Variant report

Variant	rs1984977
Chromosome Location	chr8:120888431-120888432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10107579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955943	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11995536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12548715	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16893258	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2037346	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2326379	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28571066	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870986	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870988	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4870991	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871744	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5022559	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469878	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6980679	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6981618	0.83[ASN][1000 genomes]
rs6982701	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7000669	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005380	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7013639	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018286	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703111	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703112	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73703114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814294	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7840156	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840728	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs955372	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918814	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9918815	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9987332	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	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
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885600-120889000	Active TSS	Ovary	ovary
2	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120885800-120888600	Active TSS	Colon Smooth Muscle	Colon
4	chr8:120885800-120888600	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:120885800-120889000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:120885800-120889600	Active TSS	Fetal Muscle Leg	muscle
7	chr8:120886000-120888800	Active TSS	Gastric	stomach
8	chr8:120886400-120889200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:120886400-120889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:120887200-120888600	Active TSS	Fetal Muscle Trunk	muscle
11	chr8:120887200-120888600	Enhancers	Left Ventricle	heart
12	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
14	chr8:120887600-120889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:120887600-120889200	Enhancers	Liver	Liver
16	chr8:120887600-120890000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:120887800-120888600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:120887800-120888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:120887800-120889200	Enhancers	Fetal Intestine Small	intestine
21	chr8:120887800-120889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:120887800-120889400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:120887800-120889600	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:120887800-120890000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:120887800-120890000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:120888000-120889600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:120888000-120890200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:120888200-120888600	Enhancers	Adipose Nuclei	Adipose
30	chr8:120888200-120888600	Enhancers	Fetal Intestine Large	intestine
31	chr8:120888200-120888600	Flanking Active TSS	Psoas Muscle	Psoas
32	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
33	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
34	chr8:120888400-120888600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:120888400-120888600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr8:120888400-120888600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr8:120888400-120888600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr8:120888400-120888600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr8:120888400-120888600	Enhancers	Fetal Stomach	stomach
40	chr8:120888400-120888600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr8:120888400-120888600	Enhancers	Right Ventricle	heart
42	chr8:120888400-120888600	Bivalent/Poised TSS	Osteobl	bone
43	chr8:120888400-120888800	Enhancers	Esophagus	oesophagus
44	chr8:120888400-120889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:120888400-120889000	Active TSS	Stomach Mucosa	stomach
46	chr8:120888400-120889800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links