Variant report

Variant	rs34294573
Chromosome Location	chr12:26189756-26189757
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	chr12:26186658..26189002-chr12:26189615..26191269,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10842643	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842644	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10842653	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048360	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11048372	0.85[AMR][1000 genomes]
rs11048378	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048379	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048380	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048381	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11048382	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048383	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11048384	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048389	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11048390	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1120064	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11561207	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227689	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12578169	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12579489	0.84[AMR][1000 genomes]
rs12581361	0.82[AMR][1000 genomes]
rs12812200	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12812752	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12813641	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12818478	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12831248	0.85[AMR][1000 genomes]
rs1390326	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1495660	0.84[AMR][1000 genomes]
rs16929784	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929817	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929830	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16929846	0.83[AMR][1000 genomes]
rs16929940	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16929945	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16929950	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16929958	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2055180	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132317	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2279680	0.85[AMR][1000 genomes]
rs2343201	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2643941	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34595529	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35924984	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3741546	0.84[AMR][1000 genomes]
rs3741547	0.82[AMR][1000 genomes]
rs3803009	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58299475	0.84[AMR][1000 genomes]
rs59757232	0.84[AMR][1000 genomes]
rs60335536	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61622173	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487525	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706524	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706531	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706532	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs706533	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7132590	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134721	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7298162	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953171	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963603	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7963856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829837	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs829987	0.87[AMR][1000 genomes];0.87[EUR][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	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
2	esv3424003	chr12:26187510-26190058	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3440731	chr12:26187635-26189883	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:26180800-26195000	Weak transcription	HSMM	muscle
7	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:26182200-26190600	Weak transcription	Gastric	stomach
9	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:26182600-26189800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:26183600-26190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:26186000-26200400	Weak transcription	Right Ventricle	heart
13	chr12:26186200-26190000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:26186200-26190000	Weak transcription	Ovary	ovary
15	chr12:26186200-26193400	Weak transcription	Fetal Lung	lung
16	chr12:26186200-26195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:26186400-26191000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:26186400-26191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:26187000-26190600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:26187000-26190600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:26187000-26190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:26187000-26193200	Weak transcription	Esophagus	oesophagus
23	chr12:26187200-26190000	Weak transcription	Psoas Muscle	Psoas
24	chr12:26187200-26190600	Weak transcription	Pancreas	Pancrea
25	chr12:26187200-26190600	Weak transcription	Right Atrium	heart
26	chr12:26187200-26190800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:26187200-26190800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:26187200-26193200	Weak transcription	Lung	lung
29	chr12:26187200-26195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:26187200-26196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:26187200-26200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:26187400-26190600	Weak transcription	Aorta	Aorta
33	chr12:26187600-26190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:26187800-26190000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:26187800-26190200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:26187800-26194800	Weak transcription	HUVEC	blood vessel
37	chr12:26188000-26190000	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:26188000-26193200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:26188000-26194600	Weak transcription	Osteobl	bone
40	chr12:26188000-26195200	Weak transcription	Fetal Kidney	kidney
41	chr12:26188200-26189800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:26188200-26189800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:26188200-26189800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:26188200-26190000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:26188200-26191800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:26188200-26192000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:26188200-26194600	Weak transcription	NHDF-Ad	bronchial
48	chr12:26188200-26194800	Weak transcription	NH-A	brain
49	chr12:26188800-26194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:26189000-26193800	Enhancers	Fetal Intestine Small	intestine

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