Variant report

Variant	rs12280063
Chromosome Location	chr11:73727828-73727829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73692695..73694279-chr11:73727218..73729337,2	K562	blood:
2	chr11:73720266..73722742-chr11:73727653..73729816,3	K562	blood:
3	chr11:73725519..73728147-chr11:73728778..73731606,2	MCF-7	breast:
4	chr11:73726799..73729660-chr11:73730296..73732762,2	MCF-7	breast:
5	chr11:73692496..73695523-chr11:73726930..73730981,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCP3-3	chr11:73727644-73727846	NONHSAT022874

No data

Variant related genes	Relation type
ENSG00000175564	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1095419	1.00[EUR][1000 genomes]
rs1095420	1.00[EUR][1000 genomes]
rs1095428	1.00[EUR][1000 genomes]
rs11235982	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12275089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12287317	1.00[EUR][1000 genomes]
rs12291461	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1320428	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320429	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1612071	0.86[AMR][1000 genomes]
rs1617256	1.00[EUR][1000 genomes]
rs1618253	1.00[EUR][1000 genomes]
rs1618727	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1622307	1.00[EUR][1000 genomes]
rs1685337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1685343	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17132632	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1726753	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726754	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726758	1.00[EUR][1000 genomes]
rs1726760	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726761	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1726765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726767	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1726768	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790393	1.00[GIH][hapmap]
rs36207715	1.00[EUR][1000 genomes]
rs699140	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699141	1.00[EUR][1000 genomes]
rs7117091	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7117831	1.00[MEX][hapmap]
rs7123549	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7127358	1.00[GIH][hapmap]
rs7129659	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7129774	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7130095	1.00[MEX][hapmap]
rs826032	1.00[EUR][1000 genomes]
rs826034	1.00[EUR][1000 genomes]
rs826036	1.00[EUR][1000 genomes]
rs826037	1.00[EUR][1000 genomes]
rs826040	1.00[EUR][1000 genomes]
rs826041	1.00[EUR][1000 genomes]
rs826043	1.00[EUR][1000 genomes]
rs826045	1.00[EUR][1000 genomes]
rs826047	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs826052	1.00[EUR][1000 genomes]
rs826063	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs826065	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs826070	1.00[EUR][1000 genomes]
rs826075	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs826080	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826081	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs826082	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs826086	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs826088	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs826091	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs861144	1.00[EUR][1000 genomes]
rs941250	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941253	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
4	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
5	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
11	chr11:73715000-73729800	Weak transcription	Ovary	ovary
12	chr11:73716400-73728000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:73718600-73728800	Weak transcription	Liver	Liver
14	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:73720400-73728000	Weak transcription	HepG2	liver
16	chr11:73721200-73731600	Strong transcription	Fetal Brain Female	brain
17	chr11:73721400-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:73721600-73729000	Strong transcription	Fetal Intestine Small	intestine
19	chr11:73721600-73729600	Strong transcription	Fetal Stomach	stomach
20	chr11:73721600-73729800	Weak transcription	HMEC	breast
21	chr11:73721600-73731400	Strong transcription	Brain Germinal Matrix	brain
22	chr11:73721800-73729200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:73721800-73730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73722200-73728000	Strong transcription	Fetal Intestine Large	intestine
27	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:73722400-73729800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:73722400-73731600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73722600-73728200	Strong transcription	HSMMtube	muscle
31	chr11:73722600-73729000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:73722800-73728800	Strong transcription	Placenta	Placenta
33	chr11:73722800-73729000	Weak transcription	Colonic Mucosa	Colon
34	chr11:73723000-73728000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:73723000-73728000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:73723000-73728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:73723000-73728600	Weak transcription	Psoas Muscle	Psoas
38	chr11:73723000-73729200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:73723200-73728000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:73723200-73728400	Enhancers	K562	blood
41	chr11:73723200-73729200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:73723200-73729200	Weak transcription	NHLF	lung
43	chr11:73723400-73729200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:73723400-73729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73723600-73728200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:73723600-73729000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:73723800-73728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:73724000-73728800	Strong transcription	Brain Hippocampus Middle	brain
49	chr11:73724200-73728600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73724200-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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