361-38219411	RPTEC	kidney:	n/a
42	chr17:38219361-38219411	SK-N-SH_RA	brain:	n/a
43	chr17:38219361-38219411	NH-A	brain:	n/a
44	chr17:38219361-38219411	Jurkat	blood:	n/a
45	chr17:38219361-38219411	HNPCEpiC	eye:	n/a
46	chr17:38219361-38219411	T-47D	breast:	n/a
47	chr17:38219361-38219411	PFSK-1	brain:	n/a
48	chr17:38219361-38219411	HL-60	blood:	n/a
49	chr17:38219361-38219411	PANC-1	pancreas:	n/a
50	chr17:38219361-38219411	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
2	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
3	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
4	chr17:38219039..38222172-chr17:38223812..38229284,8	MCF-7	breast:
5	chr17:38219023..38219851-chr8:1710924..1711761,2	Hela-S3	cervix:
6	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
7	chr17:38181477..38183501-chr17:38217583..38219827,2	MCF-7	breast:
8	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
9	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:

Variant related genes	Relation type
MED24	TF binding region
MED24	CpG island
ENSG00000126368	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3393448	chr17:38218451-38220999	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38218400-38220200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:38218400-38220200	Active TSS	Brain Substantia Nigra	brain
3	chr17:38218400-38220400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr17:38218400-38220800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr17:38218600-38219800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr17:38218600-38219800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:38218600-38219800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:38218600-38219800	Active TSS	Colonic Mucosa	Colon
9	chr17:38218600-38219800	Active TSS	HSMM	muscle
10	chr17:38218600-38220000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:38218600-38220000	Active TSS	Right Ventricle	heart
12	chr17:38218600-38220200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr17:38218600-38220200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:38218600-38220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:38218600-38220200	Active TSS	Psoas Muscle	Psoas
16	chr17:38218600-38220400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:38218600-38220400	Active TSS	Right Atrium	heart
18	chr17:38218600-38220400	Active TSS	HSMMtube	muscle
19	chr17:38218600-38221000	Active TSS	Aorta	Aorta
20	chr17:38218600-38222200	Active TSS	Ovary	ovary
21	chr17:38218800-38219400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:38218800-38219400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:38218800-38219400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:38218800-38219400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr17:38218800-38219600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr17:38218800-38219800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr17:38218800-38219800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr17:38218800-38219800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr17:38218800-38219800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:38218800-38219800	Active TSS	Primary B cells from peripheral blood	blood
31	chr17:38218800-38219800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:38218800-38219800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:38218800-38219800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:38218800-38219800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:38218800-38219800	Active TSS	Esophagus	oesophagus
36	chr17:38218800-38219800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38218800-38219800	Active TSS	Fetal Intestine Small	intestine
38	chr17:38218800-38219800	Active TSS	Fetal Stomach	stomach
39	chr17:38218800-38219800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr17:38218800-38219800	Active TSS	A549	lung
41	chr17:38218800-38219800	Bivalent/Poised TSS	GM12878-XiMat	blood
42	chr17:38218800-38219800	Bivalent/Poised TSS	HepG2	liver
43	chr17:38218800-38219800	Active TSS	NH-A	brain
44	chr17:38218800-38219800	Active TSS	NHEK	skin
45	chr17:38218800-38220000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:38218800-38220000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:38218800-38220000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:38218800-38220000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr17:38218800-38220000	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr17:38218800-38220000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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