Variant report

Variant	rs2116081
Chromosome Location	chr8:125697673-125697674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125662479..125664337-chr8:125697312..125699450,2	MCF-7	breast:
2	chr8:125683953..125685840-chr8:125696381..125699279,2	K562	blood:
3	chr8:125692471..125696543-chr8:125697551..125702907,8	MCF-7	breast:
4	chr8:125695412..125697895-chr8:125698374..125700260,3	K562	blood:
5	chr8:125697510..125699727-chr8:125700656..125702402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2382991	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2382992	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7844690	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	esv1795075	chr8:125692343-125713791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cognitive function	24684796	GWAS catalog

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125681200-125701000	Weak transcription	HMEC	breast
4	chr8:125686200-125699600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:125686400-125698400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:125686400-125698400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:125686400-125699400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:125686800-125699600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:125687600-125699200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:125688200-125699600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125692600-125699200	Enhancers	Brain Germinal Matrix	brain
12	chr8:125692800-125699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:125693200-125699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:125694200-125701400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:125694400-125703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125694600-125697800	Enhancers	K562	blood
17	chr8:125694600-125701600	Enhancers	Fetal Stomach	stomach
18	chr8:125695000-125698000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:125695000-125698000	Weak transcription	Pancreas	Pancrea
20	chr8:125695000-125698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:125695000-125698200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:125695000-125698200	Weak transcription	Fetal Thymus	thymus
23	chr8:125695000-125698200	Weak transcription	Lung	lung
24	chr8:125695000-125698400	Weak transcription	Spleen	Spleen
25	chr8:125695000-125699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:125695000-125699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:125695000-125699400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:125695000-125702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:125695000-125704800	Weak transcription	Gastric	stomach
30	chr8:125695200-125698200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:125695200-125698200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:125695200-125698600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:125695200-125700400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:125695600-125697800	Enhancers	Brain Angular Gyrus	brain
35	chr8:125695800-125699600	Enhancers	Brain Substantia Nigra	brain
36	chr8:125696000-125698000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:125696200-125697800	Weak transcription	Right Atrium	heart
38	chr8:125696200-125698200	Weak transcription	Placenta	Placenta
39	chr8:125696200-125698400	Weak transcription	Primary B cells from cord blood	blood
40	chr8:125696200-125700200	Weak transcription	Small Intestine	intestine
41	chr8:125696200-125700400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:125696200-125705000	Weak transcription	Esophagus	oesophagus
43	chr8:125696400-125698200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:125696400-125698800	Weak transcription	Fetal Brain Female	brain
45	chr8:125696400-125699200	Weak transcription	Right Ventricle	heart
46	chr8:125696600-125698400	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:125696600-125698600	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:125696600-125699200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:125696600-125699800	Weak transcription	HSMMtube	muscle
50	chr8:125696600-125700600	Weak transcription	NHEK	skin

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