Variant report

Variant	rs19334
Chromosome Location	chr8:9009906-9009907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:9009897-9010208	SH-SY5Y	brain:	n/a	chr8:9010081-9010097 chr8:9010083-9010095 chr8:9010106-9010113 chr8:9010083-9010090 chr8:9010075-9010092
2	MXI1	chr8:9006929-9010199	SK-N-SH	brain:	n/a	chr8:9009222-9009231
3	GATA1	chr8:9007842-9010696	PBDE	blood:	n/a	chr8:9010081-9010097 chr8:9010083-9010095 chr8:9010106-9010113 chr8:9010083-9010090 chr8:9010075-9010092

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:41464725..41467808-chr8:9007471..9010491,5	K562	blood:

Variant related genes	Relation type
PPP1R3B	TF binding region
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2929480	0.85[ASN][1000 genomes]
rs330929	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330930	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs330933	0.84[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs330936	0.91[EUR][1000 genomes]
rs330942	0.85[ASN][1000 genomes]
rs330945	0.85[ASN][1000 genomes]
rs330946	0.82[ASN][1000 genomes]
rs330947	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs19334	PPP1R3B	cis	lymphoblastoid	seeQTL
rs19334	PPP1R3B	cis	Liver	GTEx
rs19334	MSRA	cis	cerebellum	SCAN
rs19334	SGK223	cis	Thyroid	GTEx
rs19334	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs19334	RP1L1	cis	cerebellum	SCAN
rs19334	FLJ10661	cis	cerebellum	SCAN
rs19334	DEFB136	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9006400-9010000	Active TSS	Liver	Liver
2	chr8:9006400-9010800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:9008200-9012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:9008600-9010000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:9008600-9010000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:9008800-9010200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:9008800-9012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:9009000-9010200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr8:9009000-9010400	Active TSS	Fetal Intestine Large	intestine
10	chr8:9009000-9010800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:9009000-9016200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:9009000-9016800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:9009400-9010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:9009400-9010200	Weak transcription	Spleen	Spleen
15	chr8:9009400-9010400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:9009400-9010400	Weak transcription	Colonic Mucosa	Colon
17	chr8:9009400-9010400	Enhancers	Fetal Lung	lung
18	chr8:9009400-9010400	Active TSS	Fetal Muscle Trunk	muscle
19	chr8:9009400-9010400	Weak transcription	Small Intestine	intestine
20	chr8:9009400-9010800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:9009400-9017000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
23	chr8:9009600-9010000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:9009600-9010000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr8:9009600-9010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:9009600-9010000	Active TSS	Fetal Muscle Leg	muscle
27	chr8:9009600-9010000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:9009600-9010000	Enhancers	Hela-S3	cervix
29	chr8:9009600-9010200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr8:9009600-9010200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:9009600-9010200	Weak transcription	Right Ventricle	heart
32	chr8:9009600-9010200	Enhancers	GM12878-XiMat	blood
33	chr8:9009600-9010200	Weak transcription	HSMMtube	muscle
34	chr8:9009600-9010400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:9009600-9010400	Weak transcription	Left Ventricle	heart
36	chr8:9009600-9010400	Weak transcription	Stomach Mucosa	stomach
37	chr8:9009600-9010600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:9009600-9010600	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:9009600-9010600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr8:9009600-9010600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:9009600-9010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:9009600-9010600	Enhancers	HMEC	breast
43	chr8:9009600-9010800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:9009600-9010800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr8:9009600-9010800	Enhancers	K562	blood
46	chr8:9009800-9010000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:9009800-9010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:9009800-9010000	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr8:9009800-9010200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:9009800-9010200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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