Variant report

Variant	rs17140982
Chromosome Location	chr7:69327126-69327127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1014417	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245786	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10257549	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10259748	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10452738	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11508453	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11761141	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11763186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11974201	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11978431	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12333974	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698813	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698816	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698822	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698825	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698830	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13226538	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13237811	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17140933	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17140980	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210591	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210593	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210594	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs210596	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210599	0.80[AFR][1000 genomes]
rs210601	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210604	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs210606	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2159679	0.81[EUR][1000 genomes]
rs2533428	0.81[AFR][1000 genomes]
rs2533430	0.81[AFR][1000 genomes]
rs2533449	0.83[AFR][1000 genomes]
rs2851484	0.83[AFR][1000 genomes]
rs2851514	0.81[AFR][1000 genomes]
rs2851516	0.83[AFR][1000 genomes]
rs2865805	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28770244	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2903097	0.81[EUR][1000 genomes]
rs34221396	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34617709	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35696945	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717520	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4718906	0.83[AFR][1000 genomes]
rs513150	0.83[AFR][1000 genomes]
rs532820	0.84[AFR][1000 genomes]
rs55990156	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs576193	0.81[AFR][1000 genomes]
rs576293	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs585282	0.82[ASN][1000 genomes]
rs589983	0.80[ASN][1000 genomes]
rs590609	0.82[ASN][1000 genomes]
rs593063	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs595681	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60359704	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs610930	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6415223	0.81[ASN][1000 genomes]
rs6460532	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs649200	0.84[AFR][1000 genomes]
rs6943309	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951921	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6955261	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6958981	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6961164	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6963882	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6966036	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6978134	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979355	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980307	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs726372	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7779010	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7786073	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795152	0.86[ASN][1000 genomes]
rs7796973	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797340	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7801117	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7809145	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7809303	0.81[ASN][1000 genomes]
rs7809934	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs877687	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9332399	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69322000-69330000	Weak transcription	Ovary	ovary
3	chr7:69322200-69327800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:69322600-69327200	Weak transcription	Fetal Brain Male	brain
5	chr7:69322800-69329400	Weak transcription	Fetal Stomach	stomach
6	chr7:69323000-69327800	Weak transcription	Fetal Brain Female	brain
7	chr7:69323600-69331800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:69323800-69329000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:69323800-69330200	Weak transcription	Psoas Muscle	Psoas
10	chr7:69324000-69327200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:69324000-69327400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:69324000-69328800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:69324200-69327400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:69325000-69327600	Weak transcription	Fetal Lung	lung
15	chr7:69325400-69327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:69325400-69327800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:69325600-69328200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:69325800-69327800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:69326000-69335800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:69326400-69327400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:69326400-69327400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:69326400-69327400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:69326400-69327400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:69326400-69327600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:69326400-69329200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:69326600-69327800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:69326600-69328800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:69326600-69336200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:69326800-69327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:69326800-69329200	Enhancers	GM12878-XiMat	blood

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