Variant report

Variant	rs10950418
Chromosome Location	chr7:12848623-12848624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
2	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:
3	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10233379	0.88[EUR][1000 genomes]
rs10235332	0.88[EUR][1000 genomes]
rs10237365	0.88[EUR][1000 genomes]
rs10950417	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950419	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11495996	1.00[ASN][1000 genomes]
rs12155420	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216561	1.00[ASN][1000 genomes]
rs12530804	1.00[ASN][1000 genomes]
rs12531011	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531228	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531814	0.95[EUR][1000 genomes]
rs12532172	1.00[ASN][1000 genomes]
rs12533247	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533314	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533912	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533952	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534712	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535230	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535869	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536932	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538097	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538194	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538763	0.97[EUR][1000 genomes]
rs12538792	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539313	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539387	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539416	1.00[ASN][1000 genomes]
rs12540042	1.00[ASN][1000 genomes]
rs12699417	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699419	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699421	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12699422	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12699426	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699432	1.00[ASN][1000 genomes]
rs12699433	1.00[ASN][1000 genomes]
rs13222073	0.83[EUR][1000 genomes]
rs13222475	0.82[EUR][1000 genomes]
rs13224587	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225356	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225358	0.82[EUR][1000 genomes]
rs13227946	1.00[ASN][1000 genomes]
rs13228110	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228635	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232299	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233019	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233170	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13233911	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235201	1.00[ASN][1000 genomes]
rs13236001	1.00[ASN][1000 genomes]
rs13236020	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238922	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244444	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504348	0.95[EUR][1000 genomes]
rs34057597	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34107937	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34269223	0.88[EUR][1000 genomes]
rs34338066	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34488685	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34529424	1.00[ASN][1000 genomes]
rs34591294	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755449	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34809518	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34904008	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34928291	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34971219	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35003906	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35181098	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35193720	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290407	0.95[EUR][1000 genomes]
rs35464195	0.82[EUR][1000 genomes]
rs35616205	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769393	1.00[ASN][1000 genomes]
rs35859074	1.00[ASN][1000 genomes]
rs35867430	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35917995	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942853	1.00[ASN][1000 genomes]
rs35966640	1.00[ASN][1000 genomes]
rs35988890	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36003929	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36091229	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55864529	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55943442	1.00[ASN][1000 genomes]
rs62445836	0.82[EUR][1000 genomes]
rs62450583	1.00[ASN][1000 genomes]
rs6954306	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954419	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71536902	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538805	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71538808	1.00[ASN][1000 genomes]
rs9647958	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648162	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv521756	chr7:12840090-12852124	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv1027806	chr7:12842708-12875714	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv1016775	chr7:12845004-12865643	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	nsv981801	chr7:12848501-12854945	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12842600-12848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:12842600-12849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:12845600-12848800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:12845600-12849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:12845600-12849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:12845800-12848800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:12845800-12849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12845800-12849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:12845800-12849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:12845800-12854400	Weak transcription	K562	blood
11	chr7:12846000-12848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:12846000-12849000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:12846000-12849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:12846000-12849000	Weak transcription	NHEK	skin
15	chr7:12846400-12848800	Weak transcription	HMEC	breast
16	chr7:12846800-12854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:12848600-12849600	Enhancers	Cortex derived primary cultured neurospheres	brain

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