Variant report

Variant	rs72650209
Chromosome Location	chr1:102750965-102750966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11164478	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12064703	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12074983	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12074984	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12081795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095516	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1341883	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1341884	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1361624	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6577310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6577311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659544	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6671939	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6674632	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2422183	chr1:102450736-102796819	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007511	chr1:102563992-102768968	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv870464	chr1:102594884-102816541	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007547	chr1:102633433-102829808	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv869940	chr1:102641285-102861815	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv997714	chr1:102646550-102852838	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv527282	chr1:102647938-102995218	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv527939	chr1:102647938-102995218	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1000003	chr1:102652777-102843624	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1001712	chr1:102652777-102850380	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1013397	chr1:102652777-102852838	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv871874	chr1:102653180-102865643	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv2750795	chr1:102655684-102849788	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv998426	chr1:102655684-102850380	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1012765	chr1:102655684-102852838	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1006160	chr1:102656181-102841915	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1003711	chr1:102656181-102843624	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv998908	chr1:102656181-102850380	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv1014058	chr1:102656181-102852838	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv916124	chr1:102656635-102849833	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1002440	chr1:102657632-102852838	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv1007166	chr1:102657632-102858846	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv2763582	chr1:102657644-102852850	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv2750796	chr1:102657979-102849979	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
26	esv2756328	chr1:102658174-102849788	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv1013803	chr1:102659848-102788731	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv1013146	chr1:102659852-102829808	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv535035	chr1:102659852-102829808	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv1010954	chr1:102659852-102865075	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv535036	chr1:102659852-102865075	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	esv2830336	chr1:102661680-102799057	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv546902	chr1:102661680-102834095	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv546903	chr1:102661680-102843543	ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv521500	chr1:102667388-102795212	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	nsv462650	chr1:102667388-102799057	Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv546904	chr1:102667388-102799057	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv462661	chr1:102667388-102816841	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv546905	chr1:102667388-102816841	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv546906	chr1:102667388-102843543	Genic enhancers Enhancers Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	nsv997932	chr1:102669955-102796625	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
42	nsv462672	chr1:102670310-102827023	Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
43	nsv546907	chr1:102670310-102827023	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
44	nsv1008643	chr1:102671325-102792281	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
45	nsv546908	chr1:102673499-102858846	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
46	nsv1009117	chr1:102678594-102816541	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
47	nsv546909	chr1:102684733-102846147	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
48	nsv462683	chr1:102699037-102828330	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
49	nsv546910	chr1:102699037-102828330	Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
50	esv3446703	chr1:102700221-103125526	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102750800-102751400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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