Variant report

Variant	rs17362614
Chromosome Location	chr12:26188008-26188009
allele	C/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: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219479	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10734752	0.86[ASN][1000 genomes]
rs11048395	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11048396	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12300961	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12304275	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12308128	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12314388	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16929960	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17354107	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17354204	0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17354478	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17361182	0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17361755	0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17362314	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17362453	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17362593	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362901	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17458637	0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17459432	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17459771	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17459910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17460800	1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1996091	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963645	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963945	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4963948	0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4963949	0.91[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963950	1.00[ASN][1000 genomes]
rs55965624	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56051193	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56169892	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56228589	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56399330	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58178281	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73074880	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73074882	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73074895	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73077109	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73077123	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73077138	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73077155	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73077158	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73079015	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73079022	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079036	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73079055	0.91[AMR][1000 genomes]
rs73079059	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486150	1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3321743	chr12:26187985-26189433	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:61 , 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	chr12:26180000-26188200	Enhancers	NHDF-Ad	bronchial
7	chr12:26180200-26188200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:26180800-26188200	Enhancers	Brain Substantia Nigra	brain
9	chr12:26180800-26195000	Weak transcription	HSMM	muscle
10	chr12:26181000-26195200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:26182200-26190600	Weak transcription	Gastric	stomach
12	chr12:26182200-26195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:26182600-26188200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:26182600-26189800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:26183600-26190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:26185200-26188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:26185600-26188200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:26185600-26188200	Enhancers	Hela-S3	cervix
19	chr12:26186000-26188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:26186000-26189000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:26186000-26200400	Weak transcription	Right Ventricle	heart
22	chr12:26186200-26189400	Weak transcription	Adipose Nuclei	Adipose
23	chr12:26186200-26190000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:26186200-26190000	Weak transcription	Ovary	ovary
25	chr12:26186200-26193400	Weak transcription	Fetal Lung	lung
26	chr12:26186200-26195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:26186400-26191000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:26186400-26191000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:26187000-26190600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:26187000-26190600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:26187000-26190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:26187000-26193200	Weak transcription	Esophagus	oesophagus
33	chr12:26187200-26189600	Weak transcription	Left Ventricle	heart
34	chr12:26187200-26190000	Weak transcription	Psoas Muscle	Psoas
35	chr12:26187200-26190600	Weak transcription	Pancreas	Pancrea
36	chr12:26187200-26190600	Weak transcription	Right Atrium	heart
37	chr12:26187200-26190800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:26187200-26190800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:26187200-26193200	Weak transcription	Lung	lung
40	chr12:26187200-26195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:26187200-26196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:26187200-26200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:26187400-26188200	Enhancers	HSMMtube	muscle
44	chr12:26187400-26188200	Enhancers	NH-A	brain
45	chr12:26187400-26190600	Weak transcription	Aorta	Aorta
46	chr12:26187600-26188200	Enhancers	Brain Cingulate Gyrus	brain
47	chr12:26187600-26188200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:26187600-26188200	Enhancers	Rectal Smooth Muscle	rectum
49	chr12:26187600-26188200	Enhancers	A549	lung
50	chr12:26187600-26188200	Enhancers	NHLF	lung

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