Variant report

Variant	rs2008722
Chromosome Location	chr11:73366546-73366547
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73366358-73366922	K562	blood:	n/a	n/a
2	POLR2A	chr11:73365439-73366779	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73366404..73368809-chr11:73373660..73375819,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000252732	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10047427	1.00[MEX][hapmap]
rs11235782	1.00[MEX][hapmap]
rs11235817	1.00[MEX][hapmap]
rs12281470	1.00[MEX][hapmap]
rs12282576	1.00[MEX][hapmap]
rs1525750	0.86[CEU][hapmap]
rs1723834	0.90[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1723838	0.90[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1723844	0.90[ASW][hapmap]
rs1723845	0.90[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1723846	0.81[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs1723849	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap]
rs17310361	1.00[MEX][hapmap]
rs1880643	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037709	0.87[CEU][hapmap]
rs2056649	0.87[CEU][hapmap]
rs2511262	0.90[ASW][hapmap];1.00[GIH][hapmap]
rs4944026	0.87[CEU][hapmap]
rs4944854	0.87[CEU][hapmap]
rs4944859	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs4944860	0.87[CEU][hapmap]
rs4944865	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap]
rs594814	0.81[ASW][hapmap];1.00[MEX][hapmap]
rs610280	0.90[ASW][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap]
rs620059	0.82[AFR][1000 genomes]
rs652229	0.90[ASW][hapmap];0.87[YRI][hapmap]
rs6592528	0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs6592529	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs7108695	0.82[CEU][hapmap]
rs7932364	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs940831	0.82[CEU][hapmap]
rs9634024	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	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
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
2	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
3	chr11:73359200-73367200	Weak transcription	Spleen	Spleen
4	chr11:73359200-73371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:73359200-73371600	Weak transcription	Thymus	Thymus
6	chr11:73359200-73371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:73359400-73367000	Weak transcription	Lung	lung
8	chr11:73359400-73371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73359800-73371800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:73359800-73371800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:73361400-73367800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:73361800-73369200	Strong transcription	Primary T cells from cord blood	blood
14	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
15	chr11:73362400-73366600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:73362800-73366600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:73362800-73367600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:73363400-73370400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:73363400-73371600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:73363600-73370400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:73363600-73371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:73363800-73366600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:73363800-73368000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:73363800-73371600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:73364000-73366600	Weak transcription	Pancreas	Pancrea
27	chr11:73364000-73371400	Weak transcription	Fetal Intestine Small	intestine
28	chr11:73364000-73371800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:73364200-73366600	Genic enhancers	HepG2	liver
30	chr11:73364400-73368800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:73364400-73371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:73364400-73371600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:73364400-73371800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:73364400-73371800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:73364600-73371400	Weak transcription	Stomach Mucosa	stomach
36	chr11:73364600-73371600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:73364800-73371800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:73365200-73367000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:73365400-73371600	Weak transcription	Osteobl	bone
40	chr11:73365400-73371800	Weak transcription	Right Atrium	heart
41	chr11:73365600-73367600	Strong transcription	Brain Anterior Caudate	brain
42	chr11:73365600-73368000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:73365600-73369200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr11:73365800-73366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:73365800-73371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:73365800-73371600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:73366000-73367600	Strong transcription	Brain Angular Gyrus	brain
48	chr11:73366000-73369000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:73366000-73371400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:73366000-73371600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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