Variant report

Variant	rs11586229
Chromosome Location	chr1:46786874-46786875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46781719..46783798-chr1:46783959..46786980,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10789488	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890386	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890387	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10890388	0.86[AMR][1000 genomes]
rs11584233	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12039667	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12044708	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12125573	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2093044	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4660918	0.85[AMR][1000 genomes]
rs4660919	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4660920	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660921	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6429596	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6689182	0.82[EUR][1000 genomes]
rs7527133	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9793263	0.82[AFR][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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv470711	chr1:46660295-46810530	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv947254	chr1:46769363-46808918	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46770800-46787000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46773400-46805400	Weak transcription	Right Atrium	heart
3	chr1:46777400-46799600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:46779000-46789000	Weak transcription	HepG2	liver
5	chr1:46780200-46787200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:46780800-46789000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:46781000-46787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:46781800-46805400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:46782400-46789000	Weak transcription	Esophagus	oesophagus
10	chr1:46783400-46787400	Weak transcription	Fetal Thymus	thymus
11	chr1:46783400-46791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:46783400-46799400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:46783600-46787000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:46783600-46787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:46783600-46787000	Weak transcription	Primary T cells from cord blood	blood
16	chr1:46783600-46787000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:46783600-46787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:46783600-46787400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:46783600-46787600	Weak transcription	Fetal Brain Female	brain
20	chr1:46783600-46788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:46783600-46789000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:46783600-46790800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:46783600-46790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:46783600-46791600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:46783600-46797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:46783800-46787200	Weak transcription	Spleen	Spleen
27	chr1:46783800-46788800	Weak transcription	Liver	Liver
28	chr1:46783800-46789000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:46783800-46789000	Weak transcription	Left Ventricle	heart
30	chr1:46784000-46799400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:46784000-46805000	Weak transcription	Thymus	Thymus
32	chr1:46784600-46787000	Weak transcription	Right Ventricle	heart
33	chr1:46785200-46787200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:46785200-46787400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:46785400-46788600	Weak transcription	Pancreas	Pancrea
36	chr1:46785600-46787400	Weak transcription	Fetal Stomach	stomach
37	chr1:46786000-46796800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:46786200-46787200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:46786600-46787200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:46786800-46787000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:46786800-46787000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:46786800-46787200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:46786800-46787400	Enhancers	Fetal Kidney	kidney
44	chr1:46786800-46787600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:46786800-46787600	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links