Variant report

Variant	rs1914992
Chromosome Location	chr8:120988715-120988716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120978380..120980894-chr8:120986076..120988850,2	MCF-7	breast:
2	chr8:120981030..120983921-chr8:120987926..120990763,2	K562	blood:
3	chr8:120884447..120887297-chr8:120988136..120991127,2	MCF-7	breast:
4	chr8:120985045..120986649-chr8:120987660..120991345,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10105766	0.82[CHB][hapmap]
rs1106481	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1106482	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11987040	0.89[ASN][1000 genomes]
rs12678916	0.87[ASN][1000 genomes]
rs1464278	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554376	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs1814954	0.88[ASN][1000 genomes]
rs2102905	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2271900	0.83[CEU][hapmap]
rs28415366	0.86[ASN][1000 genomes]
rs28650977	0.91[ASN][1000 genomes]
rs28658252	0.86[ASN][1000 genomes]
rs2875929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875930	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs35767723	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4053282	0.80[CEU][hapmap]
rs4870970	0.82[JPT][hapmap]
rs4871819	0.92[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4871821	0.82[JPT][hapmap]
rs4871822	0.81[JPT][hapmap]
rs4871824	0.87[CEU][hapmap]
rs7823956	0.89[ASN][1000 genomes]
rs908945	0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs908946	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297608	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv968552	chr8:120988705-120994905	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
3	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
4	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
5	chr8:120978000-121013600	Weak transcription	Gastric	stomach
6	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:120979000-120990600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
10	chr8:120979600-120988800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
12	chr8:120983200-120989800	Weak transcription	Small Intestine	intestine
13	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:120984200-120990200	Weak transcription	Colonic Mucosa	Colon
15	chr8:120984200-120990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:120984400-120988800	Weak transcription	Ovary	ovary
17	chr8:120984600-120990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:120984600-120990600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:120984800-120988800	Weak transcription	Pancreas	Pancrea
20	chr8:120984800-120988800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
22	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:120986200-120990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
25	chr8:120986400-120988800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:120986400-120988800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:120986400-120989800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:120986400-120990200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:120986400-120990200	Weak transcription	Fetal Thymus	thymus
30	chr8:120986400-120990400	Weak transcription	Fetal Stomach	stomach
31	chr8:120986400-120999600	Weak transcription	Spleen	Spleen
32	chr8:120986600-120988800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:120986800-120990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:120987000-120989200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:120987000-120990800	Weak transcription	Adipose Nuclei	Adipose
36	chr8:120987200-120989800	Weak transcription	Brain Angular Gyrus	brain
37	chr8:120987400-120992200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:120987600-120989200	Enhancers	Psoas Muscle	Psoas
39	chr8:120987600-120990400	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:120987600-120990400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:120987600-120991200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr8:120987800-120992000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:120988000-120988800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:120988200-120989000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:120988200-120989400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:120988200-120990400	Weak transcription	Placenta	Placenta
47	chr8:120988400-120989200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:120988400-120989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:120988400-120989200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:120988400-120989200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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