Variant report

Variant	rs9819608
Chromosome Location	chr3:53047213-53047214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs2001734	1.00[CHB][hapmap]
rs2256734	1.00[CHB][hapmap]
rs2276820	1.00[CHB][hapmap]
rs2276822	1.00[CHB][hapmap]
rs2336155	1.00[CHB][hapmap]
rs2336559	1.00[CHB][hapmap]
rs2535619	1.00[CHB][hapmap]
rs2535632	1.00[CHB][hapmap]
rs2535637	1.00[CHB][hapmap]
rs2710324	1.00[CHB][hapmap]
rs28696085	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28719645	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2878633	1.00[CHB][hapmap]
rs3806693	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4687665	1.00[CHB][hapmap]
rs55794978	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55885034	1.00[ASN][1000 genomes]
rs56835905	1.00[ASN][1000 genomes]
rs57940327	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58309671	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840385	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59224641	1.00[ASN][1000 genomes]
rs59515578	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60648378	1.00[ASN][1000 genomes]
rs60744886	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61285888	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61437303	1.00[ASN][1000 genomes]
rs61438885	1.00[ASN][1000 genomes]
rs6774869	1.00[CHB][hapmap]
rs72965345	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965350	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965354	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965361	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965362	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72965366	1.00[ASN][1000 genomes]
rs72965381	0.84[ASN][1000 genomes]
rs7628501	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7631487	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7637212	1.00[CHB][hapmap]
rs9681089	1.00[CHB][hapmap]
rs9822686	1.00[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9852646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv3823	chr3:53003659-53051063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv876799	chr3:53024216-53060637	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv437713	chr3:53026714-53055522	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv590320	chr3:53027983-53055842	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv590321	chr3:53027983-53062661	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1000733	chr3:53031724-53053645	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2489889	chr3:53045787-53048331	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1823728	chr3:53046712-53080351	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv13007	chr3:53046737-53047530	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:53020600-53057000	Weak transcription	Dnd41	blood
4	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:53025600-53061600	Weak transcription	Lung	lung
6	chr3:53027600-53061600	Weak transcription	Liver	Liver
7	chr3:53027800-53051000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:53030200-53059400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:53030400-53052400	Weak transcription	Primary T cells from cord blood	blood
10	chr3:53030800-53050400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:53032800-53051600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:53033000-53078400	Weak transcription	Aorta	Aorta
13	chr3:53033200-53057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:53033600-53056200	Weak transcription	Fetal Stomach	stomach
15	chr3:53033800-53052800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:53033800-53053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:53033800-53060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:53033800-53065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:53037000-53065000	Weak transcription	Fetal Intestine Small	intestine
20	chr3:53040800-53065000	Weak transcription	Fetal Intestine Large	intestine
21	chr3:53041400-53053600	Weak transcription	Fetal Thymus	thymus
22	chr3:53043800-53064800	Weak transcription	Stomach Mucosa	stomach
23	chr3:53044400-53050400	Weak transcription	A549	lung
24	chr3:53044400-53052400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:53044400-53056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:53044600-53048800	Weak transcription	Pancreas	Pancrea
27	chr3:53044600-53050200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:53044600-53051200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:53044600-53055600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:53044600-53065000	Weak transcription	Gastric	stomach
31	chr3:53045000-53050400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:53045200-53049800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:53045200-53050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:53045200-53050200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:53045200-53061400	Weak transcription	Fetal Heart	heart
36	chr3:53045400-53049600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:53045400-53050200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:53045400-53052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:53045400-53057200	Weak transcription	Psoas Muscle	Psoas
40	chr3:53045400-53061600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:53045600-53050600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:53045600-53052400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:53045600-53057000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:53045600-53057600	Weak transcription	Left Ventricle	heart
45	chr3:53045800-53050400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:53045800-53061400	Weak transcription	HepG2	liver
47	chr3:53046000-53051800	Weak transcription	GM12878-XiMat	blood
48	chr3:53046000-53052400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:53046000-53057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:53046200-53052600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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