Variant report

Variant	rs330944
Chromosome Location	chr8:9021293-9021294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs19334	0.80[GIH][hapmap];0.87[MEX][hapmap]
rs2929480	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330929	0.81[CEU][hapmap]
rs330942	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330943	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330945	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330946	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs330947	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs365309	0.82[EUR][1000 genomes]
rs378974	0.82[EUR][1000 genomes]
rs440932	0.82[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs330944	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs330944	FLJ10661	cis	cerebellum	SCAN
rs330944	DEFB134	cis	cerebellum	SCAN
rs330944	MFHAS1	cis	cerebellum	SCAN
rs330944	DEFB136	cis	parietal	SCAN
rs330944	WIBG	trans	cerebellum	SCAN
rs330944	RP1L1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
2	chr8:9012400-9022000	Weak transcription	Fetal Intestine Large	intestine
3	chr8:9014200-9021600	Weak transcription	Liver	Liver
4	chr8:9016200-9021400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:9016400-9021600	Weak transcription	Fetal Lung	lung
6	chr8:9017400-9022000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:9019000-9021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:9019600-9022200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:9020600-9022600	Enhancers	Fetal Heart	heart
10	chr8:9020800-9022200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:9020800-9022200	Enhancers	Right Atrium	heart
12	chr8:9020800-9022400	Enhancers	Fetal Muscle Trunk	muscle
13	chr8:9020800-9022400	Enhancers	Left Ventricle	heart
14	chr8:9020800-9022400	Enhancers	Right Ventricle	heart
15	chr8:9020800-9022600	Enhancers	Fetal Muscle Leg	muscle
16	chr8:9021000-9021400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:9021000-9021400	Weak transcription	Psoas Muscle	Psoas
18	chr8:9021000-9022400	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:9021000-9022400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:9021000-9022400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:9021000-9022600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:9021000-9022600	Enhancers	Adipose Nuclei	Adipose
23	chr8:9021000-9027400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:9021200-9022200	Enhancers	HUVEC	blood vessel
25	chr8:9021200-9022400	Enhancers	Skeletal Muscle Female	skeletal muscle

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