Variant report

Variant	rs495813
Chromosome Location	chr7:49894878-49894879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1021139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10229515	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10233698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10251249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11185592	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11185593	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11185597	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11185598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11970999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11978548	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532827	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540153	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12672757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12691361	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12718225	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13222252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13245999	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13310601	0.81[EUR][1000 genomes]
rs1351688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1351691	1.00[CHB][hapmap]
rs1351694	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1355037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1384635	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1384636	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1384637	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1396277	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1476240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1476241	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483071	0.83[ASN][1000 genomes]
rs1483072	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1483074	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1483076	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483077	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1483086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483087	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483088	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483090	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483091	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1483094	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1564740	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1567269	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1601032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1601035	1.00[JPT][hapmap]
rs1601037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1872137	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1905271	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1905272	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1911765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1911767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1983159	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1983162	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2046299	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2046300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2086696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2128658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2128664	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2170787	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2365784	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2365791	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2366023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2886462	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2886464	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3850669	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4451253	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916995	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916997	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916998	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4917005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4917094	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4917095	0.91[ASN][1000 genomes]
rs4917103	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs528279	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs539930	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544853	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55947532	0.84[AMR][1000 genomes]
rs598871	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs623107	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629285	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6583394	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6583395	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6583396	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6583397	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6583407	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs690842	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs691194	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs691413	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs691458	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs691636	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs692039	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs692201	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs692667	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6948934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6952121	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6953525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6953702	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6957719	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6963083	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6966640	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6977361	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6979166	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs726383	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs769922	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769927	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7779095	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785151	1.00[CHB][hapmap]
rs7788033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7788589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7788609	0.80[EUR][1000 genomes]
rs7792222	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7793883	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7797267	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802037	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805203	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7809987	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs959678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs985489	0.81[ASN][1000 genomes]
rs988393	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49888200-49895000	Weak transcription	Right Ventricle	heart
2	chr7:49892800-49895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:49892800-49895400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:49892800-49904000	Weak transcription	Ovary	ovary
5	chr7:49893000-49895000	Weak transcription	Left Ventricle	heart
6	chr7:49894400-49896000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:49894400-49896000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:49894600-49896000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:49894600-49896000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:49894600-49896000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:49894600-49896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:49894800-49895200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:49894800-49896200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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