Variant report

Variant	rs565463928
Chromosome Location	chr7:150075409-150075410
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	CTCF	chr7:150075320-150075470	HPF	lung:	n/a	n/a
2	TCF7L2	chr7:150075212-150077406	Hela-S3	cervix:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
3	GTF2F1	chr7:150075315-150076219	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr7:150074997-150077217	HEK293	kidney:	n/a	chr7:150076256-150076266 chr7:150076254-150076268
5	CTCF	chr7:150075360-150075510	HEK293	kidney:	n/a	n/a
6	CTCF	chr7:150075380-150075530	NB4	blood:	n/a	n/a
7	HA-E2F1	chr7:150075281-150076588	MCF-7	breast:	n/a	chr7:150076363-150076372
8	CTCF	chr7:150075320-150075470	AoAF	blood vessel:	n/a	n/a
9	RAD21	chr7:150075303-150075517	K562	blood:	n/a	n/a
10	CTCF	chr7:150075346-150075560	A549	lung:	n/a	n/a
11	CTCF	chr7:150075193-150075554	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:150074307-150077919	GM18951	blood:	n/a	n/a
13	ESRRA	chr7:150072696-150078301	GM12878	blood:	n/a	chr7:150072882-150072895 chr7:150072884-150072894 chr7:150072882-150072894 chr7:150073704-150073717 chr7:150072884-150072894
14	CTCF	chr7:150075380-150075530	Caco-2	colon:	n/a	n/a
15	CTCF	chr7:150075340-150075490	GM12865	blood:	n/a	n/a
16	CTCF	chr7:150075249-150075550	K562	blood:	n/a	n/a
17	POLR2A	chr7:150075079-150077308	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr7:150075105-150077290	K562	blood:	n/a	n/a
19	POLR2A	chr7:150074364-150077960	GM18526	blood:	n/a	n/a
20	CTCF	chr7:150075280-150075430	HVMF	connective:	n/a	n/a
21	ATF2	chr7:150075152-150076221	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:150075260-150075410	GM12864	blood:	n/a	n/a
23	POLR2A	chr7:150075103-150077303	HL-60	blood:	n/a	n/a
24	CTCF	chr7:150075340-150075490	BJ	skin:	n/a	n/a
25	CTCF	chr7:150075380-150075530	HBMEC	blood vessel:	n/a	n/a
26	ZKSCAN1	chr7:150075394-150075678	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:150075214-150077212	PBDE	blood:	n/a	n/a
28	CTCF	chr7:150075355-150075541	Medullo	brain:	n/a	n/a
29	FOXA2	chr7:150075140-150075549	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:150075188-150077280	GM12878	blood:	n/a	n/a
31	CTCF	chr7:150075266-150075632	K562	blood:	n/a	n/a
32	POLR2A	chr7:150075374-150075737	HCT-116	colon:	n/a	n/a
33	POLR2A	chr7:150074694-150076280	HepG2	liver:	n/a	n/a
34	HNF4G	chr7:150075128-150075494	HepG2	liver:	n/a	n/a
35	CTCF	chr7:150075362-150075516	Fibrobl	skin:	n/a	n/a
36	STAT3	chr7:150075397-150075711	MCF10A-Er-Src	breast:	n/a	chr7:150075467-150075475
37	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
38	ZNF143	chr7:150075346-150075631	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:150075340-150075490	HRE	kidney:	n/a	n/a
40	SMC3	chr7:150074840-150075679	HepG2	liver:	n/a	n/a
41	TBL1XR1	chr7:150075060-150076519	K562	blood:	n/a	n/a
42	POLR2A	chr7:150075175-150077190	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr7:150075340-150075490	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr7:150075359-150075542	ProgFib	skin:	n/a	n/a
45	RELA	chr7:150074244-150078186	GM19099	blood:	n/a	n/a
46	CTCF	chr7:150075380-150075530	HMF	breast:	n/a	n/a
47	SIN3A	chr7:150075280-150077307	H1-hESC	embryonic stem cell:	n/a	chr7:150076165-150076178 chr7:150076556-150076565
48	BCL3	chr7:150075192-150076092	A549	lung:	n/a	n/a
49	CTCF	chr7:150075400-150075550	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr7:150075320-150075470	GM12867	blood:	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	chr7:150053678..150054204-chr7:150075015..150075784,3	MCF-7	breast:
6	chr7:150018539..150023441-chr7:150073756..150077036,7	MCF-7	breast:
7	chr7:150073288..150077950-chr7:150093880..150099928,8	MCF-7	breast:
8	chr7:150017073..150026383-chr7:150074145..150079980,13	MCF-7	breast:

Variant related genes	Relation type
ZNF775	TF binding region
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	chr7:150070400-150075600	Weak transcription	Ovary	ovary
2	chr7:150070600-150075600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150071800-150075600	Weak transcription	Esophagus	oesophagus
4	chr7:150071800-150076000	Weak transcription	Gastric	stomach
5	chr7:150072600-150075600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:150072800-150075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:150073000-150075600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:150073600-150075600	Enhancers	Placenta	Placenta
9	chr7:150073600-150076000	Flanking Active TSS	Dnd41	blood
10	chr7:150074000-150075800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:150074200-150075800	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:150074400-150075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:150074800-150075600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:150074800-150075800	Flanking Active TSS	HepG2	liver
15	chr7:150074800-150076200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:150075000-150075600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:150075000-150075600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:150075000-150075800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:150075000-150076000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:150075000-150076000	Flanking Active TSS	Fetal Thymus	thymus
21	chr7:150075200-150075600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr7:150075200-150075600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:150075200-150075600	Enhancers	Brain Anterior Caudate	brain
24	chr7:150075200-150075600	Enhancers	Fetal Brain Male	brain
25	chr7:150075200-150075600	Enhancers	Lung	lung
26	chr7:150075200-150075600	Flanking Active TSS	Pancreas	Pancrea
27	chr7:150075200-150075600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:150075200-150075600	Enhancers	Right Atrium	heart
29	chr7:150075200-150075600	Flanking Active TSS	Thymus	Thymus
30	chr7:150075200-150075600	Flanking Active TSS	Hela-S3	cervix
31	chr7:150075200-150075600	Enhancers	NHEK	skin
32	chr7:150075200-150075800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:150075200-150075800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:150075200-150075800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:150075200-150075800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:150075200-150075800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:150075200-150075800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:150075200-150075800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr7:150075200-150075800	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr7:150075200-150075800	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr7:150075200-150075800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr7:150075200-150075800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr7:150075200-150075800	Enhancers	Small Intestine	intestine
44	chr7:150075200-150075800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr7:150075200-150075800	Flanking Active TSS	K562	blood
46	chr7:150075200-150076000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:150075200-150076000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:150075200-150076000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:150075200-150076000	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr7:150075200-150076000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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