Variant report

Variant	rs11895736
Chromosome Location	chr2:33573090-33573091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33571757..33573919-chr2:33583040..33585706,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12105119	1.00[ASN][1000 genomes]
rs12105747	1.00[ASN][1000 genomes]
rs12105856	1.00[ASN][1000 genomes]
rs17012767	1.00[YRI][hapmap]
rs17012811	1.00[YRI][hapmap]
rs17012864	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17644939	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1869450	1.00[CHD][hapmap]
rs1869451	1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[ASN][1000 genomes]
rs3769553	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55870451	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56014485	0.87[AFR][1000 genomes]
rs56412670	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799764	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557776	1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
3	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
5	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:33550600-33577600	Weak transcription	Fetal Stomach	stomach
8	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:33563000-33579600	Weak transcription	NHDF-Ad	bronchial
10	chr2:33563200-33577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:33563200-33578200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:33564000-33582200	Weak transcription	Esophagus	oesophagus
13	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
14	chr2:33565600-33580800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:33565800-33576600	Weak transcription	Ovary	ovary
16	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:33566800-33581000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:33567600-33578000	Weak transcription	Left Ventricle	heart
20	chr2:33568000-33574400	Weak transcription	NHLF	lung
21	chr2:33568400-33580600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:33568800-33575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:33570400-33580800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:33570600-33574200	Weak transcription	Aorta	Aorta
25	chr2:33570600-33587400	Weak transcription	Fetal Heart	heart
26	chr2:33570800-33588400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:33571000-33590600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:33571400-33579400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:33571400-33579800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:33572000-33578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:33572200-33573400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr2:33572200-33574000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:33572400-33573200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:33572400-33573800	Strong transcription	NH-A	brain
36	chr2:33572400-33574600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:33572400-33578800	Strong transcription	Osteobl	bone
38	chr2:33572400-33581000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:33572400-33582600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:33572600-33573200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:33572600-33573400	Strong transcription	HUVEC	blood vessel
42	chr2:33572800-33574200	Weak transcription	Gastric	stomach
43	chr2:33572800-33574200	Weak transcription	Dnd41	blood
44	chr2:33573000-33574800	Weak transcription	Liver	Liver

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