Variant report

Variant	rs12197569
Chromosome Location	chr6:2164455-2164456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2158821..2161883-chr6:2164038..2166971,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11242728	1.00[AMR][1000 genomes]
rs12193559	1.00[AMR][1000 genomes]
rs12199891	1.00[AMR][1000 genomes]
rs12200728	1.00[AMR][1000 genomes]
rs12202115	1.00[CEU][hapmap]
rs12207776	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12208648	1.00[CEU][hapmap]
rs12209238	1.00[AMR][1000 genomes]
rs12211261	1.00[CEU][hapmap]
rs12213464	1.00[AMR][1000 genomes]
rs72830110	1.00[AMR][1000 genomes]
rs72830120	1.00[AMR][1000 genomes]
rs72830125	1.00[AMR][1000 genomes]
rs72830127	1.00[AMR][1000 genomes]
rs9391940	1.00[AMR][1000 genomes]
rs9405538	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv883387	chr6:2086679-2176239	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2159200-2166800	Weak transcription	A549	lung
2	chr6:2162600-2168200	Weak transcription	NHDF-Ad	bronchial
3	chr6:2162800-2165400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:2162800-2166800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:2163000-2167200	Weak transcription	NHLF	lung
6	chr6:2163000-2168200	Weak transcription	NH-A	brain
7	chr6:2163200-2165000	Weak transcription	HSMM	muscle
8	chr6:2163200-2165200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:2163200-2165400	Weak transcription	Right Atrium	heart
10	chr6:2163200-2167000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:2163200-2168200	Weak transcription	Adipose Nuclei	Adipose
12	chr6:2163400-2165400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:2163400-2167000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:2163400-2167800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:2163400-2168400	Weak transcription	HSMMtube	muscle
16	chr6:2163600-2164600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:2163600-2165200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:2163600-2165400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:2163600-2166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:2163600-2167000	Weak transcription	Osteobl	bone
21	chr6:2163600-2176800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:2163800-2165400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:2163800-2166600	Weak transcription	Aorta	Aorta
24	chr6:2163800-2167000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:2163800-2167000	Weak transcription	Hela-S3	cervix
26	chr6:2163800-2167800	Weak transcription	Pancreas	Pancrea
27	chr6:2163800-2168200	Weak transcription	Small Intestine	intestine
28	chr6:2164000-2165000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr6:2164200-2166800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:2164200-2166800	Weak transcription	HepG2	liver
31	chr6:2164200-2168400	Weak transcription	Gastric	stomach
32	chr6:2164400-2164600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:2164400-2165200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:2164400-2166000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links