Variant report

Variant	rs17719642
Chromosome Location	chr10:50943637-50943638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10857531	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs10857535	0.85[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs11592068	0.87[EUR][1000 genomes]
rs12265707	0.94[EUR][1000 genomes]
rs1258247	0.80[EUR][1000 genomes]
rs1258249	0.81[EUR][1000 genomes]
rs1258250	0.81[EUR][1000 genomes]
rs1258255	0.83[EUR][1000 genomes]
rs1258256	0.86[JPT][hapmap]
rs13736	0.85[EUR][1000 genomes]
rs1625258	0.80[EUR][1000 genomes]
rs17775990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1985896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992238	0.94[EUR][1000 genomes]
rs2083256	0.94[EUR][1000 genomes]
rs2377780	0.94[EUR][1000 genomes]
rs4838554	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs4838555	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs61846862	0.94[EUR][1000 genomes]
rs61846864	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61846865	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61849382	0.87[EUR][1000 genomes]
rs6537549	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs6537550	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs6537551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537552	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7069682	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7088344	0.86[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs7100934	0.94[EUR][1000 genomes]
rs7916489	0.89[CEU][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048905	chr10:50928727-51019190	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50934800-50944000	Weak transcription	Brain Angular Gyrus	brain
2	chr10:50935200-50949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50939000-50944200	Weak transcription	Pancreas	Pancrea
4	chr10:50940400-50949600	Weak transcription	Fetal Heart	heart
5	chr10:50940400-50953400	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:50940600-50966000	Strong transcription	Liver	Liver
7	chr10:50941000-50946400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:50941000-50951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:50941200-50943800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:50941200-50945000	Weak transcription	Spleen	Spleen
11	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
12	chr10:50942000-50946400	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr10:50942000-50949600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr10:50942800-50944400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:50942800-50946200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:50942800-50946400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:50943000-50944200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:50943000-50946600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:50943000-50956400	Strong transcription	Brain Anterior Caudate	brain
20	chr10:50943200-50944000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:50943200-50945400	Strong transcription	Ovary	ovary
22	chr10:50943200-50946800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:50943400-50944000	Strong transcription	Brain Substantia Nigra	brain
25	chr10:50943400-50944800	Strong transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:50943400-50946600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:50943400-50949400	Weak transcription	Fetal Intestine Large	intestine
28	chr10:50943400-50956200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:50943600-50944400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:50943600-50944400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:50943600-50946200	Strong transcription	Fetal Brain Female	brain
32	chr10:50943600-50947200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr10:50943600-50949600	Strong transcription	Fetal Intestine Small	intestine

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