Variant report

Variant	rs1149805
Chromosome Location	chr12:26126238-26126239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1149808	1.00[AMR][1000 genomes]
rs1691894	1.00[AMR][1000 genomes]
rs2634178	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs706523	1.00[AMR][1000 genomes]
rs706524	0.82[AFR][1000 genomes]
rs706530	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs706531	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs706532	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs706535	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs706537	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]
rs829819	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26128800	Weak transcription	HSMM	muscle
2	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
5	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
6	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
8	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:26122400-26128200	Enhancers	Osteobl	bone
14	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
19	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:26123800-26134200	Weak transcription	Gastric	stomach
23	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:26124200-26126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:26124400-26126600	Weak transcription	Lung	lung
27	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
28	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
29	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:26124600-26126400	Enhancers	NHLF	lung
31	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
32	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
34	chr12:26125000-26126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:26125000-26126400	Weak transcription	Left Ventricle	heart
36	chr12:26125000-26126400	Weak transcription	Psoas Muscle	Psoas
37	chr12:26125000-26126400	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:26125000-26126800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:26125000-26128600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:26125000-26129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:26125000-26130800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
43	chr12:26125200-26128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:26125600-26126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:26125600-26126400	Enhancers	HMEC	breast
46	chr12:26125600-26126400	Enhancers	NHEK	skin
47	chr12:26125600-26127000	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:26125800-26126800	Enhancers	Brain Substantia Nigra	brain
49	chr12:26125800-26129000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:26125800-26129600	Enhancers	Right Atrium	heart

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