Variant report

Variant	rs17140422
Chromosome Location	chr7:117420784-117420785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10487375	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953849	0.87[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10953850	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs11767812	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11974874	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs12111635	0.87[CEU][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12112085	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs17140425	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537841	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34021261	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34061504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34150886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34276731	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34292695	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34298238	0.89[EUR][1000 genomes]
rs34456221	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34849507	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34872021	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002306	0.89[EUR][1000 genomes]
rs35205358	0.89[EUR][1000 genomes]
rs35583564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35638149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35850544	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36026875	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7777671	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7791416	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7793937	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs916931	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs929667	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:117396600-117431200	Weak transcription	Aorta	Aorta
5	chr7:117396800-117421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:117397000-117431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:117397000-117431200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:117397000-117431600	Weak transcription	Ovary	ovary
9	chr7:117397200-117421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:117397200-117431200	Weak transcription	Pancreas	Pancrea
11	chr7:117398600-117431200	Weak transcription	Fetal Stomach	stomach
12	chr7:117400800-117431200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:117401400-117434000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:117409800-117433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:117412200-117431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:117412200-117431200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:117412400-117431200	Weak transcription	Esophagus	oesophagus
18	chr7:117415600-117421000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:117415600-117421000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:117415600-117421000	Weak transcription	Fetal Heart	heart
21	chr7:117415800-117421000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:117416600-117421000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:117416800-117420800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:117417000-117425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:117417400-117421000	Weak transcription	NH-A	brain
26	chr7:117417800-117421200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:117417800-117425800	Weak transcription	Brain Angular Gyrus	brain
28	chr7:117417800-117431200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:117417800-117431200	Weak transcription	Brain Germinal Matrix	brain
30	chr7:117417800-117431600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:117418000-117421200	Weak transcription	NHLF	lung
32	chr7:117418000-117423000	Weak transcription	Fetal Brain Male	brain
33	chr7:117418000-117427400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:117418000-117430400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:117418000-117431200	Weak transcription	Adipose Nuclei	Adipose
36	chr7:117418000-117431200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:117418000-117431400	Weak transcription	Fetal Lung	lung
38	chr7:117418200-117423600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:117418400-117422800	Weak transcription	Fetal Brain Female	brain
40	chr7:117418400-117423400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:117418400-117430400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:117419800-117422000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:117420600-117420800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:117420600-117421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:117420600-117421400	Flanking Active TSS	GM12878-XiMat	blood
46	chr7:117420600-117421600	Enhancers	Brain Hippocampus Middle	brain
47	chr7:117420600-117422000	Enhancers	Brain Anterior Caudate	brain

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