Variant report

Variant	rs529509156
Chromosome Location	chr17:38219896-38219897
allele	C/G
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	POLR2A	chr17:38219028-38219996	NB4	blood:	n/a	n/a
2	MAX	chr17:38219135-38220824	NB4	blood:	n/a	chr17:38220648-38220659
3	CEBPD	chr17:38219083-38219923	HepG2	liver:	n/a	n/a
4	MAX	chr17:38219826-38220198	K562	blood:	n/a	n/a
5	STAT5A	chr17:38219677-38219988	GM12878	blood:	n/a	chr17:38219860-38219872
6	MAZ	chr17:38218841-38220159	Hela-S3	cervix:	n/a	n/a
7	EP300	chr17:38219830-38219926	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr17:38219702-38219917	HepG2	liver:	n/a	n/a
9	MAZ	chr17:38218701-38219905	HepG2	liver:	n/a	n/a
10	ZBTB7A	chr17:38218158-38219960	K562	blood:	n/a	chr17:38218854-38218868
11	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
12	POLR2A	chr17:38219269-38220012	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr17:38219217-38220499	K562	blood:	n/a	n/a
14	HDAC2	chr17:38219380-38220073	HepG2	liver:	n/a	n/a
15	CEBPB	chr17:38219723-38220087	IMR90	lung:	n/a	n/a
16	BHLHE40	chr17:38219388-38219928	K562	blood:	n/a	n/a
17	MAX	chr17:38218874-38220827	HepG2	liver:	n/a	chr17:38220648-38220659
18	ZBTB7A	chr17:38218572-38219980	K562	blood:	n/a	chr17:38218854-38218868
19	MAX	chr17:38219487-38220000	K562	blood:	n/a	n/a
20	SMARCB1	chr17:38219400-38220600	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr17:38219173-38219912	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr17:38218939-38219978	Hela-S3	cervix:	n/a	n/a
23	ZBTB7A	chr17:38218683-38220292	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
24	YY1	chr17:38219419-38219980	K562	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745
25	NFIC	chr17:38219343-38219959	HepG2	liver:	n/a	n/a
26	HMGN3	chr17:38219073-38219925	K562	blood:	n/a	n/a
27	CEBPB	chr17:38219708-38220065	HepG2	liver:	n/a	n/a
28	FOXA1	chr17:38219424-38220015	HepG2	liver:	n/a	n/a
29	MAX	chr17:38219778-38219903	HepG2	liver:	n/a	n/a
30	MYC	chr17:38219191-38219923	K562	blood:	n/a	n/a
31	CEBPB	chr17:38219308-38220120	Hela-S3	cervix:	n/a	chr17:38219394-38219405
32	CEBPB	chr17:38219814-38220110	A549	lung:	n/a	n/a
33	FOXA2	chr17:38219093-38220014	A549	lung:	n/a	n/a
34	CEBPB	chr17:38219762-38220082	K562	blood:	n/a	n/a
35	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
36	MYC	chr17:38219571-38220120	NB4	blood:	n/a	n/a
37	FOSL2	chr17:38219751-38220239	A549	lung:	n/a	chr17:38219870-38219879
38	POLR2A	chr17:38219109-38220813	HL-60	blood:	n/a	n/a
39	ZNF263	chr17:38219117-38219927	HEK293-T-REx	kidney:	n/a	chr17:38219138-38219147 chr17:38219348-38219357 chr17:38219346-38219367
40	CEBPB	chr17:38219823-38220023	HepG2	liver:	n/a	n/a
41	MYC	chr17:38219107-38220018	K562	blood:	n/a	n/a
42	FOXP2	chr17:38219487-38219949	PFSK-1	brain:	n/a	n/a
43	CEBPB	chr17:38219759-38220076	A549	lung:	n/a	n/a
44	CEBPB	chr17:38219295-38220042	H1-hESC	embryonic stem cell:	n/a	chr17:38219394-38219405
45	POU2F2	chr17:38219773-38220081	GM12891	blood:	n/a	chr17:38220003-38220015 chr17:38219862-38219874
46	YY1	chr17:38218594-38219939	HepG2	liver:	n/a	chr17:38219728-38219742 chr17:38219734-38219745 chr17:38219154-38219168 chr17:38219128-38219139 chr17:38219154-38219163
47	SIN3AK20	chr17:38219688-38220031	PFSK-1	brain:	n/a	n/a
48	ZBTB7A	chr17:38218629-38220247	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
49	POLR2A	chr17:38219028-38219921	A549	lung:	n/a	n/a
50	POLR2A	chr17:38219047-38220132	H1-neurons	neurons:	n/a	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	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
6	chr17:38219845..38222489-chr17:38296563..38298263,2	MCF-7	breast:
7	chr17:38219532..38222317-chr17:38232085..38234272,2	MCF-7	breast:
8	chr17:38219447..38219963-chr5:43017829..43018653,2	NB4	blood:
9	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:

Variant related genes	Relation type
MED24	TF binding region
ENSG00000008838	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000126351	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:126 , 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	chr17:38218600-38220000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr17:38218600-38220000	Active TSS	Right Ventricle	heart
7	chr17:38218600-38220200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:38218600-38220200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:38218600-38220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:38218600-38220200	Active TSS	Psoas Muscle	Psoas
11	chr17:38218600-38220400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:38218600-38220400	Active TSS	Right Atrium	heart
13	chr17:38218600-38220400	Active TSS	HSMMtube	muscle
14	chr17:38218600-38221000	Active TSS	Aorta	Aorta
15	chr17:38218600-38222200	Active TSS	Ovary	ovary
16	chr17:38218800-38220000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:38218800-38220000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:38218800-38220000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:38218800-38220000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr17:38218800-38220000	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr17:38218800-38220000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:38218800-38220000	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr17:38218800-38220000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:38218800-38220000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:38218800-38220000	Active TSS	Brain Hippocampus Middle	brain
26	chr17:38218800-38220000	Active TSS	Pancreas	Pancrea
27	chr17:38218800-38220000	Active TSS	Stomach Mucosa	stomach
28	chr17:38218800-38220000	Active TSS	Spleen	Spleen
29	chr17:38218800-38220000	Active TSS	HMEC	breast
30	chr17:38218800-38220200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:38218800-38220200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr17:38218800-38220200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:38218800-38220200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:38218800-38220200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:38218800-38220200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:38218800-38220200	Active TSS	Primary T cells from cord blood	blood
37	chr17:38218800-38220200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr17:38218800-38220200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr17:38218800-38220200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr17:38218800-38220200	Active TSS	Brain Angular Gyrus	brain
41	chr17:38218800-38220200	Active TSS	Brain Anterior Caudate	brain
42	chr17:38218800-38220200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:38218800-38220200	Active TSS	Colon Smooth Muscle	Colon
44	chr17:38218800-38220200	Active TSS	Duodenum Mucosa	Duodenum
45	chr17:38218800-38220200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr17:38218800-38220200	Active TSS	Fetal Brain Female	brain
47	chr17:38218800-38220200	Active TSS	Gastric	stomach
48	chr17:38218800-38220200	Active TSS	Rectal Smooth Muscle	rectum
49	chr17:38218800-38220200	Active TSS	Small Intestine	intestine
50	chr17:38218800-38220200	Active TSS	NHDF-Ad	bronchial

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