Variant report

Variant	rs2256314
Chromosome Location	chr7:150708850-150708851
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	chr7:150708747-150708872	HepG2	liver:	n/a	n/a
2	NR2F2	chr7:150708709-150710347	K562	blood:	n/a	n/a
3	TBP	chr7:150708834-150708944	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
2	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1808593	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743506	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743507	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753482	0.82[AMR][1000 genomes]
rs891512	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	52 gene(s)	inside rSNPs	diseases
3	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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
5	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889473	chr7:150705413-150709571	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150706000-150709600	Genic enhancers	Placenta	Placenta
5	chr7:150706000-150709600	Weak transcription	Pancreas	Pancrea
6	chr7:150706000-150710200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:150706000-150710200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
9	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
10	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:150706200-150709000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:150706200-150710000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:150706200-150710200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
17	chr7:150706400-150710200	Weak transcription	Right Ventricle	heart
18	chr7:150706800-150710600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:150707600-150711000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:150707800-150710800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:150707800-150714200	Weak transcription	Dnd41	blood
22	chr7:150708000-150709000	Weak transcription	HUVEC	blood vessel
23	chr7:150708000-150709400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:150708000-150709400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:150708000-150709400	Weak transcription	Esophagus	oesophagus
26	chr7:150708000-150709600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:150708000-150709800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:150708000-150710000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:150708200-150709000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:150708200-150709400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:150708200-150709600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:150708200-150709800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:150708200-150709800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:150708200-150710000	Transcr. at gene 5' and 3'	K562	blood
35	chr7:150708200-150710200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:150708200-150710200	Weak transcription	Gastric	stomach
37	chr7:150708200-150710400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:150708200-150710400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr7:150708200-150711000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:150708200-150711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:150708400-150709000	Enhancers	Spleen	Spleen
42	chr7:150708400-150709400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:150708400-150709400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:150708400-150709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:150708400-150709400	Weak transcription	Fetal Lung	lung
46	chr7:150708400-150709400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:150708400-150709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:150708400-150709600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:150708400-150709600	Weak transcription	Lung	lung
50	chr7:150708400-150709800	Weak transcription	Fetal Heart	heart

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