Variant report

Variant	rs2508204
Chromosome Location	chr11:72001820-72001821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72001566..72002092-chr11:72144828..72145653,2	MCF-7	breast:
2	chr11:72000816..72003151-chr11:72122294..72124568,2	K562	blood:
3	chr11:72001346..72002090-chr11:72063634..72064166,2	MCF-7	breast:
4	chr11:72001506..72002537-chr11:72144834..72145691,3	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12416741	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418533	0.80[ASN][1000 genomes]
rs1783632	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1784257	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508199	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2508201	0.90[ASN][1000 genomes]
rs2508861	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508865	0.90[ASN][1000 genomes]
rs2508866	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36049191	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs472837	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477354	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs487288	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs506041	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55723921	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56229279	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56333926	0.96[ASN][1000 genomes]
rs57276029	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57291879	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57464210	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57614093	0.90[ASN][1000 genomes]
rs57669200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58306819	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58489620	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58753751	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs590732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59427981	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59509230	0.87[ASN][1000 genomes]
rs59612321	0.90[ASN][1000 genomes]
rs59980097	0.87[ASN][1000 genomes]
rs60024067	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60849224	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61563240	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs650834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108974	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7116854	0.90[ASN][1000 genomes]
rs7130652	0.90[ASN][1000 genomes]
rs73528886	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73528892	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73528897	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7952074	0.80[AMR][1000 genomes];0.89[ASN][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	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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71993800-72004800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:71994000-72004200	Weak transcription	HSMMtube	muscle
3	chr11:71994000-72004600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:71995400-72003200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:71996200-72003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:71997200-72003200	Weak transcription	Esophagus	oesophagus
8	chr11:71997200-72003200	Weak transcription	Pancreas	Pancrea
9	chr11:71997400-72003200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:71997400-72004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:71997600-72003000	Weak transcription	Fetal Intestine Small	intestine
12	chr11:71997600-72003200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:71997800-72003200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:71997800-72003200	Weak transcription	Fetal Brain Female	brain
15	chr11:71997800-72003200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:71997800-72003400	Weak transcription	Gastric	stomach
17	chr11:71997800-72004200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:71998000-72003200	Weak transcription	Primary T cells from cord blood	blood
19	chr11:71998000-72003200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:71998000-72003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:71998000-72003400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:71998000-72003400	Weak transcription	Liver	Liver
23	chr11:71998000-72012200	Weak transcription	NH-A	brain
24	chr11:71998200-72003200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:71998200-72003200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:71998200-72003400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:71998600-72003200	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:71998600-72003200	Weak transcription	NHLF	lung
29	chr11:71999200-72003200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:71999800-72003200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:71999800-72005200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:72000000-72003200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:72000000-72003200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:72000000-72003200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:72000000-72003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:72000200-72003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:72000200-72013600	Weak transcription	HUVEC	blood vessel
38	chr11:72000400-72003200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:72000400-72003200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:72000400-72003200	Weak transcription	Brain Angular Gyrus	brain
41	chr11:72000400-72003400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:72000400-72003800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:72000400-72003800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:72000400-72008200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:72000400-72017200	Weak transcription	Fetal Brain Male	brain
46	chr11:72000600-72003000	Weak transcription	Fetal Stomach	stomach
47	chr11:72000600-72003200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:72000600-72003200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:72000600-72003200	Weak transcription	NHEK	skin
50	chr11:72000600-72004000	Weak transcription	Aorta	Aorta

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