Variant report

Variant	rs706537
Chromosome Location	chr12:26131915-26131916
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	chr12:26108836..26112964-chr12:26130309..26134148,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10082878	1.00[MEX][hapmap]
rs1149805	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1149808	1.00[AMR][1000 genomes]
rs1691894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2634178	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2643940	0.83[MKK][hapmap]
rs2669570	0.83[MKK][hapmap]
rs706523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs706530	1.00[YRI][hapmap]
rs706531	1.00[YRI][hapmap]
rs706532	1.00[YRI][hapmap]
rs706535	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7133619	1.00[AMR][1000 genomes]
rs7133628	1.00[AMR][1000 genomes]
rs7133954	1.00[AMR][1000 genomes]
rs7965778	1.00[AMR][1000 genomes]
rs7972225	1.00[MEX][hapmap]
rs829819	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv433521	chr12:26127230-26132785	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv517117	chr12:26127230-26133925	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:26123800-26134200	Weak transcription	Gastric	stomach
4	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
7	chr12:26126400-26132200	Weak transcription	HMEC	breast
8	chr12:26126800-26134000	Weak transcription	Aorta	Aorta
9	chr12:26127000-26132000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:26127200-26132200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:26128000-26132400	Enhancers	Rectal Smooth Muscle	rectum
12	chr12:26128200-26133000	Enhancers	Left Ventricle	heart
13	chr12:26128400-26132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:26128400-26132000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:26128400-26132200	Weak transcription	HUVEC	blood vessel
16	chr12:26129400-26134000	Weak transcription	Spleen	Spleen
17	chr12:26129400-26134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
19	chr12:26129600-26133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:26129600-26134000	Weak transcription	Esophagus	oesophagus
21	chr12:26129800-26132200	Weak transcription	NHLF	lung
22	chr12:26129800-26133000	Enhancers	Ovary	ovary
23	chr12:26129800-26134400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
25	chr12:26130000-26132400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:26130000-26133200	Enhancers	Brain Anterior Caudate	brain
27	chr12:26130200-26132400	Enhancers	Fetal Heart	heart
28	chr12:26130200-26132800	Enhancers	Brain Hippocampus Middle	brain
29	chr12:26130200-26132800	Enhancers	Brain Substantia Nigra	brain
30	chr12:26130400-26132000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:26130400-26132400	Enhancers	Brain Angular Gyrus	brain
32	chr12:26130400-26132800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:26130400-26133000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:26130800-26132200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:26130800-26132200	Weak transcription	NH-A	brain
36	chr12:26130800-26132200	Weak transcription	Osteobl	bone
37	chr12:26130800-26132800	Enhancers	Psoas Muscle	Psoas
38	chr12:26130800-26133600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:26130800-26134200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:26131000-26132200	Weak transcription	Right Atrium	heart
41	chr12:26131000-26132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:26131000-26132600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:26131000-26145400	Weak transcription	Lung	lung
46	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:26131000-26146200	Weak transcription	HSMM	muscle
48	chr12:26131200-26137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:26131600-26132200	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:26131600-26132400	Enhancers	Cortex derived primary cultured neurospheres	brain

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