Variant report

Variant	rs9503118
Chromosome Location	chr6:2192825-2192826
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2191098..2193029-chr6:2196230..2198209,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1006019	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs1033533	0.87[AFR][1000 genomes]
rs13206375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17134714	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2038223	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2038224	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55847540	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55937718	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56913552	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58343222	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58405376	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs59370688	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59520004	0.87[AFR][1000 genomes]
rs60593022	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60813424	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61070654	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61096641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6596871	0.87[AFR][1000 genomes]
rs6900870	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6904830	0.87[AFR][1000 genomes]
rs6909588	0.87[AFR][1000 genomes]
rs6920255	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6921705	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73418780	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73420706	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73420724	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7757356	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9328083	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9501806	0.87[AFR][1000 genomes]
rs9501807	0.81[AFR][1000 genomes]
rs9501808	0.85[AFR][1000 genomes]
rs9501809	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9503101	0.87[AFR][1000 genomes]
rs9503102	0.87[AFR][1000 genomes]
rs9503103	0.87[AFR][1000 genomes]
rs9503104	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9503108	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9503120	1.00[AFR][1000 genomes];1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2180400-2197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:2183200-2195000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:2184800-2196600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2185600-2197400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:2185800-2194400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:2187800-2197000	Weak transcription	HMEC	breast
7	chr6:2189200-2197600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:2189600-2196600	Weak transcription	Stomach Mucosa	stomach
9	chr6:2189600-2202800	Weak transcription	Pancreas	Pancrea
10	chr6:2191000-2197600	Weak transcription	Left Ventricle	heart
11	chr6:2191200-2196400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:2191200-2203400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:2191600-2193200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:2191800-2198000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:2192000-2193200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:2192600-2193800	Genic enhancers	Gastric	stomach
17	chr6:2192800-2193000	Enhancers	Esophagus	oesophagus
18	chr6:2192800-2193000	Weak transcription	Fetal Stomach	stomach
19	chr6:2192800-2193000	Enhancers	Right Ventricle	heart
20	chr6:2192800-2193200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:2192800-2193200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:2192800-2193200	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr6:2192800-2193200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr6:2192800-2193800	Strong transcription	Fetal Intestine Small	intestine
25	chr6:2192800-2193800	Strong transcription	HepG2	liver
26	chr6:2192800-2196600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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