Variant report

Variant	rs12804422
Chromosome Location	chr11:107680306-107680307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10502098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10502099	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10502100	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11212382	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11821199	0.85[EUR][1000 genomes]
rs11822726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823735	0.85[EUR][1000 genomes]
rs11825238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11826203	0.85[EUR][1000 genomes]
rs12574687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577931	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12791390	0.85[EUR][1000 genomes]
rs12796583	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12796590	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12799369	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12799921	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12800608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12803756	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12803802	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12803942	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12804236	0.88[EUR][1000 genomes]
rs12804516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12804640	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805491	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12808326	0.85[EUR][1000 genomes]
rs12808838	0.91[EUR][1000 genomes]
rs12808961	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17107441	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17107492	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17174388	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305282	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2305283	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305284	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2305285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34552632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35504236	0.91[EUR][1000 genomes]
rs4753818	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4754258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4754259	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4754261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4754262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4754263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61066346	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66485626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67735614	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7108401	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109020	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109240	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122568	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123192	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125153	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71488282	0.85[EUR][1000 genomes]
rs71488283	0.82[EUR][1000 genomes]
rs71488285	0.82[EUR][1000 genomes]
rs73544962	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73545002	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv556381	chr11:107644296-107684371	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv468867	chr11:107649026-107697633	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv556382	chr11:107649026-107697633	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv976506	chr11:107675189-107680893	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107658800-107680600	Weak transcription	Small Intestine	intestine
2	chr11:107661000-107693200	Weak transcription	Spleen	Spleen
3	chr11:107661800-107680600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:107661800-107685800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:107661800-107691800	Weak transcription	Esophagus	oesophagus
6	chr11:107662200-107681000	Weak transcription	Hela-S3	cervix
7	chr11:107662400-107682800	Weak transcription	Pancreas	Pancrea
8	chr11:107662400-107686400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:107662800-107683800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:107663000-107682800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:107663000-107683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:107663000-107683600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:107663200-107684200	Weak transcription	HepG2	liver
14	chr11:107663200-107690200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:107663600-107682200	Weak transcription	Ovary	ovary
16	chr11:107664600-107683800	Weak transcription	Stomach Mucosa	stomach
17	chr11:107664600-107686000	Weak transcription	Gastric	stomach
18	chr11:107666200-107680600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:107670200-107680600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:107670800-107685000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:107671200-107682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:107671200-107682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:107671600-107685000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:107671600-107685800	Weak transcription	HSMM	muscle
25	chr11:107671600-107686200	Weak transcription	NHDF-Ad	bronchial
26	chr11:107672000-107697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:107672800-107687800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:107673000-107682400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:107673000-107683200	Strong transcription	HUVEC	blood vessel
30	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
31	chr11:107673600-107682200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:107673600-107689800	Weak transcription	HMEC	breast
33	chr11:107673800-107680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:107674400-107691800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:107675800-107682600	Strong transcription	NHEK	skin
36	chr11:107676200-107684600	Strong transcription	GM12878-XiMat	blood
37	chr11:107676200-107684800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:107676400-107690000	Weak transcription	A549	lung
39	chr11:107676400-107694200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:107676600-107680400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:107676600-107682200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:107676800-107680400	Weak transcription	Fetal Intestine Small	intestine
43	chr11:107676800-107684000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:107677800-107680400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:107677800-107680800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:107677800-107681800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:107677800-107683600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:107677800-107686200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:107677800-107689600	Weak transcription	NH-A	brain
50	chr11:107677800-107691800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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