Variant report

Variant	rs1004856
Chromosome Location	chr11:75180967-75180968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75112364..75115138-chr11:75178491..75181185,2	K562	blood:
2	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
3	chr11:75109241..75111992-chr11:75179238..75181170,2	K562	blood:

Variant related genes	Relation type
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10751243	0.91[AFR][1000 genomes]
rs11236441	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1540210	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs1540211	1.00[JPT][hapmap]
rs1557471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557474	0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs1631470	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790145	0.86[AFR][1000 genomes]
rs1790147	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1790149	0.85[YRI][hapmap];0.89[AFR][1000 genomes]
rs1790152	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1790153	0.87[AFR][1000 genomes]
rs1790154	0.82[YRI][hapmap];0.90[AFR][1000 genomes]
rs1790156	0.95[AFR][1000 genomes]
rs1793410	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1793411	0.82[AFR][1000 genomes]
rs1793414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793415	0.90[YRI][hapmap];0.92[AFR][1000 genomes]
rs2853066	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs499613	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs504793	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs511190	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs514477	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs540269	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs544719	0.93[EUR][1000 genomes]
rs546632	0.91[AFR][1000 genomes]
rs548439	0.94[EUR][1000 genomes]
rs549034	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs550881	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs550957	0.88[AFR][1000 genomes]
rs566818	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs571353	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs581007	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs589724	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs611449	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs623338	0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs625938	0.85[AFR][1000 genomes]
rs628972	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs653673	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs667410	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs668727	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs669601	0.95[EUR][1000 genomes]
rs682292	0.95[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv993847	chr11:75176894-75187181	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
4	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:75165200-75187000	Strong transcription	HepG2	liver
9	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
10	chr11:75168400-75183400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:75172000-75184400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:75172200-75184400	Enhancers	Spleen	Spleen
13	chr11:75172400-75183200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:75173000-75181200	Enhancers	HUVEC	blood vessel
15	chr11:75173400-75185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:75173600-75185800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:75174600-75186600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:75175600-75184000	Enhancers	Fetal Muscle Leg	muscle
19	chr11:75176200-75181000	Genic enhancers	Placenta	Placenta
20	chr11:75176200-75184600	Enhancers	HSMMtube	muscle
21	chr11:75177200-75181000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:75177400-75186800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:75177800-75182600	Weak transcription	HMEC	breast
24	chr11:75178600-75182000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:75178600-75185800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:75179000-75181400	Enhancers	Fetal Brain Male	brain
27	chr11:75179400-75181000	Enhancers	Adipose Nuclei	Adipose
28	chr11:75179400-75182000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:75179600-75182400	Weak transcription	Fetal Intestine Large	intestine
30	chr11:75180000-75183200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:75180200-75181400	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:75180200-75185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:75180200-75185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:75180200-75185200	Weak transcription	Liver	Liver
35	chr11:75180200-75186000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:75180200-75186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:75180400-75181000	Weak transcription	Fetal Heart	heart
38	chr11:75180400-75181400	Weak transcription	Fetal Brain Female	brain
39	chr11:75180400-75181800	Weak transcription	HSMM	muscle
40	chr11:75180400-75182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75180400-75182600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:75180400-75184800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:75180400-75185200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:75180400-75185600	Weak transcription	Esophagus	oesophagus
45	chr11:75180400-75185600	Weak transcription	Fetal Lung	lung
46	chr11:75180400-75186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:75180400-75186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:75180400-75186400	Weak transcription	Brain Germinal Matrix	brain
49	chr11:75180400-75186400	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:75180400-75186400	Weak transcription	Osteobl	bone

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