Variant report

Variant	rs1938936
Chromosome Location	chr11:86389000-86389001
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86386984..86389152-chr11:86390570..86392584,2	K562	blood:
2	chr11:86386903..86389522-chr11:86451138..86453581,3	MCF-7	breast:
3	chr11:86387904..86390324-chr11:86451509..86453266,2	MCF-7	breast:
4	chr11:86386748..86389830-chr11:86391852..86394746,3	MCF-7	breast:
5	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
6	chr11:86387888..86391324-chr11:86509272..86511991,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS23-4	chr11:86388566-86389686	l_530_chr11:86344324-86389623_testes

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10792873	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2433421	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2508304	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2512981	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2512982	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2512984	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2512985	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2512987	0.95[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2512988	0.91[CHB][hapmap]
rs507123	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs507211	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs594361	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs601988	0.85[JPT][hapmap]
rs626049	0.88[JPT][hapmap]
rs627684	0.89[JPT][hapmap]
rs642245	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs682915	0.83[CHB][hapmap];0.80[JPT][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1938936	C11orf82	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86383800-86389200	Weak transcription	Right Atrium	heart
2	chr11:86383800-86389200	Weak transcription	HSMM	muscle
3	chr11:86383800-86391600	Weak transcription	Right Ventricle	heart
4	chr11:86383800-86393000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:86383800-86393200	Weak transcription	Aorta	Aorta
6	chr11:86384000-86389400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:86384000-86389400	Weak transcription	Osteobl	bone
8	chr11:86384000-86392000	Weak transcription	Fetal Lung	lung
9	chr11:86384200-86389200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:86384200-86389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86384200-86389600	Weak transcription	NHLF	lung
12	chr11:86384400-86389200	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:86384400-86389400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:86384400-86389400	Weak transcription	Brain Angular Gyrus	brain
15	chr11:86384400-86390200	Enhancers	Colon Smooth Muscle	Colon
16	chr11:86384400-86392600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:86384800-86389200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:86384800-86389400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:86384800-86389400	Weak transcription	Fetal Brain Male	brain
20	chr11:86384800-86389400	Weak transcription	Fetal Heart	heart
21	chr11:86384800-86393200	Weak transcription	Pancreas	Pancrea
22	chr11:86384800-86397800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:86384800-86400400	Weak transcription	Gastric	stomach
24	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:86385600-86391600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:86386400-86389400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:86386400-86391600	Weak transcription	Stomach Mucosa	stomach
28	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:86387000-86390800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:86387000-86390800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:86387000-86392800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:86387400-86389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:86387400-86390200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:86387600-86391400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:86387800-86389600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:86387800-86390400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:86388000-86389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:86388000-86389000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:86388000-86389200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:86388000-86389200	Weak transcription	Left Ventricle	heart
41	chr11:86388000-86389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:86388000-86389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:86388000-86389600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:86388000-86390200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:86388000-86390400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:86388000-86391400	Weak transcription	Fetal Intestine Small	intestine
47	chr11:86388000-86392000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:86388400-86389200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:86388400-86389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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