Variant report

Variant	rs187963073
Chromosome Location	chr7:150780245-150780246
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	POLR2A	chr7:150779935-150780888	GM18505	blood:	n/a	n/a
2	JUND	chr7:150779953-150780968	K562	blood:	n/a	chr7:150780515-150780523 chr7:150780135-150780144 chr7:150780428-150780437
3	CREB1	chr7:150779897-150781161	K562	blood:	n/a	n/a
4	BHLHE40	chr7:150779972-150780891	K562	blood:	n/a	chr7:150780784-150780800 chr7:150780733-150780749
5	POLR2A	chr7:150780192-150780799	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr7:150779909-150781040	GM12878	blood:	n/a	chr7:150780683-150780692
7	ZBTB7A	chr7:150779855-150780973	ECC-1	luminal epithelium:	n/a	chr7:150780751-150780762
8	SIN3AK20	chr7:150779799-150780977	PANC-1	pancreas:	n/a	n/a
9	HCFC1	chr7:150780006-150781043	K562	blood:	n/a	n/a
10	POLR2A	chr7:150771355-150780971	HepG2	liver:	n/a	n/a
11	REST	chr7:150780093-150780376	SK-N-SH	brain:	n/a	n/a
12	PML	chr7:150779893-150780758	K562	blood:	n/a	n/a
13	SP1	chr7:150780131-150781018	A549	lung:	n/a	chr7:150780132-150780144 chr7:150780414-150780424 chr7:150780133-150780147 chr7:150780662-150780676 chr7:150780133-150780143 chr7:150780394-150780403 chr7:150780427-150780436 chr7:150780798-150780810 chr7:150780132-150780144 chr7:150780800-150780809 chr7:150780661-150780673 chr7:150780663-150780672 chr7:150780134-150780143 chr7:150780133-150780142
14	POLR2A	chr7:150780047-150780912	HEK293	kidney:	n/a	n/a
15	CREB1	chr7:150780120-150781102	A549	lung:	n/a	n/a
16	SIN3AK20	chr7:150780155-150780397	HepG2	liver:	n/a	n/a
17	HDAC2	chr7:150779874-150780378	K562	blood:	n/a	n/a
18	POLR2A	chr7:150780144-150780911	GM15510	blood:	n/a	n/a
19	CHD2	chr7:150780171-150780918	K562	blood:	n/a	chr7:150780565-150780575
20	POLR2A	chr7:150779923-150780900	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:150780189-150780909	GM19099	blood:	n/a	n/a
22	POLR2A	chr7:150779750-150781082	SK-N-MC	brain:	n/a	n/a
23	EP300	chr7:150779994-150780347	K562	blood:	n/a	n/a
24	GABPA	chr7:150779970-150781079	K562	blood:	n/a	chr7:150780134-150780143
25	POLR2A	chr7:150779794-150781006	PANC-1	pancreas:	n/a	n/a
26	TAF1	chr7:150779758-150780832	K562	blood:	n/a	n/a
27	POLR2A	chr7:150779892-150781497	IMR90	lung:	n/a	n/a
28	POLR2A	chr7:150777099-150780798	K562	blood:	n/a	n/a
29	POLR2A	chr7:150780084-150780916	GM18951	blood:	n/a	n/a
30	POLR2A	chr7:150780174-150780671	MCF-7	breast:	n/a	n/a
31	TBL1XR1	chr7:150780119-150781435	K562	blood:	n/a	n/a
32	MYC	chr7:150779942-150781100	K562	blood:	n/a	n/a
33	E2F6	chr7:150780120-150780838	K562	blood:	n/a	chr7:150780134-150780143 chr7:150780424-150780436 chr7:150780483-150780492 chr7:150780314-150780323 chr7:150780569-150780578
34	RUNX3	chr7:150780171-150780851	GM12878	blood:	n/a	n/a
35	CCNT2	chr7:150779406-150780927	K562	blood:	n/a	chr7:150780134-150780143 chr7:150780800-150780809 chr7:150780128-150780137 chr7:150780394-150780403
36	POLR2A	chr7:150779759-150780292	K562	blood:	n/a	n/a
37	HEY1	chr7:150777076-150780386	K562	blood:	n/a	chr7:150778008-150778023
38	IRF1	chr7:150779930-150780974	K562	blood:	n/a	chr7:150780659-150780673 chr7:150780130-150780144
39	SIN3AK20	chr7:150780096-150781044	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr7:150780067-150780797	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:150780169-150780997	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:150780137-150780710	U87	brain:	n/a	n/a
43	POLR2A	chr7:150780098-150780710	U87	brain:	n/a	n/a
44	MAZ	chr7:150777093-150781017	K562	blood:	n/a	chr7:150778013-150778023
45	POLR2A	chr7:150780201-150780838	GM18526	blood:	n/a	n/a
46	ZNF143	chr7:150780173-150780979	GM12878	blood:	n/a	chr7:150780475-150780493
47	HEY1	chr7:150780053-150780898	HepG2	liver:	n/a	chr7:150780653-150780668
48	SIN3AK20	chr7:150779866-150781098	MCF-7	breast:	n/a	n/a
49	HEY1	chr7:150779127-150780403	K562	blood:	n/a	n/a
50	MAZ	chr7:150779881-150780995	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155049689..155051785-chr7:150780053..150782856,2	MCF-7	breast:
2	chr7:150754830..150755615-chr7:150780087..150780650,2	MCF-7	breast:

Variant related genes	Relation type
FASTK	TF binding region
