Variant report

Variant	rs511895
Chromosome Location	chr11:34487729-34487730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34393782..34397128-chr11:34486521..34490392,3	K562	blood:
2	chr11:34437235..34439770-chr11:34486159..34487859,2	K562	blood:
3	chr11:34460644..34463318-chr11:34487662..34489990,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1001179	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10836230	0.85[CEU][hapmap]
rs10836234	0.85[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs11032654	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]
rs11032695	0.85[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap]
rs11032718	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11032722	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032723	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032724	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11032726	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11032728	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11604331	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12790145	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12797274	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs12797675	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12804506	0.88[CHD][hapmap];0.89[GIH][hapmap]
rs12804689	0.89[GIH][hapmap]
rs12807961	0.85[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs12808450	0.85[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap]
rs1408041	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1535719	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269903	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17269931	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2146962	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2231821	0.90[ASN][1000 genomes]
rs2231825	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs2231828	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420386	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2476504	1.00[JPT][hapmap]
rs34234992	0.90[ASN][1000 genomes]
rs34366473	0.90[ASN][1000 genomes]
rs34901344	0.90[ASN][1000 genomes]
rs35495760	0.90[ASN][1000 genomes]
rs475043	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508370	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs524167	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898107	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs560807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737254	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs511895	CAT	cis	Whole Blood	GTEx
rs511895	DEPDC7	cis	parietal	SCAN
rs511895	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs511895	CAT	cis	cerebellum	SCAN
rs511895	CAT	cis	lymphoblastoid	seeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34470800-34488000	Strong transcription	Brain Hippocampus Middle	brain
2	chr11:34470800-34488000	Strong transcription	Fetal Intestine Large	intestine
3	chr11:34470800-34494200	Strong transcription	Brain Germinal Matrix	brain
4	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr11:34471000-34494000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:34471400-34487800	Strong transcription	Colon Smooth Muscle	Colon
7	chr11:34471400-34488000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:34471400-34488000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:34471400-34494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
11	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:34471600-34487800	Strong transcription	HSMMtube	muscle
14	chr11:34471600-34488000	Strong transcription	Fetal Thymus	thymus
15	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:34473600-34488000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:34474000-34487800	Strong transcription	Lung	lung
19	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:34477600-34487800	Strong transcription	Brain Substantia Nigra	brain
23	chr11:34477600-34487800	Strong transcription	Spleen	Spleen
24	chr11:34477800-34488400	Strong transcription	Brain Anterior Caudate	brain
25	chr11:34478200-34492800	Strong transcription	Rectal Smooth Muscle	rectum
26	chr11:34481600-34488000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:34481800-34488200	Strong transcription	Left Ventricle	heart
28	chr11:34482400-34494200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:34482400-34495000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr11:34482600-34487800	Strong transcription	Right Ventricle	heart
31	chr11:34482600-34488000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:34482600-34488800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr11:34483000-34489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:34483400-34501600	Weak transcription	HMEC	breast
35	chr11:34484200-34488000	Strong transcription	Psoas Muscle	Psoas
36	chr11:34484400-34487800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:34484600-34489200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:34484600-34491400	Strong transcription	Fetal Brain Male	brain
39	chr11:34485000-34489200	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr11:34485000-34489400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr11:34485000-34489400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:34485200-34489600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:34485400-34487800	Strong transcription	Small Intestine	intestine
44	chr11:34485400-34490400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:34485400-34490600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:34485600-34488000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:34485600-34488000	Strong transcription	Stomach Mucosa	stomach
48	chr11:34485600-34488400	Strong transcription	Fetal Kidney	kidney
49	chr11:34485800-34487800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:34485800-34487800	Strong transcription	Placenta Amnion	Placenta Amnion

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