Variant report

Variant	rs375813621
Chromosome Location	chr17:38219746-38219747
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	POLR2A	chr17:38219028-38219996	NB4	blood:	n/a	n/a
3	MAX	chr17:38219135-38220824	NB4	blood:	n/a	chr17:38220648-38220659
4	CEBPD	chr17:38219083-38219923	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr17:38219509-38219806	HepG2	liver:	n/a	n/a
6	FOXA1	chr17:38219550-38219856	T-47D	breast:	n/a	n/a
7	STAT5A	chr17:38219677-38219988	GM12878	blood:	n/a	chr17:38219860-38219872
8	MAZ	chr17:38218841-38220159	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr17:38219702-38219917	HepG2	liver:	n/a	n/a
10	MAZ	chr17:38218701-38219905	HepG2	liver:	n/a	n/a
11	ZBTB7A	chr17:38218158-38219960	K562	blood:	n/a	chr17:38218854-38218868
12	YY1	chr17:38219410-38219836	ECC-1	luminal epithelium:	n/a	chr17:38219728-38219742 chr17:38219734-38219745
13	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
14	HEY1	chr17:38219066-38219779	HepG2	liver:	n/a	chr17:38219117-38219132
15	TAF1	chr17:38219111-38219846	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr17:38219269-38220012	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr17:38219217-38220499	K562	blood:	n/a	n/a
18	POLR2A	chr17:38219041-38219772	ECC-1	luminal epithelium:	n/a	n/a
19	HDAC2	chr17:38219380-38220073	HepG2	liver:	n/a	n/a
20	UBTF	chr17:38219068-38219887	K562	blood:	n/a	n/a
21	CEBPB	chr17:38219723-38220087	IMR90	lung:	n/a	n/a
22	BHLHE40	chr17:38219388-38219928	K562	blood:	n/a	n/a
23	SIN3AK20	chr17:38219431-38219842	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr17:38218874-38220827	HepG2	liver:	n/a	chr17:38220648-38220659
25	POLR2A	chr17:38218906-38219894	HUVEC	blood vessel:	n/a	n/a
26	ZBTB7A	chr17:38218572-38219980	K562	blood:	n/a	chr17:38218854-38218868
27	MAX	chr17:38219487-38220000	K562	blood:	n/a	n/a
28	HCFC1	chr17:38219462-38219782	K562	blood:	n/a	n/a
29	YY1	chr17:38219260-38219794	GM12892	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745
30	SMARCB1	chr17:38219400-38220600	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:38219173-38219912	Hela-S3	cervix:	n/a	n/a
32	SMC3	chr17:38218939-38219978	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr17:38219353-38219746	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr17:38218683-38220292	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
35	MAZ	chr17:38218664-38219857	GM12878	blood:	n/a	n/a
36	YY1	chr17:38219419-38219980	K562	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745
37	NFIC	chr17:38219343-38219959	HepG2	liver:	n/a	n/a
38	PAX5	chr17:38219457-38219809	GM12892	blood:	n/a	n/a
39	HMGN3	chr17:38219073-38219925	K562	blood:	n/a	n/a
40	CEBPB	chr17:38219708-38220065	HepG2	liver:	n/a	n/a
41	HDAC2	chr17:38219608-38219860	K562	blood:	n/a	n/a
42	FOXA1	chr17:38219424-38220015	HepG2	liver:	n/a	n/a
43	MYC	chr17:38219191-38219923	K562	blood:	n/a	n/a
44	CEBPB	chr17:38219308-38220120	Hela-S3	cervix:	n/a	chr17:38219394-38219405
45	CREB1	chr17:38219026-38219796	A549	lung:	n/a	n/a
46	MAX	chr17:38219581-38219785	K562	blood:	n/a	n/a
47	FOXA2	chr17:38219093-38220014	A549	lung:	n/a	n/a
48	MXI1	chr17:38219377-38219843	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
50	YY1	chr17:38218919-38219837	K562	blood:	n/a	chr17:38219728-38219742 chr17:38219734-38219745 chr17:38219154-38219168 chr17:38219128-38219139 chr17:38219154-38219163

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	chr17:38219532..38222317-chr17:38232085..38234272,2	MCF-7	breast:
9	chr17:38219447..38219963-chr5:43017829..43018653,2	NB4	blood:
10	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
11	chr17:38217616..38219835-chr17:38296248..38299363,4	K562	blood:

Variant related genes	Relation type
MED24	TF binding region
ENSG00000253982	Chromatin interaction
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: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	chr17:38218800-38219800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr17:38218800-38219800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr17:38218800-38219800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:38218800-38219800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:38218800-38219800	Active TSS	Primary B cells from peripheral blood	blood
26	chr17:38218800-38219800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:38218800-38219800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:38218800-38219800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:38218800-38219800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:38218800-38219800	Active TSS	Esophagus	oesophagus
31	chr17:38218800-38219800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr17:38218800-38219800	Active TSS	Fetal Intestine Small	intestine
33	chr17:38218800-38219800	Active TSS	Fetal Stomach	stomach
34	chr17:38218800-38219800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr17:38218800-38219800	Active TSS	A549	lung
36	chr17:38218800-38219800	Bivalent/Poised TSS	GM12878-XiMat	blood
37	chr17:38218800-38219800	Bivalent/Poised TSS	HepG2	liver
38	chr17:38218800-38219800	Active TSS	NH-A	brain
39	chr17:38218800-38219800	Active TSS	NHEK	skin
40	chr17:38218800-38220000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:38218800-38220000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr17:38218800-38220000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr17:38218800-38220000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr17:38218800-38220000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr17:38218800-38220000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr17:38218800-38220000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr17:38218800-38220000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:38218800-38220000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:38218800-38220000	Active TSS	Brain Hippocampus Middle	brain
50	chr17:38218800-38220000	Active TSS	Pancreas	Pancrea

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