Variant report

Variant	rs7301953
Chromosome Location	chr12:124405871-124405872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10846577	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10846578	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs10846579	0.93[CEU][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057393	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057394	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11057396	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11057397	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057399	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11057400	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057401	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11057407	0.95[EUR][1000 genomes]
rs11057408	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11057409	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11057412	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs11057413	0.86[EUR][1000 genomes]
rs11831913	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11833002	0.87[EUR][1000 genomes]
rs11835839	0.87[EUR][1000 genomes]
rs11837287	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs1187415	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs12296259	0.87[EUR][1000 genomes]
rs12298484	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12301673	0.87[EUR][1000 genomes]
rs12303671	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12303933	0.86[EUR][1000 genomes]
rs12310367	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs12311114	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12311848	0.85[EUR][1000 genomes]
rs12316080	0.88[EUR][1000 genomes]
rs12317176	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322694	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12809125	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12809473	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs12823740	0.92[CEU][hapmap]
rs12824567	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12827409	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12829951	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12833624	0.84[EUR][1000 genomes]
rs1882491	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2130382	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2178663	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3186071	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34114498	0.85[EUR][1000 genomes]
rs34180676	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34854841	0.95[EUR][1000 genomes]
rs34878139	0.87[EUR][1000 genomes]
rs35099862	0.86[EUR][1000 genomes]
rs35825716	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3789967	0.85[EUR][1000 genomes]
rs3802999	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4405410	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs4575361	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4765127	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4765148	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4765219	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs4765305	0.87[EUR][1000 genomes]
rs4765335	0.95[EUR][1000 genomes]
rs4765528	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4765541	0.85[EUR][1000 genomes]
rs4765562	0.85[EUR][1000 genomes]
rs4930721	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930722	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930723	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4930724	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs4930725	0.88[EUR][1000 genomes]
rs4930726	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs55990776	0.82[EUR][1000 genomes]
rs56041971	0.86[EUR][1000 genomes]
rs6488912	0.87[EUR][1000 genomes]
rs6488913	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6488914	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7131882	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7132655	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7133378	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7134121	0.86[EUR][1000 genomes]
rs7135314	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs71458830	0.85[EUR][1000 genomes]
rs7305864	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7307053	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7307277	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7311233	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7311969	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7312404	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7955815	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7958691	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7961449	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7966192	0.87[EUR][1000 genomes]
rs7973683	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7975482	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7978610	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs952632	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs9863	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9971695	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:124400400-124417800	Weak transcription	Spleen	Spleen
5	chr12:124404800-124407400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:124405600-124406000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:124405600-124406200	Enhancers	Primary T cells from cord blood	blood
8	chr12:124405600-124406200	Bivalent Enhancer	K562	blood
9	chr12:124405600-124406800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:124405600-124406800	Enhancers	Thymus	Thymus
11	chr12:124405600-124407000	Enhancers	Fetal Thymus	thymus
12	chr12:124405800-124406000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:124405800-124406200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:124405800-124406200	Enhancers	Dnd41	blood
15	chr12:124405800-124406600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:124405800-124406800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:124405800-124407200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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