Variant report

Variant	rs11983903
Chromosome Location	chr7:128324779-128324780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1013514	0.91[ASN][1000 genomes]
rs101721	0.85[CHB][hapmap]
rs10488628	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs10954206	0.86[ASN][1000 genomes]
rs11769769	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs11982488	0.91[ASN][1000 genomes]
rs2060718	0.94[TSI][hapmap]
rs62481928	0.81[ASN][1000 genomes]
rs62483370	0.91[ASN][1000 genomes]
rs6467202	0.87[JPT][hapmap]
rs6467203	0.87[JPT][hapmap]
rs6971091	0.88[TSI][hapmap]
rs6979304	0.87[JPT][hapmap]
rs6979575	0.87[JPT][hapmap]
rs745229	0.81[ASW][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap]
rs7795141	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs11983903	TSGA14	cis	cerebellum	SCAN
rs11983903	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11983903	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11983903	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs11983903	RP11-274B21.1	cis	lung	GTEx
rs11983903	RP11-274B21.1	cis	Thyroid	GTEx
rs11983903	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs11983903	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs11983903	RP11-274B21.2	cis	Thyroid	GTEx
rs11983903	CICP14	cis	Nerve Tibial	GTEx
rs11983903	CICP14	cis	Thyroid	GTEx
rs11983903	RP11-274B21.4	cis	lung	GTEx
rs11983903	RP11-274B21.2	cis	lung	GTEx
rs11983903	RP11-274B21.4	cis	Thyroid	GTEx
rs11983903	TMEM209	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
5	chr7:128302400-128337200	Weak transcription	Gastric	stomach
6	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
7	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:128311200-128327000	Weak transcription	HSMM	muscle
9	chr7:128311600-128327800	Weak transcription	Brain Substantia Nigra	brain
10	chr7:128312400-128325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:128312600-128325400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:128313200-128325200	Weak transcription	Ovary	ovary
13	chr7:128313400-128329400	Weak transcription	Esophagus	oesophagus
14	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:128313600-128327200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:128313600-128327600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
18	chr7:128318200-128327600	Weak transcription	NHEK	skin
19	chr7:128318200-128328000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:128318400-128325800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:128319200-128325000	Weak transcription	Small Intestine	intestine
22	chr7:128319400-128328000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:128319800-128328000	Weak transcription	Fetal Intestine Small	intestine
24	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128320200-128337200	Weak transcription	NHLF	lung
26	chr7:128320400-128325400	Weak transcription	Right Ventricle	heart
27	chr7:128320400-128331000	Weak transcription	Brain Angular Gyrus	brain
28	chr7:128320400-128331000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:128320800-128329400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:128321000-128332000	Weak transcription	Fetal Brain Male	brain
31	chr7:128321400-128325600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:128321800-128325600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:128321800-128328000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:128322000-128325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:128322000-128328000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:128322200-128328800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:128322400-128324800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:128322400-128326000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:128322600-128325000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:128322600-128326400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:128322600-128328800	Weak transcription	Brain Germinal Matrix	brain
43	chr7:128322800-128325600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr7:128323000-128325600	Strong transcription	Fetal Stomach	stomach
45	chr7:128323000-128326600	Strong transcription	Adipose Nuclei	Adipose
46	chr7:128323200-128325600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr7:128323400-128325600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:128323400-128326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:128323400-128326400	Weak transcription	NH-A	brain
50	chr7:128323400-128327000	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links