Variant report

Variant	rs8035382
Chromosome Location	chr15:44244523-44244524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44240850..44243740-chr15:44243781..44246529,3	K562	blood:
2	chr15:44237269..44240458-chr15:44244301..44246946,3	K562	blood:
3	chr15:44240850..44243740-chr15:44243781..44246073,2	K562	blood:
4	chr15:44244363..44246293-chr15:44248151..44250160,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459588	1.00[JPT][hapmap]
rs11635948	1.00[JPT][hapmap]
rs11853395	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12437804	0.81[TSI][hapmap]
rs12900880	1.00[JPT][hapmap]
rs1426658	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs1561458	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16948098	1.00[CEU][hapmap]
rs16949992	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16952932	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16958670	1.00[JPT][hapmap]
rs16958691	1.00[JPT][hapmap]
rs1820482	0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs2412853	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs2412854	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs2615297	0.92[GIH][hapmap]
rs2623015	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733221	0.92[GIH][hapmap]
rs28654093	0.85[EUR][1000 genomes]
rs28729677	0.97[EUR][1000 genomes]
rs2918952	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2929275	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2929277	0.97[EUR][1000 genomes]
rs2929279	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2929282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930523	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2930524	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2930525	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34497759	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270152	1.00[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs4321171	0.85[EUR][1000 genomes]
rs481837	1.00[CEU][hapmap];0.93[TSI][hapmap]
rs483800	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs4924728	1.00[JPT][hapmap]
rs4924729	1.00[GIH][hapmap]
rs492571	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs545119	0.82[EUR][1000 genomes]
rs59561000	0.88[EUR][1000 genomes]
rs59770554	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61271143	0.81[ASN][1000 genomes]
rs6493094	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs6493096	1.00[JPT][hapmap]
rs7162529	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7179696	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs74009159	0.85[EUR][1000 genomes]
rs74009160	0.85[EUR][1000 genomes]
rs8029187	1.00[JPT][hapmap]
rs8029425	1.00[JPT][hapmap]
rs8033233	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs8035402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035689	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8038096	0.81[TSI][hapmap]
rs8041328	0.87[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44225400-44246200	Weak transcription	Right Atrium	heart
2	chr15:44225600-44246200	Weak transcription	NH-A	brain
3	chr15:44227200-44251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:44229000-44245000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:44236400-44246200	Weak transcription	NHLF	lung
6	chr15:44238200-44245800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:44241600-44246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:44242000-44250400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:44242800-44244800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:44243000-44244800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:44243000-44244800	Weak transcription	GM12878-XiMat	blood
12	chr15:44243000-44246200	Weak transcription	HSMMtube	muscle
13	chr15:44243600-44248200	Enhancers	Brain Substantia Nigra	brain
14	chr15:44243800-44247600	Enhancers	Brain Anterior Caudate	brain
15	chr15:44243800-44247600	Enhancers	Brain Cingulate Gyrus	brain
16	chr15:44243800-44247600	Enhancers	Brain Hippocampus Middle	brain
17	chr15:44243800-44247800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:44244000-44244600	Enhancers	Fetal Brain Male	brain
19	chr15:44244000-44246800	Enhancers	Brain Angular Gyrus	brain
20	chr15:44244200-44244600	Enhancers	Fetal Heart	heart
21	chr15:44244200-44244800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:44244200-44245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:44244400-44245000	Enhancers	Brain Germinal Matrix	brain

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