Variant report

Variant	rs9596127
Chromosome Location	chr13:50088133-50088134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50086064..50088335-chr13:50090580..50092913,2	K562	blood:
2	chr13:50087217..50089138-chr13:50160277..50162233,2	MCF-7	breast:
3	chr13:50072605..50075983-chr13:50085931..50088388,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12429621	0.88[TSI][hapmap]
rs17072932	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs17072933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17073175	0.88[TSI][hapmap]
rs55788913	1.00[EUR][1000 genomes]
rs60723161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67216195	0.90[ASN][1000 genomes]
rs7318481	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs73188685	0.83[ASN][1000 genomes]
rs73188686	0.90[ASN][1000 genomes]
rs7324615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7324805	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7358961	0.81[ASN][1000 genomes]
rs7990424	0.90[ASN][1000 genomes]
rs7994710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316456	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9591262	0.81[ASN][1000 genomes]
rs9591264	0.90[ASN][1000 genomes]
rs9591288	1.00[JPT][hapmap]
rs9596107	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9596108	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs9596110	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs9596111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9596112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9596116	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50070200-50089200	Weak transcription	Fetal Brain Male	brain
2	chr13:50070800-50088200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:50070800-50088200	Weak transcription	Brain Substantia Nigra	brain
4	chr13:50070800-50095600	Weak transcription	Fetal Kidney	kidney
5	chr13:50071000-50093400	Weak transcription	HepG2	liver
6	chr13:50074000-50093000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:50075000-50088200	Weak transcription	HMEC	breast
8	chr13:50075000-50102400	Weak transcription	NH-A	brain
9	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
10	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:50080000-50092000	Weak transcription	NHDF-Ad	bronchial
12	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:50080600-50098000	Strong transcription	Primary B cells from cord blood	blood
15	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr13:50082200-50096200	Weak transcription	HUVEC	blood vessel
18	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood
20	chr13:50084000-50091600	Strong transcription	Adipose Nuclei	Adipose
21	chr13:50084000-50104800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr13:50084800-50090600	Weak transcription	Fetal Heart	heart
23	chr13:50084800-50104200	Strong transcription	GM12878-XiMat	blood
24	chr13:50085000-50098200	Strong transcription	Dnd41	blood
25	chr13:50085000-50099600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:50085400-50104800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:50085800-50099000	Weak transcription	Hela-S3	cervix
28	chr13:50086200-50090400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr13:50086400-50090400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:50086400-50090400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:50086400-50096200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:50086400-50097200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
34	chr13:50086600-50090200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr13:50086600-50090400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:50086600-50091400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:50086600-50098400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:50086600-50101600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:50086600-50103200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:50086600-50106200	Strong transcription	Fetal Thymus	thymus
41	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
43	chr13:50086800-50088600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:50086800-50090000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:50086800-50090000	Strong transcription	Ovary	ovary
46	chr13:50086800-50090800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:50086800-50091200	Strong transcription	Fetal Stomach	stomach
48	chr13:50086800-50091600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:50086800-50091600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr13:50086800-50091800	Strong transcription	Fetal Intestine Large	intestine

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