Variant report

Variant	rs12286997
Chromosome Location	chr11:71169753-71169754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71156500..71159446-chr11:71168763..71171365,2	MCF-7	breast:
2	chr11:71133834..71136520-chr11:71167902..71170100,2	K562	blood:
3	chr11:71169153..71171871-chr15:71407229..71409186,2	MCF-7	breast:
4	chr11:71168777..71171362-chr11:71186051..71188733,3	MCF-7	breast:
5	chr11:71141203..71142816-chr11:71167410..71170126,2	K562	blood:
6	chr11:71148971..71151338-chr11:71168441..71170765,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction
ENSG00000172900	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10450662	0.91[AFR][1000 genomes];0.91[AMR][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	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	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[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12284909	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];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[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs57696920	0.84[AFR][1000 genomes]
rs57990658	0.82[AFR][1000 genomes]
rs59553442	1.00[EUR][1000 genomes]
rs59601821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs61663342	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs7123872	0.82[AFR][1000 genomes]
rs7129788	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs7130038	0.84[AFR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950991	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	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
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:71165200-71169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:71165200-71177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:71165200-71177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
7	chr11:71165400-71170000	Weak transcription	Small Intestine	intestine
8	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
9	chr11:71165800-71170000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71165800-71171200	Strong transcription	K562	blood
11	chr11:71165800-71171800	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr11:71165800-71172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:71165800-71173000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:71165800-71174000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:71165800-71175800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:71165800-71178200	Strong transcription	NHLF	lung
17	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
18	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:71166000-71171400	Strong transcription	Brain Angular Gyrus	brain
24	chr11:71166000-71171600	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr11:71166000-71171600	Strong transcription	Brain Germinal Matrix	brain
26	chr11:71166000-71172000	Strong transcription	Fetal Brain Female	brain
27	chr11:71166000-71173000	Strong transcription	Osteobl	bone
28	chr11:71166000-71173600	Strong transcription	HSMM	muscle
29	chr11:71166000-71173800	Strong transcription	Brain Substantia Nigra	brain
30	chr11:71166000-71175400	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:71166000-71175600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:71166000-71176000	Strong transcription	Brain Anterior Caudate	brain
33	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
35	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
36	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:71166000-71180000	Strong transcription	A549	lung
38	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
41	chr11:71166200-71169800	Strong transcription	Gastric	stomach
42	chr11:71166200-71171000	Strong transcription	Fetal Lung	lung
43	chr11:71166200-71171200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:71166200-71171400	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:71166200-71171600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:71166200-71171600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:71166200-71171600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:71166200-71171600	Strong transcription	Ovary	ovary
49	chr11:71166200-71171800	Strong transcription	HUVEC	blood vessel
50	chr11:71166200-71172000	Strong transcription	Primary hematopoietic stem cells	blood

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