Variant report

Variant	rs640283
Chromosome Location	chr11:72682759-72682760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72682058..72684979-chr11:72694471..72696981,2	MCF-7	breast:
2	chr11:72533161..72535862-chr11:72680892..72683128,2	K562	blood:
3	chr11:72681582..72683189-chr11:72684693..72686760,2	K562	blood:
4	chr11:72679416..72681431-chr11:72682250..72684865,2	K562	blood:
5	chr11:72676395..72677930-chr11:72681229..72683225,2	K562	blood:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751221	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751223	1.00[YRI][hapmap]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2365907	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs2449665	1.00[MKK][hapmap]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs493315	1.00[MKK][hapmap]
rs4944015	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944017	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4944811	1.00[MKK][hapmap]
rs4944812	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944817	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs4944824	1.00[MKK][hapmap]
rs508532	1.00[MKK][hapmap]
rs537980	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560258	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7936863	1.00[MKK][hapmap]
rs7937866	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7950432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2422418	chr11:72646518-72807865	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv555411	chr11:72647296-72800970	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72633000-72684000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:72636200-72694800	Weak transcription	Adipose Nuclei	Adipose
3	chr11:72636400-72712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:72637000-72721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72649000-72721600	Weak transcription	Thymus	Thymus
6	chr11:72651400-72696600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:72663200-72683600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:72666200-72689600	Weak transcription	Esophagus	oesophagus
9	chr11:72666600-72721600	Weak transcription	Lung	lung
10	chr11:72667000-72700600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:72669400-72689600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:72669800-72684800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72669800-72721800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:72671000-72689400	Weak transcription	Fetal Lung	lung
15	chr11:72671200-72687400	Weak transcription	Fetal Brain Female	brain
16	chr11:72673000-72708000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:72674600-72687200	Weak transcription	Placenta	Placenta
18	chr11:72675000-72683800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:72675000-72687400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:72675000-72692000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:72675000-72692800	Weak transcription	HepG2	liver
22	chr11:72675200-72700600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:72675600-72687200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:72675600-72696600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:72675600-72696800	Weak transcription	Fetal Kidney	kidney
26	chr11:72675800-72690600	Weak transcription	Liver	Liver
27	chr11:72675800-72700800	Weak transcription	Spleen	Spleen
28	chr11:72679400-72687600	Enhancers	NHDF-Ad	bronchial
29	chr11:72679600-72687600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:72680000-72683000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:72680000-72683400	Enhancers	Dnd41	blood
32	chr11:72680000-72683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:72680000-72684800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:72680000-72684800	Enhancers	Osteobl	bone
35	chr11:72680200-72682800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:72680200-72682800	Enhancers	K562	blood
37	chr11:72680200-72683800	Enhancers	HSMMtube	muscle
38	chr11:72680200-72684200	Enhancers	Fetal Heart	heart
39	chr11:72680200-72687600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:72680200-72689600	Weak transcription	Fetal Thymus	thymus
41	chr11:72680400-72682800	Enhancers	Ovary	ovary
42	chr11:72680600-72682800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:72680600-72687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:72680800-72682800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:72680800-72683000	Enhancers	HSMM	muscle
46	chr11:72680800-72684000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:72680800-72684000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:72680800-72684200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:72680800-72684200	Enhancers	NHLF	lung
50	chr11:72681000-72682800	Genic enhancers	Primary B cells from peripheral blood	blood

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