Variant report

Variant	rs11609068
Chromosome Location	chr12:49840480-49840481
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	chr12:49523750..49525581-chr12:49837787..49840679,2	K562	blood:

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11608534	0.84[EUR][1000 genomes]
rs11609027	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11609087	0.88[EUR][1000 genomes]
rs11609549	0.92[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs11609699	0.84[EUR][1000 genomes]
rs11610501	0.86[EUR][1000 genomes]
rs11610835	0.90[EUR][1000 genomes]
rs11611624	0.88[EUR][1000 genomes]
rs11611801	0.88[EUR][1000 genomes]
rs11612426	0.84[EUR][1000 genomes]
rs11613171	0.88[EUR][1000 genomes]
rs11613183	0.83[EUR][1000 genomes]
rs11613509	0.86[EUR][1000 genomes]
rs11613908	0.88[EUR][1000 genomes]
rs11614479	0.84[EUR][1000 genomes]
rs11614854	0.88[EUR][1000 genomes]
rs11615299	0.88[EUR][1000 genomes]
rs11615316	0.88[EUR][1000 genomes]
rs11615383	0.90[EUR][1000 genomes]
rs11829969	0.88[EUR][1000 genomes]
rs11830595	0.88[EUR][1000 genomes]
rs11830747	0.88[EUR][1000 genomes]
rs11831792	0.88[EUR][1000 genomes]
rs11834236	0.84[EUR][1000 genomes]
rs11837194	0.92[GIH][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs11838223	0.84[EUR][1000 genomes]
rs12300376	0.86[YRI][hapmap]
rs12319484	0.83[EUR][1000 genomes]
rs17123724	0.85[YRI][hapmap]
rs17123778	0.86[YRI][hapmap]
rs17123787	0.85[YRI][hapmap]
rs17123827	0.86[YRI][hapmap]
rs2091801	0.88[EUR][1000 genomes]
rs56746050	0.84[EUR][1000 genomes]
rs56784507	0.84[EUR][1000 genomes]
rs58082501	0.90[EUR][1000 genomes]
rs60827238	0.84[EUR][1000 genomes]
rs61638922	0.84[EUR][1000 genomes]
rs7296220	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7296303	0.84[EUR][1000 genomes]
rs7300276	0.88[EUR][1000 genomes]
rs7301723	0.92[GIH][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs7304456	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7309610	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7488206	0.84[EUR][1000 genomes]
rs7488270	0.83[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
2	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
4	chr12:49820400-49854400	Weak transcription	Dnd41	blood
5	chr12:49822800-49842600	Weak transcription	NHLF	lung
6	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:49823200-49856000	Weak transcription	NHEK	skin
10	chr12:49823200-49856400	Weak transcription	HSMM	muscle
11	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:49823400-49876000	Weak transcription	Osteobl	bone
15	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:49829400-49855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:49831200-49849000	Weak transcription	NH-A	brain
18	chr12:49831600-49852000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:49833000-49849200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:49833000-49849800	Weak transcription	K562	blood
21	chr12:49833400-49848600	Weak transcription	Psoas Muscle	Psoas
22	chr12:49833600-49849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:49833600-49854600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:49834000-49849400	Weak transcription	Left Ventricle	heart
25	chr12:49834200-49847400	Weak transcription	HepG2	liver
26	chr12:49837600-49856000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:49839200-49876000	Weak transcription	Fetal Thymus	thymus
28	chr12:49839400-49840600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:49839400-49840600	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr12:49839400-49840600	ZNF genes & repeats	Fetal Stomach	stomach
31	chr12:49839800-49840600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:49839800-49840600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr12:49840000-49840600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:49840000-49840600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:49840000-49840600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr12:49840000-49840600	Strong transcription	A549	lung
37	chr12:49840000-49840600	ZNF genes & repeats	Hela-S3	cervix
38	chr12:49840000-49840800	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr12:49840200-49840600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
41	chr12:49840400-49840800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:49840400-49841000	Weak transcription	HUVEC	blood vessel
43	chr12:49840400-49841200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:49840400-49845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:49840400-49848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:49840400-49849800	Weak transcription	Aorta	Aorta

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