Variant report

Variant	rs373670232
Chromosome Location	chr17:16945130-16945131
allele	G/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	CBX3	chr17:16945009-16945376	K562	blood:	n/a	n/a
2	MAZ	chr17:16944269-16946136	IMR90	lung:	n/a	n/a
3	MAFK	chr17:16944519-16945546	IMR90	lung:	n/a	chr17:16945082-16945097
4	ZNF143	chr17:16945082-16945753	K562	blood:	n/a	chr17:16945550-16945560
5	FOS	chr17:16945013-16945326	MCF10A-Er-Src	breast:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
6	POLR2A	chr17:16944366-16945696	U87	brain:	n/a	n/a
7	NFYB	chr17:16945012-16945803	Hela-S3	cervix:	n/a	chr17:16945619-16945634 chr17:16945661-16945675 chr17:16945660-16945675 chr17:16945621-16945633 chr17:16945660-16945675
8	MAX	chr17:16945036-16946121	HepG2	liver:	n/a	n/a
9	RCOR1	chr17:16945075-16945517	K562	blood:	n/a	n/a
10	SP1	chr17:16944243-16945770	A549	lung:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16944956-16944970 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
11	MXI1	chr17:16944242-16948097	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr17:16944949-16945729	H1-neurons	neurons:	n/a	n/a
13	EP300	chr17:16944968-16945240	SK-N-SH_RA	brain:	n/a	n/a
14	FOSL2	chr17:16944231-16945608	A549	lung:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
15	MAX	chr17:16945118-16945872	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:16944360-16945696	U87	brain:	n/a	n/a
17	MAX	chr17:16945032-16945464	H1-hESC	embryonic stem cell:	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	RCOR1	chr17:16944942-16945734	IMR90	lung:	n/a	n/a
21	MAX	chr17:16945024-16945898	HepG2	liver:	n/a	n/a
22	ZKSCAN1	chr17:16945122-16945715	Hela-S3	cervix:	n/a	n/a
23	RUNX3	chr17:16945005-16945738	GM12878	blood:	n/a	n/a
24	MXI1	chr17:16944456-16945709	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr17:16945054-16945641	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr17:16944369-16945837	HepG2	liver:	n/a	n/a
27	REST	chr17:16944656-16945518	A549	lung:	n/a	n/a
28	MXI1	chr17:16944558-16945715	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr17:16944623-16945486	K562	blood:	n/a	chr17:16945082-16945097
30	MTA3	chr17:16944950-16945559	GM12878	blood:	n/a	n/a
31	CHD2	chr17:16945086-16945870	Hela-S3	cervix:	n/a	n/a
32	MAFF	chr17:16944753-16945320	HepG2	liver:	n/a	chr17:16945081-16945099
33	JUND	chr17:16944581-16945727	K562	blood:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
34	MAX	chr17:16944404-16945753	K562	blood:	n/a	n/a
35	FOS	chr17:16945034-16945329	MCF10A-Er-Src	breast:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
36	MAX	chr17:16944292-16945900	HCT-116	colon:	n/a	n/a
37	REST	chr17:16944231-16945821	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr17:16944981-16945498	U87	brain:	n/a	n/a
39	SIN3AK20	chr17:16945029-16945917	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr17:16944807-16945243	PFSK-1	brain:	n/a	n/a
41	FOS	chr17:16944682-16945328	MCF10A-Er-Src	breast:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
42	SIN3AK20	chr17:16944411-16945643	A549	lung:	n/a	n/a
43	MAX	chr17:16944327-16945838	A549	lung:	n/a	n/a
44	MAX	chr17:16944541-16945748	Hela-S3	cervix:	n/a	n/a
45	NFYB	chr17:16945099-16945831	GM12878	blood:	n/a	chr17:16945619-16945634 chr17:16945661-16945675 chr17:16945660-16945675 chr17:16945621-16945633 chr17:16945660-16945675
46	SIX5	chr17:16944709-16945657	A549	lung:	n/a	n/a
47	CUX1	chr17:16945060-16945224	GM12878	blood:	n/a	n/a
48	SP1	chr17:16944982-16945916	HCT-116	colon:	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
49	JUND	chr17:16945049-16946093	A549	lung:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
50	CREB1	chr17:16945094-16945877	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16943176..16945630-chr17:17102978..17105800,2	K562	blood:
2	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
3	chr17:16944416..16947050-chr17:16979219..16983384,3	MCF-7	breast:
4	chr17:16944952..16946961-chr17:17072835..17074607,2	K562	blood:
5	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000206859	Chromatin interaction
ENSG00000260328	Chromatin interaction
ENSG00000225442	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16935800-16945200	Weak transcription	Aorta	Aorta
2	chr17:16944200-16945200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:16944200-16945200	Enhancers	Placenta	Placenta
4	chr17:16944200-16945400	Flanking Active TSS	HSMM	muscle
5	chr17:16944400-16945200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:16944400-16945200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:16944400-16945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:16944400-16945200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:16944400-16945200	Flanking Active TSS	Fetal Brain Female	brain
10	chr17:16944400-16945200	Enhancers	Fetal Stomach	stomach
11	chr17:16944400-16945200	Enhancers	Fetal Thymus	thymus
12	chr17:16944400-16945200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:16944400-16945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr17:16944400-16945400	Enhancers	Fetal Heart	heart
15	chr17:16944400-16945400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr17:16944400-16945400	Enhancers	Spleen	Spleen
17	chr17:16944400-16945400	Flanking Active TSS	A549	lung
18	chr17:16944400-16945400	Flanking Active TSS	Hela-S3	cervix
19	chr17:16944400-16945400	Flanking Active TSS	HSMMtube	muscle
20	chr17:16944400-16945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:16944400-16945600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr17:16944600-16945200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:16944600-16945200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr17:16944600-16945200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:16944600-16945200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr17:16944600-16945200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:16944600-16945200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:16944600-16945200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr17:16944600-16945200	Flanking Active TSS	Fetal Kidney	kidney
30	chr17:16944600-16945200	Enhancers	Gastric	stomach
31	chr17:16944600-16945200	Enhancers	Left Ventricle	heart
32	chr17:16944600-16945200	Enhancers	Lung	lung
33	chr17:16944600-16945200	Enhancers	Pancreas	Pancrea
34	chr17:16944600-16945200	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr17:16944600-16945200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr17:16944600-16945400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:16944600-16945400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:16944600-16945400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:16944600-16945400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:16944600-16945400	Flanking Active TSS	Liver	Liver
41	chr17:16944600-16945400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr17:16944600-16945400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:16944600-16945400	Flanking Active TSS	Colonic Mucosa	Colon
44	chr17:16944600-16945400	Flanking Active TSS	Fetal Lung	lung
45	chr17:16944600-16945400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr17:16944600-16945400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr17:16944600-16945400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr17:16944600-16945400	Flanking Active TSS	Dnd41	blood
49	chr17:16944600-16945400	Flanking Active TSS	K562	blood
50	chr17:16944600-16945600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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