Variant report

Variant	rs12076472
Chromosome Location	chr1:192312753-192312754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192312588..192314663-chr1:192330429..192332047,2	K562	blood:
2	chr1:192307961..192309733-chr1:192310054..192313025,2	K562	blood:
3	chr1:192309320..192313053-chr1:192320479..192324101,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10494671	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs10921133	0.92[CHB][hapmap]
rs10921134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1175120	0.82[EUR][1000 genomes]
rs1175142	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs11802527	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12074962	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12076553	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087502	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12087641	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12561839	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12564406	0.91[CEU][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12566011	0.91[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1339130	0.86[JPT][hapmap]
rs1339132	0.91[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs1343944	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs1416500	0.91[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs16834183	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs16834191	1.00[CHB][hapmap]
rs16834199	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs17414071	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1892145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892146	0.92[CHB][hapmap];0.82[YRI][hapmap]
rs1892147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1934087	0.91[CEU][hapmap];0.85[MEX][hapmap]
rs6659966	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs6684918	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7512102	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7514892	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518733	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7518835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7520486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7524601	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7528947	0.92[CHB][hapmap];0.80[YRI][hapmap]
rs7534108	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7545041	0.95[CEU][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7545796	0.90[CEU][hapmap];0.86[JPT][hapmap]
rs7555127	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548649	chr1:192215064-192378979	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv872829	chr1:192230089-192370110	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv872830	chr1:192236376-192353005	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv548650	chr1:192246590-192324175	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv548651	chr1:192249116-192324175	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv548652	chr1:192249116-192353005	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv548653	chr1:192249116-192370110	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548654	chr1:192249116-192373779	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv548655	chr1:192259645-192372674	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv548656	chr1:192283229-192372674	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv548657	chr1:192296038-192373779	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192311200-192312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:192312000-192312800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:192312000-192313000	Enhancers	HSMM	muscle
4	chr1:192312200-192312800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:192312200-192312800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:192312200-192312800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:192312200-192312800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:192312200-192313000	Enhancers	HSMMtube	muscle
9	chr1:192312400-192312800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:192312600-192312800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:192312600-192313000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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