Variant report

Variant	rs2279121
Chromosome Location	chr8:119036141-119036142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1037693	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955849	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11562667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261684	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17453854	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2126630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2169604	0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445922	1.00[YRI][hapmap]
rs4876398	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119024200-119038000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:119024800-119036600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:119024800-119037000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:119025000-119038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:119029000-119038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:119030000-119040600	Enhancers	Fetal Intestine Small	intestine
7	chr8:119030200-119037400	Weak transcription	Pancreas	Pancrea
8	chr8:119030800-119037000	Weak transcription	Gastric	stomach
9	chr8:119030800-119037200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:119032000-119036200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:119032000-119037000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119032400-119036800	Weak transcription	HSMMtube	muscle
13	chr8:119032400-119043200	Weak transcription	GM12878-XiMat	blood
14	chr8:119033200-119036600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:119033200-119040200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119033800-119037400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:119033800-119037800	Weak transcription	Colonic Mucosa	Colon
18	chr8:119034200-119037000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:119034200-119037200	Enhancers	A549	lung
20	chr8:119034200-119038200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:119034400-119036200	Weak transcription	Hela-S3	cervix
22	chr8:119034400-119036800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:119035000-119037200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:119035000-119038400	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:119035000-119038400	Enhancers	Osteobl	bone
26	chr8:119035000-119039000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:119035000-119039200	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:119035000-119040000	Enhancers	NHDF-Ad	bronchial
29	chr8:119035000-119040200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:119035000-119044600	Enhancers	Liver	Liver
31	chr8:119035200-119037400	Weak transcription	Fetal Intestine Large	intestine
32	chr8:119035200-119037400	Enhancers	HUVEC	blood vessel
33	chr8:119035200-119038200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr8:119035200-119038600	Enhancers	Adipose Nuclei	Adipose
35	chr8:119035200-119038600	Enhancers	Fetal Kidney	kidney
36	chr8:119035200-119038600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:119035200-119038800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:119035200-119039200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:119035200-119040400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:119035400-119036200	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:119035400-119036400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:119035400-119037400	Enhancers	Fetal Heart	heart
43	chr8:119035400-119038600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:119035400-119038600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:119035400-119040600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:119035600-119036200	Enhancers	Fetal Stomach	stomach
47	chr8:119035600-119036400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr8:119035600-119036400	Enhancers	Right Atrium	heart
49	chr8:119035600-119036600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:119035600-119036600	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links