Variant report

Variant	rs11242747
Chromosome Location	chr6:2221847-2221848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10458134	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11242746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198593	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12198715	0.80[EUR][1000 genomes]
rs12207377	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12209836	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12215717	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12216224	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12523924	0.80[EUR][1000 genomes]
rs12529507	0.88[ASN][1000 genomes]
rs12664420	0.80[EUR][1000 genomes]
rs12665003	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13202573	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13206299	0.81[AMR][1000 genomes]
rs13215846	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17134819	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2295009	0.88[ASN][1000 genomes]
rs35063859	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35410074	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3800189	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58348518	0.80[EUR][1000 genomes]
rs60015886	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9501817	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2207000-2222000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:2208400-2222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:2212600-2222200	Weak transcription	Aorta	Aorta
6	chr6:2214000-2222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:2214000-2222400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:2214400-2222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:2215800-2222000	Weak transcription	Ovary	ovary
10	chr6:2216000-2222000	Weak transcription	Left Ventricle	heart
11	chr6:2217200-2222000	Weak transcription	Small Intestine	intestine
12	chr6:2217400-2222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:2217400-2222400	Weak transcription	Lung	lung
14	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:2217600-2222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:2217600-2222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:2217600-2222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:2218200-2222200	Weak transcription	Stomach Mucosa	stomach
20	chr6:2218400-2222200	Weak transcription	Pancreas	Pancrea
21	chr6:2219400-2224600	Genic enhancers	HepG2	liver
22	chr6:2219800-2222000	Weak transcription	Adipose Nuclei	Adipose
23	chr6:2219800-2222000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:2220600-2222000	Weak transcription	Fetal Thymus	thymus
25	chr6:2220800-2222000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:2221400-2222800	Weak transcription	Gastric	stomach
27	chr6:2221800-2222000	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:2221800-2222000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr6:2221800-2222000	Active TSS	Primary hematopoietic stem cells	blood
30	chr6:2221800-2222000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:2221800-2222000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:2221800-2222000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:2221800-2222000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:2221800-2222000	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:2221800-2222200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:2221800-2222400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:2221800-2222600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:2221800-2222600	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:2221800-2223000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr6:2221800-2223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:2221800-2223200	Flanking Active TSS	Hela-S3	cervix

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