TMUB1	TF binding region
AGAP3	TF binding region
ENSG00000143590	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164885	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889479	chr7:150736382-150785321	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
19	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv889483	chr7:150773165-150787046	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
21	nsv889484	chr7:150774308-150787046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
22	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
23	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
24	esv3406348	chr7:150779369-150781767	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 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	chr7:150776800-150781000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:150776800-150781200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:150777000-150781000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:150777200-150780600	Active TSS	Small Intestine	intestine
5	chr7:150777200-150780800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:150777600-150780600	Enhancers	Fetal Brain Male	brain
7	chr7:150779400-150780400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:150779600-150780800	Active TSS	Aorta	Aorta
9	chr7:150779600-150781000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:150779600-150781000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:150779600-150781000	Active TSS	Fetal Kidney	kidney
12	chr7:150779800-150780600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:150779800-150780600	Active TSS	Gastric	stomach
14	chr7:150779800-150780800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:150779800-150780800	Active TSS	Psoas Muscle	Psoas
16	chr7:150779800-150780800	Active TSS	GM12878-XiMat	blood
17	chr7:150779800-150780800	Active TSS	NHEK	skin
18	chr7:150779800-150781000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:150779800-150781000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:150779800-150781000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:150780000-150780400	Active TSS	Fetal Lung	lung
22	chr7:150780000-150780600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:150780000-150780600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:150780000-150780600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:150780000-150780600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:150780000-150780600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:150780000-150780600	Active TSS	Liver	Liver
28	chr7:150780000-150780600	Active TSS	Fetal Heart	heart
29	chr7:150780000-150780600	Active TSS	Placenta	Placenta
30	chr7:150780000-150780600	Active TSS	Fetal Thymus	thymus
31	chr7:150780000-150780600	Active TSS	Lung	lung
32	chr7:150780000-150780600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr7:150780000-150780600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:150780000-150780600	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:150780000-150780600	Active TSS	Right Atrium	heart
36	chr7:150780000-150780600	Active TSS	Right Ventricle	heart
37	chr7:150780000-150780600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr7:150780000-150780600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:150780000-150780600	Active TSS	Thymus	Thymus
40	chr7:150780000-150780600	Active TSS	Dnd41	blood
41	chr7:150780000-150780600	Active TSS	HMEC	breast
42	chr7:150780000-150780600	Active TSS	HUVEC	blood vessel
43	chr7:150780000-150780800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:150780000-150780800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:150780000-150780800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:150780000-150780800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:150780000-150780800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:150780000-150780800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:150780000-150780800	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr7:150780000-150780800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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