Variant report

Variant	rs1790147
Chromosome Location	chr11:75171809-75171810
allele	A/G
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	MXI1	chr11:75171667-75172972	SK-N-SH	brain:	n/a	n/a
2	EP300	chr11:75171808-75174602	ECC-1	luminal epithelium:	n/a	chr11:75174560-75174569

No.	Distal block	Cell Line	Cell type
1	chr11:75171275..75173319-chr11:75174538..75177396,2	K562	blood:
2	chr11:75166133..75169572-chr11:75169644..75173487,4	K562	blood:
3	chr11:75109689..75111968-chr11:75171052..75174187,3	K562	blood:

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1004856	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11236441	0.91[EUR][1000 genomes]
rs1540210	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1557471	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1631470	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1790152	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1793410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1793414	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2853066	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs499613	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs504793	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs511190	0.87[EUR][1000 genomes]
rs514477	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs540269	0.87[EUR][1000 genomes]
rs544719	0.92[EUR][1000 genomes]
rs548439	0.94[EUR][1000 genomes]
rs549034	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs550881	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs566818	0.87[EUR][1000 genomes]
rs571353	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs581007	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs589724	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs628972	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs667410	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs669601	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs682292	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:75144600-75174000	Weak transcription	Liver	Liver
4	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
5	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
6	chr11:75146400-75173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:75150400-75172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:75153800-75176600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:75159000-75172800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:75160600-75173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:75161600-75176600	Weak transcription	Right Ventricle	heart
14	chr11:75162600-75172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:75164000-75174000	Weak transcription	Lung	lung
18	chr11:75165200-75187000	Strong transcription	HepG2	liver
19	chr11:75165400-75175400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:75165800-75178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:75166200-75176800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:75166400-75178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:75166600-75173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
25	chr11:75166800-75172200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:75166800-75174400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:75167000-75172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:75167400-75180400	Weak transcription	Aorta	Aorta
29	chr11:75168000-75173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:75168200-75172800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:75168200-75177200	Weak transcription	Fetal Stomach	stomach
32	chr11:75168400-75172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:75168400-75183400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:75168800-75173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:75169200-75177400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:75169400-75172000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:75169400-75172000	Weak transcription	HSMMtube	muscle
38	chr11:75171000-75173600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:75171000-75173600	Strong transcription	Adipose Nuclei	Adipose
40	chr11:75171200-75172600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75171400-75172200	Strong transcription	Fetal Brain Female	brain
42	chr11:75171600-75172200	Genic enhancers	Spleen	Spleen
43	chr11:75171600-75173000	Strong transcription	Placenta	Placenta
44	chr11:75171800-75172400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:75171800-75172400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:75171800-75173000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:75171800-75173000	Enhancers	NHDF-Ad	bronchial

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