Variant report

Variant	rs11164814
Chromosome Location	chr1:93261373-93261374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93260518..93262518-chr1:93265417..93267735,2	K562	blood:
2	chr1:93260576..93262268-chr1:93262339..93263967,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11164803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11164816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164820	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11577426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11578004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11578098	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11581705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583778	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585590	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11586570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11588545	0.83[AMR][1000 genomes]
rs11589122	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs11591094	0.81[EUR][1000 genomes]
rs11800409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11800771	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11800848	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11803097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11805007	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs11805229	0.83[EUR][1000 genomes]
rs11805698	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11807962	0.88[AMR][1000 genomes]
rs11808092	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs11809055	0.82[EUR][1000 genomes]
rs11810111	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11810217	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12728322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12731107	0.94[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12733238	0.85[AMR][1000 genomes]
rs12738833	0.94[CEU][hapmap]
rs12738964	1.00[ASN][1000 genomes]
rs12743005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12746893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12747275	1.00[JPT][hapmap]
rs12749480	0.83[EUR][1000 genomes]
rs12749786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12756698	0.83[EUR][1000 genomes]
rs1333743	0.88[AMR][1000 genomes]
rs1415296	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs17614449	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1854797	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2051841	0.83[EUR][1000 genomes]
rs2893226	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34202284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs34221961	0.85[AMR][1000 genomes]
rs34231012	0.88[AMR][1000 genomes]
rs34244251	1.00[CHB][hapmap]
rs34250288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34288890	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34305407	0.83[EUR][1000 genomes]
rs34734076	0.88[AMR][1000 genomes]
rs34761380	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34812295	0.86[AMR][1000 genomes]
rs34843292	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35038369	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35183060	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35241270	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35311203	0.83[EUR][1000 genomes]
rs35435370	0.83[EUR][1000 genomes]
rs35526187	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35612297	0.83[EUR][1000 genomes]
rs35699160	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35705463	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35901796	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114576	0.81[EUR][1000 genomes]
rs3790450	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs4642892	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs56044027	0.86[AMR][1000 genomes]
rs59864761	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604026	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs66649041	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67026262	0.81[EUR][1000 genomes]
rs67646822	0.81[EUR][1000 genomes]
rs67876779	0.81[EUR][1000 genomes]
rs71652503	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71652507	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72724555	0.80[EUR][1000 genomes]
rs72724574	0.83[EUR][1000 genomes]
rs72724586	0.83[EUR][1000 genomes]
rs72724587	0.83[EUR][1000 genomes]
rs7514280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7521417	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
3	chr1:93258200-93263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:93258200-93263600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:93258800-93269800	Weak transcription	Fetal Heart	heart
6	chr1:93260400-93261400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:93260400-93261600	Enhancers	Osteobl	bone
8	chr1:93260600-93261400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93260800-93261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:93260800-93261600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:93261000-93261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:93261000-93262600	Weak transcription	NH-A	brain
13	chr1:93261200-93263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:93261200-93270200	Weak transcription	Muscle Satellite Cultured Cells	--

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