Variant report

Variant	rs947844
Chromosome Location	chr11:75228884-75228885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75227174..75228949-chr11:75236269..75238629,2	MCF-7	breast:
2	chr11:75156609..75158880-chr11:75228671..75231631,2	MCF-7	breast:
3	chr11:75224068..75229006-chr11:75230364..75234823,7	K562	blood:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10899091	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs10899092	0.82[EUR][1000 genomes]
rs11236448	0.92[ASN][1000 genomes]
rs11236449	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11236452	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11236454	0.82[EUR][1000 genomes]
rs12291026	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs12361128	0.92[ASN][1000 genomes]
rs12362081	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12362890	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1783551	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs1783559	0.81[CEU][hapmap]
rs1938800	0.88[CHD][hapmap]
rs55702115	0.82[EUR][1000 genomes]
rs56232370	0.82[EUR][1000 genomes]
rs618202	0.84[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs662358	0.86[EUR][1000 genomes]
rs7109103	0.82[EUR][1000 genomes]
rs7110149	0.82[EUR][1000 genomes]
rs7128888	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs7129014	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7129150	0.82[EUR][1000 genomes]
rs72989929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989989	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938523	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75216200-75233600	Genic enhancers	Fetal Intestine Small	intestine
2	chr11:75217800-75234800	Weak transcription	Ovary	ovary
3	chr11:75219000-75231800	Weak transcription	Right Atrium	heart
4	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:75222000-75230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:75222200-75229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:75225000-75230400	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:75225400-75229200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:75225400-75229800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:75225600-75229600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:75225600-75231000	Weak transcription	Adipose Nuclei	Adipose
12	chr11:75227200-75229400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:75227200-75229400	Enhancers	K562	blood
14	chr11:75227200-75230200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:75227400-75229800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:75227400-75230200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:75227600-75230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:75227600-75230400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:75227800-75229000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:75227800-75229000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:75227800-75229000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:75227800-75229200	Enhancers	Placenta	Placenta
23	chr11:75227800-75234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:75227800-75234400	Enhancers	Fetal Intestine Large	intestine
25	chr11:75228000-75229000	Weak transcription	HSMMtube	muscle
26	chr11:75228000-75229200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:75228000-75229400	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:75228000-75230000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75228000-75230400	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:75228200-75230400	Enhancers	GM12878-XiMat	blood
31	chr11:75228400-75230200	Enhancers	Fetal Thymus	thymus
32	chr11:75228600-75229200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:75228600-75229400	Enhancers	Pancreas	Pancrea
34	chr11:75228600-75230200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:75228600-75230400	Enhancers	Spleen	Spleen
36	chr11:75228600-75230600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:75228600-75230600	Flanking Active TSS	HepG2	liver
38	chr11:75228600-75232800	Enhancers	Fetal Muscle Leg	muscle
39	chr11:75228600-75234400	Weak transcription	Lung	lung
40	chr11:75228800-75229000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:75228800-75230400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:75228800-75230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:75228800-75230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:75228800-75231000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:75228800-75231200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:75228800-75231800	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:75228800-75232200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:75228800-75234800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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