Variant report

Variant	rs11605183
Chromosome Location	chr11:36366865-36366866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:36366623-36366899	K562	blood:	n/a	chr11:36366774-36366783 chr11:36366775-36366784 chr11:36366768-36366789 chr11:36366774-36366783 chr11:36366772-36366785 chr11:36366773-36366782

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11033546	1.00[CHB][hapmap]
rs11033551	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033561	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033562	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033571	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11033574	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs11603116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603868	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11821536	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226509	1.00[CHB][hapmap]
rs1346119	0.85[CHB][hapmap]
rs330258	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7129893	1.00[ASN][1000 genomes]
rs720758	1.00[CHB][hapmap]
rs72948137	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72948144	0.96[ASN][1000 genomes]
rs72950009	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950012	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950015	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950021	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950054	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72950059	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36362800-36371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:36364400-36381800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36365200-36367200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:36365200-36374000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:36365200-36374200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:36365800-36367000	Enhancers	Fetal Intestine Small	intestine
7	chr11:36366000-36367000	Enhancers	Fetal Intestine Large	intestine
8	chr11:36366400-36367000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:36366400-36367000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:36366400-36367400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:36366400-36367400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr11:36366600-36367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:36366600-36367000	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:36366600-36367000	Enhancers	Small Intestine	intestine
15	chr11:36366600-36367400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:36366600-36367400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:36366600-36367400	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:36366600-36367400	Enhancers	Pancreas	Pancrea
19	chr11:36366600-36367400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:36366600-36367400	Enhancers	Stomach Mucosa	stomach
21	chr11:36366800-36367000	Bivalent Enhancer	HUVEC	blood vessel
22	chr11:36366800-36367400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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