Variant report

Variant	rs330928
Chromosome Location	chr8:9002545-9002546
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	chr8:9001231..9005800-chr8:9006858..9010359,5	K562	blood:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction
ENSG00000253426	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10094531	0.84[EUR][1000 genomes]
rs10109832	0.82[EUR][1000 genomes]
rs10111820	0.84[EUR][1000 genomes]
rs12334460	0.83[EUR][1000 genomes]
rs12334631	0.83[EUR][1000 genomes]
rs1445493	0.84[EUR][1000 genomes]
rs7008494	0.87[EUR][1000 genomes]
rs7840818	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs330928	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs330928	RP11-10A14.5	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8993600-9005400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:8994200-9005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
5	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
7	chr8:8994400-9005200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:8994400-9005200	Weak transcription	Small Intestine	intestine
9	chr8:8995200-9004800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:8997000-9004800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:8998000-9004200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:8998400-9005600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:8998600-9003400	Weak transcription	Psoas Muscle	Psoas
14	chr8:8998600-9003800	Strong transcription	Fetal Intestine Small	intestine
15	chr8:8998600-9007200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:8998800-9003400	Weak transcription	Right Atrium	heart
17	chr8:8998800-9004600	Weak transcription	Stomach Mucosa	stomach
18	chr8:8998800-9005000	Weak transcription	Esophagus	oesophagus
19	chr8:8998800-9005000	Weak transcription	A549	lung
20	chr8:8998800-9005400	Weak transcription	NHEK	skin
21	chr8:8998800-9007000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:8998800-9007200	Weak transcription	Fetal Kidney	kidney
23	chr8:8998800-9007200	Weak transcription	Fetal Thymus	thymus
24	chr8:8999000-9003800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:8999000-9004800	Weak transcription	K562	blood
26	chr8:8999000-9005200	Weak transcription	GM12878-XiMat	blood
27	chr8:8999000-9005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:8999000-9007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:8999000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:8999200-9003200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:8999200-9003400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:8999200-9003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:8999200-9003800	Weak transcription	Lung	lung
34	chr8:8999200-9003800	Weak transcription	Pancreas	Pancrea
35	chr8:8999200-9004200	Weak transcription	Primary B cells from cord blood	blood
36	chr8:8999200-9004800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:8999200-9004800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:8999200-9004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:8999200-9004800	Weak transcription	Right Ventricle	heart
40	chr8:8999200-9004800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:8999200-9004800	Weak transcription	NHDF-Ad	bronchial
42	chr8:8999200-9005000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:8999200-9005000	Weak transcription	Colonic Mucosa	Colon
44	chr8:8999200-9005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:8999200-9005200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:8999200-9005200	Weak transcription	NHLF	lung
47	chr8:8999200-9005400	Weak transcription	Brain Anterior Caudate	brain
48	chr8:8999200-9005400	Weak transcription	HSMMtube	muscle
49	chr8:8999200-9007000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:8999200-9007000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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