Variant report

Variant	rs1870100
Chromosome Location	chr8:119089080-119089081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11562721	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431748	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431757	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17451050	1.00[CHB][hapmap]
rs17454120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6992023	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327853	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838643	1.00[ASN][1000 genomes]
rs7843725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	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
3	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
4	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
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
3	chr8:119078000-119099000	Weak transcription	Dnd41	blood
4	chr8:119078400-119091600	Weak transcription	Gastric	stomach
5	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119085200-119091600	Weak transcription	HSMM	muscle
7	chr8:119085600-119089600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
9	chr8:119085800-119089800	Enhancers	Fetal Heart	heart
10	chr8:119086800-119089600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:119086800-119089800	Enhancers	Fetal Lung	lung
12	chr8:119087000-119089600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:119087000-119089800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:119087000-119090000	Genic enhancers	Osteobl	bone
15	chr8:119087000-119090800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:119087200-119089200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:119087200-119089200	Enhancers	Fetal Stomach	stomach
18	chr8:119087200-119089600	Enhancers	Ovary	ovary
19	chr8:119087200-119089800	Enhancers	NHDF-Ad	bronchial
20	chr8:119087200-119091000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:119087200-119093200	Weak transcription	Fetal Intestine Small	intestine
22	chr8:119087400-119089800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:119087400-119090200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:119087400-119090600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:119087400-119094200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:119087600-119089400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:119087600-119089600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:119087600-119089600	Genic enhancers	NHLF	lung
29	chr8:119087600-119090000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:119087600-119091600	Weak transcription	Small Intestine	intestine
31	chr8:119087600-119093200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:119087600-119094800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:119087600-119095800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:119087600-119099200	Weak transcription	Pancreas	Pancrea
35	chr8:119087600-119101800	Weak transcription	Fetal Thymus	thymus
36	chr8:119087800-119089200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:119087800-119089400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:119087800-119089400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr8:119087800-119089400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:119087800-119089400	Weak transcription	HMEC	breast
41	chr8:119087800-119089800	Enhancers	NH-A	brain
42	chr8:119087800-119090400	Weak transcription	HUVEC	blood vessel
43	chr8:119087800-119090600	Weak transcription	NHEK	skin
44	chr8:119087800-119091400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:119087800-119091600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:119087800-119096000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:119087800-119098600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:119088000-119091400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:119088000-119091400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:119088000-119098400	Weak transcription	Colon Smooth Muscle	Colon

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