Variant report

Variant	rs12283407
Chromosome Location	chr11:71215880-71215881
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	chr11:71212078..71213595-chr11:71215421..71217314,2	K562	blood:
2	chr11:71214959..71216939-chr11:71218643..71221307,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTAP5-7-1	chr11:71214910-71216920	NONHSAT022690

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10160376	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10160536	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234008	1.00[LWK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11234009	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277617	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[LWK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3814732	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56012338	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56120850	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs61440863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950649	1.00[LWK][hapmap]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
9	chr11:71182400-71217200	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:71182400-71217600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:71182400-71217800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:71182800-71216400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:71189800-71218400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:71199600-71216400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:71199600-71218400	Strong transcription	Fetal Intestine Small	intestine
16	chr11:71200000-71216000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:71200200-71216000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:71200200-71216400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:71200200-71217400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:71200400-71216200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:71200400-71216400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:71200800-71216800	Weak transcription	Fetal Kidney	kidney
23	chr11:71201000-71216200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:71201800-71216400	Strong transcription	Ovary	ovary
25	chr11:71203400-71216800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:71205200-71216000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:71209400-71218800	Weak transcription	Small Intestine	intestine
28	chr11:71210200-71217600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:71210400-71216000	Strong transcription	Dnd41	blood
30	chr11:71210400-71217800	Weak transcription	Osteobl	bone
31	chr11:71210400-71220200	Weak transcription	NHEK	skin
32	chr11:71210600-71219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:71211600-71218800	Weak transcription	HMEC	breast
34	chr11:71211800-71216200	Weak transcription	Stomach Mucosa	stomach
35	chr11:71211800-71217400	Strong transcription	Gastric	stomach
36	chr11:71211800-71220600	Weak transcription	NH-A	brain
37	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:71212000-71216200	Weak transcription	Fetal Lung	lung
39	chr11:71212000-71218200	Weak transcription	HSMMtube	muscle
40	chr11:71212000-71220600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:71212200-71216200	Strong transcription	Adipose Nuclei	Adipose
42	chr11:71212200-71218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:71213000-71217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:71213000-71219600	Weak transcription	Primary B cells from cord blood	blood
45	chr11:71213000-71220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:71213200-71217600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:71213200-71218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:71213200-71220600	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:71213400-71217400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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