Variant report

Variant	rs2409764
Chromosome Location	chr8:11281273-11281274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11277465..11279000-chr8:11280296..11282136,2	K562	blood:
2	chr8:11280386..11282841-chr8:11298445..11301046,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10086412	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10094320	1.00[JPT][hapmap]
rs10104336	1.00[JPT][hapmap]
rs11774541	1.00[CHB][hapmap]
rs12156245	0.83[CHD][hapmap]
rs12156251	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs60580857	0.87[ASN][1000 genomes]
rs6601588	1.00[JPT][hapmap]
rs6985489	1.00[JPT][hapmap]
rs7003840	1.00[JPT][hapmap]
rs7350091	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	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
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2409764	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2409764	BLK	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
3	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:11273000-11287000	Weak transcription	NHEK	skin
5	chr8:11274000-11281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11274600-11281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11275600-11282200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:11275800-11281400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:11276600-11291200	Weak transcription	Gastric	stomach
10	chr8:11277600-11287000	Enhancers	Fetal Thymus	thymus
11	chr8:11279000-11281400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:11279000-11281600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:11279000-11282600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:11279800-11281600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:11279800-11281600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:11280000-11283800	Weak transcription	Thymus	Thymus
19	chr8:11280200-11281600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:11280200-11281600	Enhancers	K562	blood
21	chr8:11280200-11282400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:11280200-11283000	Enhancers	Brain Substantia Nigra	brain
23	chr8:11280200-11283400	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:11280400-11281400	Enhancers	Fetal Muscle Leg	muscle
25	chr8:11280400-11281800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:11280400-11282400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr8:11280400-11282400	Enhancers	Brain Angular Gyrus	brain
28	chr8:11280400-11282400	Enhancers	Brain Anterior Caudate	brain
29	chr8:11280400-11282600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr8:11280400-11283400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:11280400-11283800	Enhancers	Brain Hippocampus Middle	brain
32	chr8:11280600-11281400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:11280600-11281400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:11280600-11281400	Enhancers	GM12878-XiMat	blood
35	chr8:11280600-11281600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:11280600-11281800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:11280600-11282600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr8:11280600-11286000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
40	chr8:11280800-11282200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
42	chr8:11281000-11281400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr8:11281000-11281600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:11281000-11281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:11281000-11281600	Enhancers	A549	lung
46	chr8:11281200-11281400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr8:11281200-11281400	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr8:11281200-11281600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:11281200-11281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:11281200-11282400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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