Variant report

Variant	rs11990277
Chromosome Location	chr8:11372085-11372086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11366501..11369054-chr8:11369431..11373497,4	K562	blood:
2	chr8:11366572..11369135-chr8:11369191..11372086,2	MCF-7	breast:
3	chr8:11370033..11372316-chr8:11374081..11376704,2	K562	blood:
4	chr8:11369455..11372316-chr8:11373710..11376704,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11250141	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11250142	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11250143	0.81[ASN][1000 genomes]
rs11250144	0.83[CHB][hapmap];0.86[AMR][1000 genomes]
rs11991127	0.93[JPT][hapmap]
rs12674768	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12677843	0.87[MEX][hapmap];0.85[AMR][1000 genomes]
rs12677903	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277113	0.87[MEX][hapmap]
rs1382566	0.82[CHD][hapmap];0.94[JPT][hapmap]
rs1478897	0.89[JPT][hapmap]
rs1600249	1.00[ASW][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs17153385	0.87[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17153419	0.94[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes]
rs2248932	0.89[JPT][hapmap]
rs2249259	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2280805	0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2618455	0.90[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2618456	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2618476	0.87[MEX][hapmap]
rs2736354	0.84[CHD][hapmap]
rs2736356	0.81[ASN][1000 genomes]
rs2736359	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2736360	0.87[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2898282	0.81[ASN][1000 genomes]
rs4841546	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4841550	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs6993775	0.87[CHD][hapmap]
rs7014565	0.84[JPT][hapmap]
rs73209286	0.84[ASN][1000 genomes]
rs7814834	0.94[JPT][hapmap]
rs9329246	0.89[JPT][hapmap]
rs9657551	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs998683	0.87[MEX][hapmap]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs11990277	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11990277	FAM167A	cis	lymphoblastoid	seeQTL
rs11990277	BLK	cis	multi-tissue	Pritchard
rs11990277	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs11990277	PRSS55	cis	cerebellum	SCAN
rs11990277	MFHAS1	cis	cerebellum	SCAN
rs11990277	FAM167A	cis	parietal	SCAN
rs11990277	TDH	cis	cerebellum	SCAN
rs11990277	BLK	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11365400-11373400	Enhancers	NHEK	skin
3	chr8:11365800-11374600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:11366600-11375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11367000-11373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:11368200-11372600	Weak transcription	NHLF	lung
7	chr8:11368800-11374600	Enhancers	HSMM	muscle
8	chr8:11368800-11375800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11369200-11372600	Weak transcription	HUVEC	blood vessel
10	chr8:11369400-11372400	Weak transcription	HMEC	breast
11	chr8:11369400-11372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:11369400-11372600	Weak transcription	NH-A	brain
13	chr8:11369400-11373000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:11369400-11373200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:11369600-11372600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:11369600-11372800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:11369800-11372600	Weak transcription	NHDF-Ad	bronchial
18	chr8:11370000-11373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:11370200-11372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:11370200-11375000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:11370400-11372400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:11370600-11373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:11370600-11375400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:11370800-11374600	Genic enhancers	Primary B cells from cord blood	blood
25	chr8:11371000-11373800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:11371200-11372400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr8:11371200-11372800	Weak transcription	Osteobl	bone
28	chr8:11371400-11372600	Weak transcription	HSMMtube	muscle
29	chr8:11371600-11372200	Enhancers	Colonic Mucosa	Colon
30	chr8:11371600-11372400	Genic enhancers	GM12878-XiMat	blood
31	chr8:11371600-11372600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:11372000-11372200	Enhancers	Spleen	Spleen
33	chr8:11372000-11376000	Enhancers	Placenta Amnion	Placenta Amnion

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