Variant report

Variant	rs191992905
Chromosome Location	chr7:150075711-150075712
allele	A/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	chr7:150075212-150077406	Hela-S3	cervix:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
2	GTF2F1	chr7:150075315-150076219	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr7:150074997-150077217	HEK293	kidney:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
4	HA-E2F1	chr7:150075281-150076588	MCF-7	breast:	n/a	chr7:150076363-150076372
5	POLR2A	chr7:150074307-150077919	GM18951	blood:	n/a	n/a
6	ESRRA	chr7:150072696-150078301	GM12878	blood:	n/a	chr7:150072882-150072895 chr7:150072884-150072894 chr7:150072882-150072894 chr7:150073704-150073717 chr7:150072884-150072894
7	POLR2A	chr7:150075079-150077308	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr7:150075105-150077290	K562	blood:	n/a	n/a
9	POLR2A	chr7:150074364-150077960	GM18526	blood:	n/a	n/a
10	ATF2	chr7:150075152-150076221	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:150075103-150077303	HL-60	blood:	n/a	n/a
12	POLR2A	chr7:150075214-150077212	PBDE	blood:	n/a	n/a
13	POLR2A	chr7:150075188-150077280	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:150075374-150075737	HCT-116	colon:	n/a	n/a
15	POLR2A	chr7:150074694-150076280	HepG2	liver:	n/a	n/a
16	STAT3	chr7:150075397-150075711	MCF10A-Er-Src	breast:	n/a	chr7:150075467-150075475
17	TFAP2A	chr7:150075226-150076620	Hela-S3	cervix:	n/a	chr7:150075381-150075393 chr7:150076270-150076282 chr7:150076270-150076282 chr7:150076340-150076348 chr7:150076340-150076348 chr7:150075381-150075393 chr7:150076270-150076282 chr7:150076270-150076282 chr7:150076340-150076348 chr7:150075381-150075393 chr7:150076270-150076282 chr7:150076208-150076219 chr7:150075381-150075393
18	TBL1XR1	chr7:150075060-150076519	K562	blood:	n/a	n/a
19	POLR2A	chr7:150075175-150077190	Hela-S3	cervix:	n/a	n/a
20	RELA	chr7:150074244-150078186	GM19099	blood:	n/a	n/a
21	SIN3A	chr7:150075280-150077307	H1-hESC	embryonic stem cell:	n/a	chr7:150076165-150076178 chr7:150076556-150076565
22	BCL3	chr7:150075192-150076092	A549	lung:	n/a	n/a
23	SMC3	chr7:150075201-150077229	Hela-S3	cervix:	n/a	n/a
24	RELA	chr7:150074363-150076488	GM18526	blood:	n/a	n/a
25	POLR2A	chr7:150075458-150075719	A549	lung:	n/a	n/a
26	POLR2A	chr7:150075196-150076635	GM12878	blood:	n/a	n/a
27	ATF2	chr7:150075293-150076092	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:150074096-150077376	H1-hESC	embryonic stem cell:	n/a	n/a
29	TEAD4	chr7:150075210-150075754	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr7:150075672-150076638	GM12892	blood:	n/a	chr7:150076382-150076396 chr7:150076126-150076145 chr7:150076163-150076172 chr7:150076129-150076137 chr7:150076388-150076399 chr7:150076164-150076178
31	TCF7L2	chr7:150075309-150077354	HCT-116	colon:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
32	MYC	chr7:150075250-150076563	K562	blood:	n/a	chr7:150076231-150076241
33	GABPA	chr7:150075608-150076709	K562	blood:	n/a	chr7:150076387-150076396
34	PML	chr7:150075370-150076366	MCF-7	breast:	n/a	n/a
35	UBTF	chr7:150075251-150075719	K562	blood:	n/a	n/a
36	POLR2A	chr7:150074688-150077365	HepG2	liver:	n/a	n/a
37	RUNX3	chr7:150075014-150076666	GM12878	blood:	n/a	n/a
38	RELA	chr7:150075179-150076554	GM18505	blood:	n/a	n/a
39	POLR2A	chr7:150075174-150076688	ECC-1	luminal epithelium:	n/a	n/a
40	CHD2	chr7:150075240-150076733	Hela-S3	cervix:	n/a	n/a
41	NR2F2	chr7:150075174-150076623	K562	blood:	n/a	n/a
42	SREBP1	chr7:150075515-150076889	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:150075237-150075732	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:150074330-150076601	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:150075151-150076650	HCT-116	colon:	n/a	n/a
46	UBTF	chr7:150075345-150075718	K562	blood:	n/a	n/a
47	CREB1	chr7:150075122-150076766	HepG2	liver:	n/a	n/a
48	SMC3	chr7:150075309-150076190	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:150075240-150077210	K562	blood:	n/a	n/a
50	MAZ	chr7:150075275-150077293	K562	blood:	n/a	chr7:150076231-150076241

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	chr7:150065873..150066638-chr7:150075580..150076156,2	NB4	blood:
4	chr7:150074371..150076020-chr7:150114930..150116474,2	MCF-7	breast:
5	chr7:150054220..150054841-chr7:150074964..150075932,2	K562	blood:
6	chr7:150075531..150076123-chrX:100662734..100663410,2	Hela-S3	cervix:
7	chr7:150053678..150054204-chr7:150075015..150075784,3	MCF-7	breast:
8	chr7:150018539..150023441-chr7:150073756..150077036,7	MCF-7	breast:
9	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:
10	chr11:9482102..9482787-chr7:150075710..150076563,2	Hela-S3	cervix:
11	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:

Variant related genes	Relation type
ZNF775	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000102393	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000126945	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000106526	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150071800-150076000	Weak transcription	Gastric	stomach
2	chr7:150073600-150076000	Flanking Active TSS	Dnd41	blood
3	chr7:150074000-150075800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:150074200-150075800	Flanking Active TSS	GM12878-XiMat	blood
5	chr7:150074800-150075800	Flanking Active TSS	HepG2	liver
6	chr7:150074800-150076200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150075000-150075800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:150075000-150076000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:150075000-150076000	Flanking Active TSS	Fetal Thymus	thymus
10	chr7:150075200-150075800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:150075200-150075800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:150075200-150075800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:150075200-150075800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr7:150075200-150075800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:150075200-150075800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr7:150075200-150075800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:150075200-150075800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr7:150075200-150075800	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr7:150075200-150075800	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr7:150075200-150075800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr7:150075200-150075800	Enhancers	Small Intestine	intestine
22	chr7:150075200-150075800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:150075200-150075800	Flanking Active TSS	K562	blood
24	chr7:150075200-150076000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:150075200-150076000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:150075200-150076000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:150075200-150076000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr7:150075200-150076000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:150075200-150076000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:150075200-150076000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr7:150075200-150076000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:150075200-150076000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr7:150075200-150076000	Flanking Active TSS	Liver	Liver
34	chr7:150075200-150076000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr7:150075200-150076000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:150075200-150076000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:150075200-150076000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:150075200-150076000	Flanking Active TSS	HSMMtube	muscle
39	chr7:150075200-150076200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:150075200-150076200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:150075200-150076200	Flanking Active TSS	Colonic Mucosa	Colon
42	chr7:150075200-150076200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:150075200-150076200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:150075200-150077400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:150075200-150077400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:150075400-150075800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr7:150075400-150075800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:150075400-150075800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:150075400-150075800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:150075400-150075800	Flanking Active TSS	Brain Angular Gyrus	brain

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