Variant report

Variant	rs12674768
Chromosome Location	chr8:11371547-11371548
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: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11250141	0.88[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11250142	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11250143	0.82[ASN][1000 genomes]
rs11250144	0.87[AMR][1000 genomes]
rs11990277	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]
rs11991127	0.87[JPT][hapmap]
rs12677843	0.86[AMR][1000 genomes]
rs12677903	0.86[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1382566	0.90[JPT][hapmap]
rs1478897	0.84[JPT][hapmap]
rs1600249	0.82[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs17153385	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs17153419	0.88[CHB][hapmap];0.81[AMR][1000 genomes]
rs2248932	0.84[JPT][hapmap]
rs2249259	0.83[JPT][hapmap]
rs2280805	0.88[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2409781	0.81[CHB][hapmap]
rs2618455	0.90[JPT][hapmap]
rs2618456	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2736356	0.80[ASN][1000 genomes]
rs2736359	0.81[ASN][1000 genomes]
rs2736360	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4841546	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4841550	0.86[JPT][hapmap]
rs73209286	0.84[ASN][1000 genomes]
rs7814834	0.89[JPT][hapmap]
rs9329246	0.84[JPT][hapmap]
rs9657551	0.89[JPT][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12674768	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs12674768	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs12674768	BLK	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 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	chr8:11364800-11372000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:11365400-11373400	Enhancers	NHEK	skin
4	chr8:11365600-11372000	Weak transcription	Spleen	Spleen
5	chr8:11365800-11374600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:11366600-11375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11367000-11373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:11368200-11372600	Weak transcription	NHLF	lung
9	chr8:11368800-11371600	Strong transcription	GM12878-XiMat	blood
10	chr8:11368800-11374600	Enhancers	HSMM	muscle
11	chr8:11368800-11375800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:11369200-11372600	Weak transcription	HUVEC	blood vessel
13	chr8:11369400-11372400	Weak transcription	HMEC	breast
14	chr8:11369400-11372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:11369400-11372600	Weak transcription	NH-A	brain
16	chr8:11369400-11373000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:11369400-11373200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:11369600-11372600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:11369600-11372800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:11369800-11372600	Weak transcription	NHDF-Ad	bronchial
21	chr8:11370000-11373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:11370200-11372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:11370200-11375000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:11370400-11372400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:11370600-11373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:11370600-11375400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:11370800-11374600	Genic enhancers	Primary B cells from cord blood	blood
28	chr8:11371000-11373800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:11371200-11371600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:11371200-11372400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr8:11371200-11372800	Weak transcription	Osteobl	bone
32	chr8:11371400-11372600	Weak transcription	HSMMtube	muscle

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