Variant report

Variant	rs149571771
Chromosome Location	chr7:150075166-150075167
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	TCF7L2	chr7:150074997-150077217	HEK293	kidney:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
2	POLR2A	chr7:150074307-150077919	GM18951	blood:	n/a	n/a
3	ESRRA	chr7:150072696-150078301	GM12878	blood:	n/a	chr7:150072882-150072895 chr7:150072884-150072894 chr7:150072882-150072894 chr7:150073704-150073717 chr7:150072884-150072894
4	POLR2A	chr7:150075079-150077308	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:150075105-150077290	K562	blood:	n/a	n/a
6	POLR2A	chr7:150074364-150077960	GM18526	blood:	n/a	n/a
7	ATF2	chr7:150075152-150076221	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:150075103-150077303	HL-60	blood:	n/a	n/a
9	FOXA2	chr7:150075140-150075549	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:150074694-150076280	HepG2	liver:	n/a	n/a
11	HNF4G	chr7:150075128-150075494	HepG2	liver:	n/a	n/a
12	SMC3	chr7:150074840-150075679	HepG2	liver:	n/a	n/a
13	TBL1XR1	chr7:150075060-150076519	K562	blood:	n/a	n/a
14	RELA	chr7:150074244-150078186	GM19099	blood:	n/a	n/a
15	RELA	chr7:150074363-150076488	GM18526	blood:	n/a	n/a
16	POLR2A	chr7:150074096-150077376	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOXA2	chr7:150075064-150075641	A549	lung:	n/a	n/a
18	SP1	chr7:150075062-150075539	HepG2	liver:	n/a	chr7:150075483-150075494
19	ZMIZ1	chr7:150075013-150075603	K562	blood:	n/a	n/a
20	POLR2A	chr7:150074688-150077365	HepG2	liver:	n/a	n/a
21	RUNX3	chr7:150075014-150076666	GM12878	blood:	n/a	n/a
22	REST	chr7:150075140-150075513	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:150074330-150076601	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:150075151-150076650	HCT-116	colon:	n/a	n/a
25	CREB1	chr7:150075122-150076766	HepG2	liver:	n/a	n/a
26	SP1	chr7:150075014-150075681	A549	lung:	n/a	chr7:150075483-150075494
27	NFATC1	chr7:150074140-150076438	GM12878	blood:	n/a	chr7:150074283-150074297 chr7:150074322-150074336
28	BCLAF1	chr7:150075027-150076582	GM12878	blood:	n/a	chr7:150076205-150076218
29	TAF1	chr7:150075166-150075749	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr7:150075157-150075589	GM12878	blood:	n/a	n/a
31	RELA	chr7:150074301-150076631	GM18951	blood:	n/a	n/a
32	POLR2A	chr7:150074817-150076959	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr7:150075095-150075643	SK-N-SH	brain:	n/a	n/a
34	REST	chr7:150075029-150077659	H1-neurons	neurons:	n/a	chr7:150076556-150076566 chr7:150076024-150076031 chr7:150076561-150076574 chr7:150076217-150076230
35	EBF1	chr7:150074327-150075526	GM12878	blood:	n/a	chr7:150074867-150074878
36	POLR2A	chr7:150075093-150076336	U87	brain:	n/a	n/a
37	TEAD4	chr7:150075122-150077303	K562	blood:	n/a	n/a
38	EBF1	chr7:150075128-150075548	GM12878	blood:	n/a	n/a
39	FOXA2	chr7:150074727-150075670	HepG2	liver:	n/a	n/a
40	NR2F2	chr7:150075112-150076574	K562	blood:	n/a	n/a
41	POLR2A	chr7:150072892-150077940	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:150074988-150076756	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr7:150075132-150076563	GM12892	blood:	n/a	n/a
44	POLR2A	chr7:150074533-150077238	HL-60	blood:	n/a	n/a
45	HCFC1	chr7:150074928-150077860	Hela-S3	cervix:	n/a	n/a
46	TRIM28	chr7:150075166-150076566	K562	blood:	n/a	n/a
47	POLR2A	chr7:150074165-150077359	PANC-1	pancreas:	n/a	n/a
48	ARID3A	chr7:150074970-150075677	HepG2	liver:	n/a	n/a
49	HEY1	chr7:150075083-150076736	HepG2	liver:	n/a	n/a
50	FOXA1	chr7:150074736-150075570	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:150074289..150079503-chr7:150100156..150104408,10	MCF-7	breast:
3	chr7:150074371..150076020-chr7:150114930..150116474,2	MCF-7	breast:
4	chr7:150054220..150054841-chr7:150074964..150075932,2	K562	blood:
5	chr7:150026422..150030526-chr7:150071487..150075243,4	K562	blood:
6	chr7:150053678..150054204-chr7:150075015..150075784,3	MCF-7	breast:
7	chr7:150018539..150023441-chr7:150073756..150077036,7	MCF-7	breast:
8	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:
9	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:

Variant related genes	Relation type
ZNF775	TF binding region
ENSG00000188707	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
19	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
20	esv3373493	chr7:150075044-150077892	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr7:150068200-150075400	Weak transcription	HMEC	breast
2	chr7:150068800-150075200	Weak transcription	NH-A	brain
3	chr7:150069000-150075200	Weak transcription	Fetal Brain Male	brain
4	chr7:150070000-150075400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:150070000-150075400	Weak transcription	Aorta	Aorta
6	chr7:150070400-150075200	Weak transcription	Psoas Muscle	Psoas
7	chr7:150070400-150075600	Weak transcription	Ovary	ovary
8	chr7:150070600-150075200	Weak transcription	Small Intestine	intestine
9	chr7:150070600-150075600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:150070800-150075200	Weak transcription	NHEK	skin
11	chr7:150071400-150075200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:150071400-150075400	Weak transcription	Right Ventricle	heart
13	chr7:150071600-150075200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:150071600-150075200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:150071600-150075200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150071800-150075200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:150071800-150075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:150071800-150075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:150071800-150075200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:150071800-150075200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:150071800-150075200	Weak transcription	Right Atrium	heart
22	chr7:150071800-150075200	Weak transcription	NHDF-Ad	bronchial
23	chr7:150071800-150075400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:150071800-150075400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:150071800-150075400	Weak transcription	Fetal Brain Female	brain
26	chr7:150071800-150075600	Weak transcription	Esophagus	oesophagus
27	chr7:150071800-150076000	Weak transcription	Gastric	stomach
28	chr7:150072000-150075200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:150072000-150075200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:150072000-150075200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:150072000-150075200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:150072000-150075200	Weak transcription	Brain Substantia Nigra	brain
33	chr7:150072000-150075400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:150072000-150075400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:150072000-150075400	Weak transcription	NHLF	lung
36	chr7:150072400-150075200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:150072400-150075400	Enhancers	Primary B cells from peripheral blood	blood
38	chr7:150072600-150075200	Weak transcription	Fetal Stomach	stomach
39	chr7:150072600-150075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:150072800-150075200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr7:150072800-150075200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:150072800-150075200	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:150072800-150075200	Enhancers	Fetal Intestine Large	intestine
44	chr7:150072800-150075200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:150072800-150075200	Enhancers	HSMMtube	muscle
46	chr7:150072800-150075400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:150072800-150075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:150073000-150075200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:150073000-150075200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:150073000-150075200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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