Variant report

Variant	rs11678585
Chromosome Location	chr2:183614670-183614671
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1037404	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695731	0.81[ASW][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11901549	0.80[EUR][1000 genomes]
rs13509	0.88[CEU][hapmap]
rs167013	0.80[CEU][hapmap]
rs17356762	0.88[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs184078	0.81[EUR][1000 genomes]
rs190830	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs192618	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs208393	0.88[CEU][hapmap]
rs2118591	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs288240	0.88[CEU][hapmap]
rs288241	0.87[CEU][hapmap]
rs288253	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs288254	0.82[EUR][1000 genomes]
rs288256	0.82[EUR][1000 genomes]
rs288257	0.82[EUR][1000 genomes]
rs288258	0.88[CEU][hapmap]
rs288259	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs288260	0.80[CEU][hapmap]
rs288264	0.80[CEU][hapmap]
rs288265	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs288267	0.80[CEU][hapmap]
rs288268	0.80[CEU][hapmap]
rs288280	0.88[CEU][hapmap]
rs288283	0.88[CEU][hapmap]
rs288291	0.82[EUR][1000 genomes]
rs288292	0.81[EUR][1000 genomes]
rs288293	0.81[EUR][1000 genomes]
rs288295	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs288306	0.88[CEU][hapmap]
rs288307	0.88[CEU][hapmap]
rs288310	0.88[CEU][hapmap]
rs288311	0.88[CEU][hapmap]
rs288313	0.82[EUR][1000 genomes]
rs288331	0.83[EUR][1000 genomes]
rs288332	0.80[EUR][1000 genomes]
rs288334	0.81[EUR][1000 genomes]
rs288335	0.83[EUR][1000 genomes]
rs288336	0.81[EUR][1000 genomes]
rs3115425	0.83[EUR][1000 genomes]
rs34818934	0.87[EUR][1000 genomes]
rs369573	0.83[EUR][1000 genomes]
rs3738945	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs418159	0.82[EUR][1000 genomes]
rs432527	0.84[EUR][1000 genomes]
rs438248	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs442044	0.84[EUR][1000 genomes]
rs62188170	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6716810	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6729801	0.83[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6745697	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761415	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7576939	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs825660	0.88[CEU][hapmap]
rs825668	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs9678817	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11678585	DNAJC10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
2	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
3	chr2:183581800-183647600	Weak transcription	Gastric	stomach
4	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
5	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
6	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
7	chr2:183591400-183622600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:183601600-183620000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:183602600-183622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:183602600-183624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:183603200-183622400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:183606000-183622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:183606000-183624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:183607200-183622600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:183608000-183621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:183608000-183622800	Weak transcription	Thymus	Thymus
19	chr2:183608000-183624200	Weak transcription	Fetal Stomach	stomach
20	chr2:183608000-183628200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:183609000-183615000	Weak transcription	NHDF-Ad	bronchial
22	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
23	chr2:183609600-183622800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:183610000-183638800	Weak transcription	Lung	lung
25	chr2:183610200-183614800	Weak transcription	Fetal Brain Female	brain
26	chr2:183610200-183615000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:183610200-183615200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:183610200-183616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:183610200-183616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:183610200-183616400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:183610200-183616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:183610200-183616400	Weak transcription	Left Ventricle	heart
33	chr2:183610200-183620800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:183610200-183621000	Weak transcription	HSMMtube	muscle
35	chr2:183610200-183622400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:183610200-183622600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:183610200-183622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:183610200-183623800	Weak transcription	Psoas Muscle	Psoas
39	chr2:183610200-183624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:183610200-183624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:183610200-183624400	Weak transcription	Aorta	Aorta
42	chr2:183610200-183626000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:183610200-183626600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:183610200-183628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:183610200-183631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:183610200-183633200	Weak transcription	Spleen	Spleen
47	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:183610400-183614800	Weak transcription	HMEC	breast
49	chr2:183610400-183614800	Weak transcription	HSMM	muscle
50	chr2:183610400-183616400	Weak transcription	HUVEC	blood vessel

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