Variant report

Variant	rs8159
Chromosome Location	chr1:227174902-227174903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227173495-227175725	K562	blood:	n/a	n/a
2	FOSL2	chr1:227174816-227175199	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:227171755-227176557	K562	blood:	n/a	n/a
4	POLR2A	chr1:227174808-227176568	HL-60	blood:	n/a	n/a
5	POLR2A	chr1:227174872-227174954	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr1:227170173-227176506	K562	blood:	n/a	n/a
7	POLR2A	chr1:227167761-227175221	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:227174574-227174992	HCT-116	colon:	n/a	n/a
9	POLR2A	chr1:227172012-227175716	K562	blood:	n/a	n/a
10	POLR2A	chr1:227169948-227179599	K562	blood:	n/a	n/a
11	POLR2A	chr1:227174901-227174934	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:227174506-227175177	K562	blood:	n/a	n/a
13	POLR2A	chr1:227170107-227176585	K562	blood:	n/a	n/a
14	POLR2A	chr1:227174148-227176843	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227165601..227167978-chr1:227173311..227176266,3	MCF-7	breast:
2	chr1:227154071..227157064-chr1:227173659..227175478,2	MCF-7	breast:
3	chr1:227128683..227130385-chr1:227174300..227176049,2	MCF-7	breast:
4	chr1:227173653..227176046-chr1:227186826..227189560,2	MCF-7	breast:
5	chr1:227173983..227176329-chr1:227192052..227193578,2	MCF-7	breast:
6	chr1:227126152..227130822-chr1:227174735..227178540,5	MCF-7	breast:
7	chr1:227168074..227172579-chr1:227173053..227177156,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233706	TF binding region
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10916076	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12024326	0.81[ASW][hapmap]
rs3795454	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3818694	0.87[ASW][hapmap];0.96[GIH][hapmap];0.82[YRI][hapmap]
rs4653474	0.87[ASW][hapmap];0.82[YRI][hapmap]
rs4653475	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6674912	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9659907	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8159	PRSS38	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
4	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
8	chr1:227160600-227175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:227160800-227181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:227162200-227176000	Strong transcription	Primary T cells from cord blood	blood
11	chr1:227162400-227175200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:227162400-227181600	Weak transcription	NHEK	skin
13	chr1:227162600-227175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:227162600-227176600	Strong transcription	Thymus	Thymus
15	chr1:227163000-227180000	Weak transcription	HSMM	muscle
16	chr1:227163200-227175400	Strong transcription	Fetal Intestine Small	intestine
17	chr1:227163400-227191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:227163800-227176200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:227163800-227180400	Weak transcription	Fetal Brain Male	brain
20	chr1:227164200-227175800	Strong transcription	HepG2	liver
21	chr1:227164400-227175600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:227164600-227175000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:227164800-227175200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:227165000-227175000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:227165000-227175400	Genic enhancers	Right Ventricle	heart
26	chr1:227165000-227176000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:227165200-227175000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:227165400-227175800	Strong transcription	Ovary	ovary
29	chr1:227167000-227175200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:227168800-227175400	Weak transcription	Psoas Muscle	Psoas
31	chr1:227168800-227175600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:227168800-227175600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:227169000-227175000	Strong transcription	Adipose Nuclei	Adipose
34	chr1:227169200-227175400	Strong transcription	Fetal Thymus	thymus
35	chr1:227169400-227175000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:227169400-227175200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:227169600-227175000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:227169600-227175000	Strong transcription	Gastric	stomach
39	chr1:227169600-227175800	Strong transcription	Liver	Liver
40	chr1:227169800-227175000	Strong transcription	Fetal Intestine Large	intestine
41	chr1:227169800-227175800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:227170000-227175000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:227170000-227176000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:227170200-227175400	Strong transcription	Colon Smooth Muscle	Colon
45	chr1:227170400-227176200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:227170400-227176400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:227170400-227177600	Strong transcription	Fetal Brain Female	brain
48	chr1:227170600-227177600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:227170800-227176200	Genic enhancers	Left Ventricle	heart
50	chr1:227171000-227175000	Enhancers	Right Atrium	heart

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