Variant report

Variant	rs330946
Chromosome Location	chr8:9022177-9022178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs19334	0.82[ASN][1000 genomes]
rs2929480	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330929	0.82[ASN][1000 genomes]
rs330930	0.83[ASN][1000 genomes]
rs330942	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330943	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs330944	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs330945	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330947	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs365309	0.87[EUR][1000 genomes]
rs378974	0.86[EUR][1000 genomes]
rs440932	0.87[EUR][1000 genomes]

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	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
9	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs330946	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
2	chr8:9019600-9022200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:9020600-9022600	Enhancers	Fetal Heart	heart
4	chr8:9020800-9022200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:9020800-9022200	Enhancers	Right Atrium	heart
6	chr8:9020800-9022400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:9020800-9022400	Enhancers	Left Ventricle	heart
8	chr8:9020800-9022400	Enhancers	Right Ventricle	heart
9	chr8:9020800-9022600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:9021000-9022400	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:9021000-9022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:9021000-9022400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:9021000-9022600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:9021000-9022600	Enhancers	Adipose Nuclei	Adipose
15	chr8:9021000-9027400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:9021200-9022200	Enhancers	HUVEC	blood vessel
17	chr8:9021200-9022400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:9021400-9022200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:9021400-9022200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:9021400-9022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:9021400-9022400	Enhancers	K562	blood
22	chr8:9021400-9023200	Enhancers	Psoas Muscle	Psoas
23	chr8:9021600-9022200	Enhancers	Spleen	Spleen
24	chr8:9021600-9022400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:9021600-9022400	Enhancers	Fetal Lung	lung
26	chr8:9021600-9022600	Enhancers	Liver	Liver
27	chr8:9022000-9022200	Enhancers	Fetal Intestine Large	intestine
28	chr8:9022000-9022400	Enhancers	Fetal Intestine Small	intestine

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