Variant report

Variant	rs330942
Chromosome Location	chr8:9020439-9020440
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9019289..9020816-chr8:9034682..9036513,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs19334	0.82[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs2929480	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330929	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs330930	0.86[ASN][1000 genomes]
rs330943	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330944	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs330945	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330946	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330947	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365309	0.86[EUR][1000 genomes]
rs378974	0.85[EUR][1000 genomes]
rs440932	0.86[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs330942	MFHAS1	cis	cerebellum	SCAN
rs330942	RP1L1	cis	cerebellum	SCAN
rs330942	DEFB135	cis	parietal	SCAN
rs330942	DEFB136	cis	parietal	SCAN
rs330942	DEFB134	cis	cerebellum	SCAN
rs330942	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs330942	PPP1R3B	cis	lymphoblastoid	seeQTL
rs330942	CTSB	cis	parietal	SCAN

Chromatin state (count:22 , 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	chr8:9015600-9020800	Weak transcription	Psoas Muscle	Psoas
5	chr8:9016200-9020800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:9016200-9021000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:9016200-9021200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:9016200-9021400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:9016400-9021600	Weak transcription	Fetal Lung	lung
10	chr8:9017400-9020800	Weak transcription	Left Ventricle	heart
11	chr8:9017400-9021000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:9017400-9022000	Weak transcription	Fetal Intestine Small	intestine
13	chr8:9017600-9020800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:9017600-9020800	Weak transcription	Right Atrium	heart
15	chr8:9018600-9020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:9018600-9021000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:9019000-9021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:9019000-9021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:9019200-9020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:9019200-9021200	Weak transcription	HUVEC	blood vessel
21	chr8:9019600-9022200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:9020400-9021000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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