Variant report

Variant	rs9488304
Chromosome Location	chr6:114327561-114327562
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12190983	0.81[CEU][hapmap]
rs12211751	0.81[CEU][hapmap]
rs2475617	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475618	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2475619	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475620	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475622	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2475623	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2475624	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2475625	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2475626	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2475628	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2499610	0.87[EUR][1000 genomes]
rs2499611	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2499612	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2499613	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2499616	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499620	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3002601	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4296916	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296917	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4551200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4945985	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568821	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6568824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764690	0.82[CEU][hapmap]
rs9320476	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320477	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320479	0.81[CEU][hapmap]
rs9374432	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9398370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9481419	1.00[JPT][hapmap]
rs9488300	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488301	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488302	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488303	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488315	1.00[JPT][hapmap]
rs9488316	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114311800-114332400	Weak transcription	Fetal Brain Female	brain
2	chr6:114314600-114331200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:114317200-114328200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:114317400-114328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:114318800-114331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:114319200-114328600	Weak transcription	NH-A	brain
7	chr6:114321800-114329000	Weak transcription	Osteobl	bone
8	chr6:114322000-114328600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:114322000-114330400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:114322800-114329200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:114323000-114328800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:114323600-114328200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:114323600-114328200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:114323600-114328400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:114323600-114328400	Weak transcription	Brain Angular Gyrus	brain
16	chr6:114323600-114328800	Weak transcription	NHDF-Ad	bronchial
17	chr6:114323800-114328200	Weak transcription	HSMMtube	muscle
18	chr6:114324000-114328200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:114324000-114328800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:114324200-114328200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:114324200-114328400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:114324200-114328400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:114324200-114328400	Weak transcription	Brain Anterior Caudate	brain
24	chr6:114324200-114328400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:114324400-114328200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:114325800-114328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:114326400-114328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:114326400-114328200	Weak transcription	HSMM	muscle
29	chr6:114327400-114327600	Enhancers	Brain Cingulate Gyrus	brain

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