Variant report

Variant	rs9503116
Chromosome Location	chr6:2187468-2187469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11963303	0.84[ASW][hapmap]
rs11968679	0.84[ASW][hapmap]
rs13437278	0.84[ASW][hapmap]
rs7761650	0.95[AFR][1000 genomes]
rs7770058	0.86[AFR][1000 genomes]
rs9501811	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9503100	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9503105	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9503113	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs9503115	1.00[AFR][1000 genomes]
rs9503119	1.00[AFR][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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
9	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
11	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2177200-2192800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:2178800-2187600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:2180400-2197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:2180600-2187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:2180600-2191600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:2182600-2188600	Weak transcription	Fetal Kidney	kidney
7	chr6:2183200-2195000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:2184600-2188200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:2184800-2188800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:2184800-2196600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:2185000-2188200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:2185400-2187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:2185400-2187800	Enhancers	HMEC	breast
14	chr6:2185600-2190800	Weak transcription	Left Ventricle	heart
15	chr6:2185600-2197400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:2185800-2194400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:2186000-2189000	Weak transcription	Pancreas	Pancrea
18	chr6:2186400-2188400	Enhancers	GM12878-XiMat	blood
19	chr6:2187400-2188200	Strong transcription	HepG2	liver
20	chr6:2187400-2188600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:2187400-2188600	Enhancers	HUES48 Cell Line	embryonic stem cell

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