Variant report

Variant	rs7503606
Chromosome Location	chr17:16945791-16945792
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	MAZ	chr17:16944269-16946136	IMR90	lung:	n/a	n/a
2	POLR2A	chr17:16945740-16946020	A549	lung:	n/a	n/a
3	SP1	chr17:16945259-16945833	H1-hESC	embryonic stem cell:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
4	FOS	chr17:16945468-16945809	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:16945780-16946076	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:16945346-16945996	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr17:16945694-16945923	GM12878	blood:	n/a	n/a
8	NFYB	chr17:16945012-16945803	Hela-S3	cervix:	n/a	chr17:16945619-16945634 chr17:16945661-16945675 chr17:16945660-16945675 chr17:16945621-16945633 chr17:16945660-16945675
9	MAX	chr17:16945036-16946121	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:16945288-16946227	MCF-7	breast:	n/a	n/a
11	MXI1	chr17:16944242-16948097	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr17:16945633-16945985	K562	blood:	n/a	n/a
13	POLR2A	chr17:16945760-16945903	HepG2	liver:	n/a	n/a
14	MAX	chr17:16945118-16945872	MCF-7	breast:	n/a	n/a
15	ELF1	chr17:16945255-16945862	GM12878	blood:	n/a	chr17:16945483-16945495 chr17:16945508-16945520
16	POLR2A	chr17:16945593-16946095	GM12892	blood:	n/a	n/a
17	POLR2A	chr17:16945762-16945925	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr17:16944131-16947555	IMR90	lung:	n/a	n/a
19	HCFC1	chr17:16944815-16945951	Hela-S3	cervix:	n/a	n/a
20	IRF1	chr17:16945401-16945834	K562	blood:	n/a	chr17:16945602-16945616 chr17:16945698-16945712
21	E2F6	chr17:16945256-16946203	K562	blood:	n/a	chr17:16945647-16945661 chr17:16945946-16945957 chr17:16945402-16945414 chr17:16945549-16945559 chr17:16945401-16945416
22	POLR2A	chr17:16945396-16946019	GM15510	blood:	n/a	n/a
23	PBX3	chr17:16945247-16945915	A549	lung:	n/a	chr17:16945663-16945672 chr17:16945667-16945687
24	MAX	chr17:16945024-16945898	HepG2	liver:	n/a	n/a
25	FOS	chr17:16945446-16945823	K562	blood:	n/a	n/a
26	MXI1	chr17:16944369-16945837	HepG2	liver:	n/a	n/a
27	PBX3	chr17:16945256-16945833	A549	lung:	n/a	chr17:16945663-16945672 chr17:16945667-16945687
28	SP2	chr17:16945359-16945811	K562	blood:	n/a	chr17:16945604-16945619 chr17:16945662-16945672 chr17:16945666-16945689 chr17:16945619-16945629
29	POLR2A	chr17:16945733-16946002	U87	brain:	n/a	n/a
30	POLR2A	chr17:16945755-16945887	HepG2	liver:	n/a	n/a
31	CHD2	chr17:16945086-16945870	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr17:16945638-16946061	Hela-S3	cervix:	n/a	n/a
33	ZNF143	chr17:16945302-16945793	GM12878	blood:	n/a	chr17:16945550-16945560
34	FOS	chr17:16945462-16945832	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:16945280-16946279	A549	lung:	n/a	n/a
36	IRF1	chr17:16945357-16945800	K562	blood:	n/a	chr17:16945602-16945616 chr17:16945698-16945712
37	SP1	chr17:16945434-16945872	H1-hESC	embryonic stem cell:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
38	GABPA	chr17:16945345-16945827	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:16945576-16946079	ProgFib	skin:	n/a	n/a
40	POLR2A	chr17:16945324-16946168	MCF-7	breast:	n/a	n/a
41	CHD2	chr17:16945200-16945824	GM12878	blood:	n/a	n/a
42	TAF1	chr17:16945262-16945881	ECC-1	luminal epithelium:	n/a	n/a
43	SP1	chr17:16945320-16945852	HepG2	liver:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
44	TAF1	chr17:16945765-16945909	K562	blood:	n/a	n/a
45	TAF1	chr17:16945172-16945826	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr17:16945714-16946042	Hela-S3	cervix:	n/a	n/a
47	MAX	chr17:16944292-16945900	HCT-116	colon:	n/a	n/a
48	REST	chr17:16944231-16945821	H1-neurons	neurons:	n/a	n/a
49	NR3C1	chr17:16945278-16946181	A549	lung:	n/a	n/a
50	POLR2A	chr17:16945403-16946078	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
2	chr17:16944416..16947050-chr17:16979219..16983384,3	MCF-7	breast:
3	chr17:16944952..16946961-chr17:17072835..17074607,2	K562	blood:
4	chr17:16945686..16947847-chr3:44621097..44624084,2	MCF-7	breast:
5	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction
ENSG00000214820	Chromatin interaction
ENSG00000206859	Chromatin interaction
ENSG00000225442	Chromatin interaction
ENSG00000260328	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3355439	chr17:16944752-16947600	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3341315	chr17:16945077-16947125	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr17:16945000-16947000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:16945000-16947200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr17:16945000-16948200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr17:16945200-16946800	Active TSS	Ovary	ovary
5	chr17:16945200-16947000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr17:16945200-16947000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:16945200-16947000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:16945200-16947000	Active TSS	Brain Anterior Caudate	brain
9	chr17:16945200-16947000	Active TSS	Fetal Brain Female	brain
10	chr17:16945200-16947000	Active TSS	Psoas Muscle	Psoas
11	chr17:16945200-16947000	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr17:16945200-16947000	Active TSS	Small Intestine	intestine
13	chr17:16945200-16947200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr17:16945200-16947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:16945200-16947200	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:16945200-16947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:16945200-16947400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr17:16945200-16947400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:16945200-16947600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16945200-16947600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:16945200-16947600	Active TSS	Fetal Kidney	kidney
22	chr17:16945200-16947600	Active TSS	Gastric	stomach
23	chr17:16945200-16947600	Active TSS	Pancreas	Pancrea
24	chr17:16945200-16947800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr17:16945200-16948400	Active TSS	Aorta	Aorta
26	chr17:16945200-16948400	Active TSS	Esophagus	oesophagus
27	chr17:16945400-16945800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr17:16945400-16946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:16945400-16946200	Active TSS	Primary hematopoietic stem cells	blood
30	chr17:16945400-16946200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:16945400-16946200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:16945400-16946200	Weak transcription	Fetal Brain Male	brain
33	chr17:16945400-16946200	Weak transcription	Fetal Heart	heart
34	chr17:16945400-16946200	Active TSS	HepG2	liver
35	chr17:16945400-16946400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:16945400-16946400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr17:16945400-16946400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:16945400-16946400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:16945400-16946400	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr17:16945400-16946400	Active TSS	Liver	Liver
41	chr17:16945400-16946400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr17:16945400-16946400	Weak transcription	Stomach Mucosa	stomach
43	chr17:16945400-16946400	Active TSS	K562	blood
44	chr17:16945400-16946600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:16945400-16946600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:16945400-16946600	Active TSS	Primary B cells from peripheral blood	blood
47	chr17:16945400-16946600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr17:16945400-16946600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr17:16945400-16946600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr17:16945400-16946600	Active TSS	Colonic Mucosa	Colon

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