Variant report

Variant	rs1149615
Chromosome Location	chr11:76498133-76498134
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	BCL3	chr11:76495697-76498146	A549	lung:	n/a	chr11:76497573-76497581
2	MAX	chr11:76491870-76500240	A549	lung:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76499004-76499014 chr11:76494703-76494719 chr11:76500087-76500096
3	POLR2A	chr11:76498052-76498325	A549	lung:	n/a	n/a
4	POLR2A	chr11:76498009-76498320	A549	lung:	n/a	n/a
5	POLR2A	chr11:76498126-76498303	A549	lung:	n/a	n/a
6	TCF12	chr11:76491706-76499377	A549	lung:	n/a	chr11:76495264-76495274 chr11:76499211-76499221 chr11:76492154-76492161 chr11:76499346-76499356 chr11:76492802-76492812
7	POLR2A	chr11:76497001-76500285	A549	lung:	n/a	n/a
8	POLR2A	chr11:76494484-76500840	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76497529..76499535-chr11:76534642..76536244,2	MCF-7	breast:
2	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:
3	chr11:76482203..76483878-chr11:76496457..76499496,3	K562	blood:
4	chr11:76497872..76501557-chr11:76570027..76573455,3	K562	blood:
5	chr11:76497829..76500317-chr11:76518217..76520054,2	MCF-7	breast:
6	chr11:76496902..76499372-chr11:76570017..76571527,2	K562	blood:
7	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
8	chr11:76484600..76489060-chr11:76497459..76500806,4	K562	blood:
9	chr11:76497234..76499501-chr11:76534793..76537709,2	K562	blood:
10	chr11:76450787..76452506-chr11:76497901..76500387,2	K562	blood:

Variant related genes	Relation type
ENSG00000255100	TF binding region
TSKU	TF binding region
ENSG00000261578	Chromatin interaction
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1149596	0.81[EUR][1000 genomes]
rs1149597	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1149599	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1149605	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1149606	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1149608	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1149609	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1149610	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1149612	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1149614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149616	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs1149617	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1149618	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1149619	0.95[EUR][1000 genomes]
rs1224955	0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1664081	0.82[CHB][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs34909318	0.96[EUR][1000 genomes]
rs3740776	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3740777	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs881930	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1149615	GUCY2EP	cis	Adipose Subcutaneous	GTEx
rs1149615	ACER3	cis	cerebellum	SCAN
rs1149615	POLD3	cis	parietal	SCAN
rs1149615	RP11-21L23.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76495400-76501800	Transcr. at gene 5' and 3'	A549	lung
2	chr11:76495800-76499600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:76496000-76499000	Weak transcription	Lung	lung
4	chr11:76496000-76499200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:76496000-76499400	Weak transcription	Brain Anterior Caudate	brain
6	chr11:76496000-76499600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:76496000-76499800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:76496000-76500600	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:76496000-76501000	Enhancers	Right Ventricle	heart
10	chr11:76496000-76506800	Weak transcription	Aorta	Aorta
11	chr11:76496200-76498200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:76496200-76498200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:76496200-76498600	Enhancers	Brain Hippocampus Middle	brain
14	chr11:76496200-76499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:76496200-76499800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:76496200-76503600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
18	chr11:76496400-76498200	Enhancers	K562	blood
19	chr11:76496400-76500600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:76496400-76500600	Enhancers	Fetal Heart	heart
21	chr11:76496400-76501000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:76496400-76501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:76496400-76504000	Weak transcription	HSMMtube	muscle
24	chr11:76496600-76498200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:76496600-76498200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:76496600-76498200	Enhancers	NHDF-Ad	bronchial
27	chr11:76496600-76498200	Enhancers	Osteobl	bone
28	chr11:76496600-76498400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:76496600-76498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:76496600-76499200	Weak transcription	NH-A	brain
31	chr11:76496600-76500400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:76496600-76500800	Enhancers	Pancreas	Pancrea
33	chr11:76496600-76504400	Weak transcription	HUVEC	blood vessel
34	chr11:76496600-76509800	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:76496800-76498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:76496800-76498200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:76496800-76498200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:76496800-76498400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:76496800-76498400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:76496800-76498600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:76496800-76498600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:76496800-76498600	Weak transcription	Fetal Intestine Large	intestine
43	chr11:76496800-76498600	Weak transcription	Gastric	stomach
44	chr11:76496800-76499000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:76496800-76499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:76496800-76499400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:76496800-76499400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr11:76496800-76499400	Genic enhancers	NHEK	skin
49	chr11:76496800-76500200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:76496800-76500200	Genic enhancers	Fetal Stomach	stomach

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