Variant report

Variant	rs12749981
Chromosome Location	chr1:103320617-103320618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1012282	1.00[JPT][hapmap]
rs1031820	0.83[ASN][1000 genomes]
rs10493991	1.00[JPT][hapmap]
rs10874665	1.00[JPT][hapmap]
rs10874668	1.00[JPT][hapmap]
rs11164648	1.00[JPT][hapmap]
rs11164649	1.00[JPT][hapmap]
rs11164653	1.00[JPT][hapmap]
rs11164658	1.00[JPT][hapmap]
rs11809524	1.00[JPT][hapmap]
rs11811018	1.00[JPT][hapmap]
rs12025848	1.00[JPT][hapmap]
rs12047268	1.00[JPT][hapmap]
rs12118365	1.00[JPT][hapmap]
rs12119459	1.00[JPT][hapmap]
rs12123031	1.00[JPT][hapmap]
rs12124588	1.00[JPT][hapmap]
rs12127590	1.00[JPT][hapmap]
rs12136748	1.00[JPT][hapmap]
rs12139120	1.00[JPT][hapmap]
rs1241162	1.00[JPT][hapmap]
rs1241164	1.00[JPT][hapmap]
rs1241166	1.00[JPT][hapmap]
rs1241172	0.90[ASN][1000 genomes]
rs1241173	1.00[ASN][1000 genomes]
rs1241181	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1241182	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1241183	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1241190	1.00[ASN][1000 genomes]
rs1241197	0.95[ASN][1000 genomes]
rs12723167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12723922	1.00[JPT][hapmap]
rs12724152	1.00[JPT][hapmap]
rs12726958	1.00[JPT][hapmap]
rs12728397	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs12729449	1.00[JPT][hapmap]
rs12729602	1.00[JPT][hapmap]
rs12731575	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12731843	1.00[JPT][hapmap]
rs12733933	1.00[JPT][hapmap]
rs12738133	1.00[JPT][hapmap]
rs12743365	1.00[JPT][hapmap]
rs12744290	1.00[JPT][hapmap]
rs12744488	1.00[JPT][hapmap]
rs12748384	1.00[JPT][hapmap]
rs12748410	0.85[ASN][1000 genomes]
rs12750377	1.00[JPT][hapmap]
rs12752702	0.85[ASN][1000 genomes]
rs12756627	1.00[JPT][hapmap]
rs1337174	1.00[JPT][hapmap]
rs1337175	1.00[JPT][hapmap]
rs1463034	1.00[JPT][hapmap]
rs1463035	1.00[JPT][hapmap]
rs1463037	1.00[JPT][hapmap]
rs1463038	1.00[JPT][hapmap]
rs1463039	1.00[JPT][hapmap]
rs1538041	1.00[JPT][hapmap]
rs1564143	1.00[JPT][hapmap]
rs1621055	1.00[JPT][hapmap]
rs1622838	1.00[JPT][hapmap]
rs1676491	0.83[ASN][1000 genomes]
rs1676493	1.00[JPT][hapmap]
rs1676497	1.00[JPT][hapmap]
rs1676498	1.00[JPT][hapmap]
rs1676499	1.00[JPT][hapmap]
rs1676500	1.00[JPT][hapmap]
rs1676501	1.00[JPT][hapmap]
rs1676502	1.00[JPT][hapmap]
rs17447925	1.00[JPT][hapmap]
rs17506286	1.00[JPT][hapmap]
rs17507967	1.00[JPT][hapmap]
rs1763344	1.00[JPT][hapmap]
rs1763345	1.00[JPT][hapmap]
rs1763346	1.00[JPT][hapmap]
rs1763350	0.90[ASN][1000 genomes]
rs1870958	1.00[JPT][hapmap]
rs1903787	1.00[JPT][hapmap]
rs1932336	1.00[ASN][1000 genomes]
rs1932342	0.87[ASN][1000 genomes]
rs2050601	1.00[JPT][hapmap]
rs2061704	1.00[JPT][hapmap]
rs2065922	1.00[JPT][hapmap]
rs2252146	1.00[JPT][hapmap]
rs2254082	1.00[JPT][hapmap]
rs2598461	0.87[ASN][1000 genomes]
rs2615977	1.00[JPT][hapmap]
rs2615987	1.00[JPT][hapmap]
rs2615999	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2622848	1.00[JPT][hapmap]
rs2622870	1.00[JPT][hapmap]
rs2622874	1.00[JPT][hapmap]
rs2622876	1.00[JPT][hapmap]
rs2622877	1.00[JPT][hapmap]
rs2622880	1.00[JPT][hapmap]
rs2708397	0.87[ASN][1000 genomes]
rs2783570	1.00[JPT][hapmap]
rs2786120	1.00[JPT][hapmap]
rs2786121	1.00[JPT][hapmap]
rs2786122	1.00[JPT][hapmap]
rs2786125	1.00[JPT][hapmap]
rs2929163	1.00[JPT][hapmap]
rs3102053	1.00[JPT][hapmap]
rs3850459	1.00[JPT][hapmap]
rs4353117	1.00[CHB][hapmap]
rs474472	0.87[ASN][1000 genomes]
rs4908280	1.00[JPT][hapmap]
rs511308	0.87[ASN][1000 genomes]
rs514077	0.87[ASN][1000 genomes]
rs579692	0.85[ASN][1000 genomes]
rs583527	0.87[ASN][1000 genomes]
rs606756	0.87[ASN][1000 genomes]
rs618072	0.87[ASN][1000 genomes]
rs621734	0.87[ASN][1000 genomes]
rs629282	0.87[ASN][1000 genomes]
rs631137	0.87[ASN][1000 genomes]
rs636801	0.85[ASN][1000 genomes]
rs6663034	1.00[JPT][hapmap]
rs6670486	1.00[JPT][hapmap]
rs6672647	1.00[JPT][hapmap]
rs670939	0.87[ASN][1000 genomes]
rs72681287	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517682	1.00[JPT][hapmap]
rs7532572	1.00[JPT][hapmap]
rs7544130	1.00[JPT][hapmap]
rs945748	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3413112	chr1:103318389-103320937	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103317800-103321800	Weak transcription	NHDF-Ad	bronchial
2	chr1:103318200-103320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:103318400-103324000	Weak transcription	Osteobl	bone
4	chr1:103318400-103324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:103320600-103320800	Enhancers	Fetal Intestine Large	intestine
6	chr1:103320600-103324000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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