Variant report

Variant	rs706523
Chromosome Location	chr12:26117169-26117170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26115121..26117506-chr12:26161572..26164104,2	MCF-7	breast:
2	chr12:26111412..26115023-chr12:26116224..26121847,6	MCF-7	breast:
3	chr12:26112648..26115611-chr12:26116052..26117767,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123094	Chromatin interaction
ENSG00000246695	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1149805	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[AMR][1000 genomes]
rs706535	1.00[AMR][1000 genomes]
rs706537	1.00[AFR][1000 genomes];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]
rs829819	1.00[AMR][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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26112800-26120600	Weak transcription	Pancreas	Pancrea
2	chr12:26113000-26123600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:26113400-26118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:26113400-26121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26113400-26123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:26113400-26123600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:26113400-26128800	Weak transcription	HSMM	muscle
9	chr12:26113600-26118200	Weak transcription	HSMMtube	muscle
10	chr12:26113800-26120600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:26113800-26122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:26113800-26122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:26113800-26124000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:26114000-26117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
17	chr12:26114200-26117200	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:26114200-26117600	Enhancers	Colon Smooth Muscle	Colon
19	chr12:26114200-26125600	Weak transcription	HMEC	breast
20	chr12:26114400-26123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:26114600-26117400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:26114600-26122200	Weak transcription	NH-A	brain
23	chr12:26114600-26122400	Weak transcription	Osteobl	bone
24	chr12:26114800-26117200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:26114800-26123600	Weak transcription	Fetal Lung	lung
26	chr12:26115000-26119800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:26115000-26122600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
29	chr12:26115200-26119000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:26115400-26117200	Genic enhancers	NHDF-Ad	bronchial
31	chr12:26115800-26117200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:26116000-26117200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:26116000-26117200	Enhancers	Brain Angular Gyrus	brain
34	chr12:26116000-26117400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:26116200-26117400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:26116200-26117600	Strong transcription	Hela-S3	cervix
37	chr12:26116400-26117200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:26116400-26117200	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:26116400-26117200	Enhancers	Brain Hippocampus Middle	brain
40	chr12:26116400-26117200	Enhancers	Fetal Heart	heart
41	chr12:26116400-26117200	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:26116400-26117400	Enhancers	Ovary	ovary
43	chr12:26116400-26117400	Strong transcription	HUVEC	blood vessel
44	chr12:26116600-26117200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:26116600-26117200	Strong transcription	Fetal Stomach	stomach
46	chr12:26116600-26124600	Weak transcription	NHLF	lung
47	chr12:26116800-26117600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr12:26116800-26118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:26116800-26120400	Weak transcription	Aorta	Aorta
50	chr12:26116800-26120800	Weak transcription	Brain Inferior Temporal Lobe	brain

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