Variant report

Variant	rs12693527
Chromosome Location	chr2:189913273-189913274
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	chr2:189906528..189908603-chr2:189912198..189915100,2	K562	blood:
2	chr2:189912462..189915135-chr8:111597995..111599883,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10178611	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178886	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10181597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10194682	0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195184	0.83[ASN][1000 genomes]
rs11686253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11690723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12622083	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12693526	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12693528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12989558	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008197	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13391332	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13401377	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28486035	0.83[AFR][1000 genomes]
rs4667259	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6414121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434310	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434311	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434315	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434321	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434323	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6738371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420511	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7421040	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7421525	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7423808	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7423973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7424137	0.88[ASN][1000 genomes]
rs7424790	0.94[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7426169	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7557945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7562299	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7568732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7591905	0.80[AFR][1000 genomes]
rs7602447	0.80[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606293	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189917400	Weak transcription	Ovary	ovary
2	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
3	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
4	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
8	chr2:189895200-189940800	Strong transcription	HSMM	muscle
9	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
11	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
13	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:189897200-189934400	Weak transcription	Gastric	stomach
15	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:189897600-189934000	Weak transcription	Lung	lung
18	chr2:189898400-189938200	Weak transcription	HMEC	breast
19	chr2:189899000-189916000	Weak transcription	Aorta	Aorta
20	chr2:189899000-189919000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:189899000-189925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:189899000-189939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:189901000-189914200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189901000-189919000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189901200-189947400	Weak transcription	Fetal Brain Male	brain
27	chr2:189902400-189921600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:189902600-189914600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:189902600-189937000	Strong transcription	NH-A	brain
30	chr2:189902800-189914400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:189902800-189914800	Strong transcription	Osteobl	bone
32	chr2:189904000-189938200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:189904400-189915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:189904400-189916000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:189904400-189921200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:189904400-189926800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:189904400-189934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:189904600-189932400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:189906000-189918000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:189906400-189914000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:189906400-189914400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:189906400-189925400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:189906600-189914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:189907600-189914000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:189907800-189915800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:189907800-189929200	Weak transcription	Liver	Liver
48	chr2:189908000-189916000	Weak transcription	Placenta	Placenta
49	chr2:189908000-189927800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:189909000-189921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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