Variant report

Variant	rs2055180
Chromosome Location	chr12:26190850-26190851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26183705..26186106-chr12:26190195..26191790,2	MCF-7	breast:
2	chr12:26186658..26189002-chr12:26189615..26191269,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10505990	0.81[JPT][hapmap]
rs10842643	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842644	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842653	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048360	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048372	0.86[AMR][1000 genomes]
rs11048376	0.82[JPT][hapmap]
rs11048378	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048379	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048380	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048381	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11048382	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048383	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11048384	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048389	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11048390	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1120064	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1149804	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs11561207	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227689	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12578169	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12579489	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs12581098	0.82[JPT][hapmap]
rs12581361	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs12812200	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12812752	0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12813641	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12818478	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12831248	0.86[AMR][1000 genomes]
rs1390326	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1495660	0.83[AMR][1000 genomes]
rs16929784	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929817	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929830	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929846	0.85[AMR][1000 genomes]
rs16929940	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16929945	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16929950	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929958	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929973	0.82[JPT][hapmap]
rs2132317	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2279680	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes]
rs2343201	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2643941	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34294573	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595529	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35924984	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3741546	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs3741547	0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs3803009	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58299475	0.83[AMR][1000 genomes]
rs59757232	0.83[AMR][1000 genomes]
rs60335536	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61622173	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706524	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706531	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706532	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706533	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706538	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs7132590	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134721	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7298162	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7309394	0.82[JPT][hapmap]
rs7313961	0.81[JPT][hapmap]
rs7953171	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963856	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829837	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829987	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs954476	0.82[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	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:26180800-26195000	Weak transcription	HSMM	muscle
3	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:26186000-26200400	Weak transcription	Right Ventricle	heart
6	chr12:26186200-26193400	Weak transcription	Fetal Lung	lung
7	chr12:26186200-26195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:26186400-26191000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:26186400-26191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:26187000-26193200	Weak transcription	Esophagus	oesophagus
11	chr12:26187200-26193200	Weak transcription	Lung	lung
12	chr12:26187200-26195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:26187200-26196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:26187200-26200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:26187800-26194800	Weak transcription	HUVEC	blood vessel
16	chr12:26188000-26193200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:26188000-26194600	Weak transcription	Osteobl	bone
18	chr12:26188000-26195200	Weak transcription	Fetal Kidney	kidney
19	chr12:26188200-26191800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:26188200-26192000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:26188200-26194600	Weak transcription	NHDF-Ad	bronchial
22	chr12:26188200-26194800	Weak transcription	NH-A	brain
23	chr12:26188800-26194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:26189000-26193800	Enhancers	Fetal Intestine Small	intestine
25	chr12:26189200-26194800	Weak transcription	Hela-S3	cervix
26	chr12:26189600-26191200	Enhancers	Left Ventricle	heart
27	chr12:26189800-26191200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:26189800-26192400	Enhancers	Fetal Intestine Large	intestine
29	chr12:26190000-26191000	Enhancers	Ovary	ovary
30	chr12:26190000-26191200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:26190000-26191400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:26190000-26191400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:26190000-26191400	Enhancers	Psoas Muscle	Psoas
34	chr12:26190000-26192400	Enhancers	Colon Smooth Muscle	Colon
35	chr12:26190600-26191000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:26190600-26191000	Enhancers	Aorta	Aorta
37	chr12:26190600-26191000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:26190600-26191000	Enhancers	Gastric	stomach
39	chr12:26190600-26191000	Enhancers	Pancreas	Pancrea
40	chr12:26190600-26191000	Enhancers	Right Atrium	heart
41	chr12:26190600-26191200	Enhancers	Brain Angular Gyrus	brain
42	chr12:26190600-26191200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr12:26190600-26191200	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr12:26190600-26191200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:26190600-26191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:26190600-26191600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr12:26190600-26192000	Enhancers	Brain Cingulate Gyrus	brain
48	chr12:26190600-26192400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:26190600-26192400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr12:26190600-26192800	Enhancers	HUES48 Cell Line	embryonic stem cell

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