Variant report

Variant	rs12738035
Chromosome Location	chr1:217182708-217182709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11572415	0.80[CHB][hapmap]
rs11572427	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11572435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11572453	0.81[AFR][1000 genomes]
rs11572454	0.81[AFR][1000 genomes]
rs11577589	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.90[AFR][1000 genomes]
rs11585218	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11585774	0.93[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12723476	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12724974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741457	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12741622	0.81[AFR][1000 genomes]
rs12743080	0.81[AFR][1000 genomes]
rs12747869	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12748650	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12750129	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12756498	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12759546	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12759584	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17044977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17635718	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17636663	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17686743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17686866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34056739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34493634	0.90[AFR][1000 genomes]
rs34710011	0.81[AFR][1000 genomes]
rs34904258	0.90[AFR][1000 genomes]
rs35185630	0.90[AFR][1000 genomes]
rs35701761	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4846800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684076	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs6690530	0.81[AFR][1000 genomes]
rs71643432	0.81[AFR][1000 genomes]
rs71643434	0.81[AFR][1000 genomes]
rs71643435	0.81[AFR][1000 genomes]
rs71643436	0.81[AFR][1000 genomes]
rs71643437	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71643439	0.90[AFR][1000 genomes]
rs867409	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1008670	chr1:217155114-217206765	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1012243	chr1:217157000-217206765	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1006155	chr1:217157000-217215465	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004880	chr1:217157748-217206765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1011212	chr1:217162443-217206765	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217157400-217194400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:217173600-217187600	Weak transcription	Fetal Heart	heart
3	chr1:217181800-217183800	Enhancers	Brain Substantia Nigra	brain
4	chr1:217182000-217182800	Enhancers	Brain Hippocampus Middle	brain
5	chr1:217182200-217182800	Enhancers	Brain Angular Gyrus	brain
6	chr1:217182200-217183800	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:217182600-217182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:217182600-217182800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr1:217182600-217182800	Enhancers	HMEC	breast
10	chr1:217182600-217183400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:217182600-217183600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:217182600-217184200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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