Variant report

Variant	rs17459771
Chromosome Location	chr12:26181429-26181430
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	chr12:26110820..26113756-chr12:26181378..26183569,2	MCF-7	breast:
2	chr12:26179146..26181652-chr12:26265259..26267157,2	K562	blood:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10219479	0.88[EUR][1000 genomes]
rs10734752	0.82[ASN][1000 genomes]
rs11048395	0.94[EUR][1000 genomes]
rs11048396	0.94[EUR][1000 genomes]
rs12300961	0.88[EUR][1000 genomes]
rs12304275	0.88[EUR][1000 genomes]
rs12308128	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12314388	0.88[EUR][1000 genomes]
rs16929960	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17354107	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17354204	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17354478	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17361182	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17361755	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17362314	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362453	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362593	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17362614	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17362901	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17458637	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17459432	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17459910	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17460800	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1996091	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4963645	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4963945	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4963948	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4963949	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4963950	0.96[ASN][1000 genomes]
rs55965624	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56051193	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56169892	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56228589	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56399330	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58178281	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73074880	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73074882	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73074895	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73077109	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73077123	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73077138	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73077155	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73077158	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079015	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079022	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079027	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079032	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079036	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079055	0.89[AMR][1000 genomes]
rs73079059	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486150	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:26169600-26182000	Weak transcription	NHLF	lung
3	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
5	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
6	chr12:26171000-26182000	Weak transcription	HUVEC	blood vessel
7	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
8	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:26172000-26182000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:26172200-26181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:26174600-26182000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:26174800-26181800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:26174800-26182000	Weak transcription	Right Atrium	heart
16	chr12:26174800-26185600	Weak transcription	Ovary	ovary
17	chr12:26175000-26181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:26175200-26182000	Weak transcription	Brain Anterior Caudate	brain
21	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
22	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:26175400-26181800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:26176000-26184200	Weak transcription	Left Ventricle	heart
27	chr12:26179800-26186000	Enhancers	Colon Smooth Muscle	Colon
28	chr12:26180000-26182000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:26180000-26182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
31	chr12:26180200-26188200	Enhancers	Brain Hippocampus Middle	brain
32	chr12:26180400-26182000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:26180600-26182000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:26180600-26182000	Weak transcription	Stomach Mucosa	stomach
35	chr12:26180600-26182400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:26180600-26183800	Enhancers	Brain Cingulate Gyrus	brain
37	chr12:26180600-26184400	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:26180600-26187400	Weak transcription	NH-A	brain
39	chr12:26180800-26181800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:26180800-26182200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:26180800-26182200	Enhancers	Brain Angular Gyrus	brain
42	chr12:26180800-26188200	Enhancers	Brain Substantia Nigra	brain
43	chr12:26180800-26195000	Weak transcription	HSMM	muscle
44	chr12:26181000-26181800	Active TSS	Fetal Intestine Small	intestine
45	chr12:26181000-26182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:26181000-26182000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:26181000-26182000	Weak transcription	Fetal Lung	lung
48	chr12:26181000-26182000	Weak transcription	Small Intestine	intestine
49	chr12:26181000-26183400	Weak transcription	Fetal Kidney	kidney
50	chr12:26181000-26184200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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