Variant report

Variant	rs7519019
Chromosome Location	chr1:185038104-185038105
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	chr1:185035986..185038971-chr1:185111907..185115590,3	MCF-7	breast:
2	chr1:185036165..185039071-chr1:185043349..185046105,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1046592	0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap]
rs10489580	0.81[JPT][hapmap]
rs10737256	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.90[ASN][1000 genomes]
rs10752945	0.88[ASN][1000 genomes]
rs10797998	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs10797999	0.96[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10911678	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10911680	0.92[ASN][1000 genomes]
rs11588646	0.91[ASN][1000 genomes]
rs12025737	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12030554	0.81[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12081098	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12086086	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs12404644	0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs12566975	0.91[ASN][1000 genomes]
rs1322646	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap];0.92[ASN][1000 genomes]
rs1407555	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1407556	0.90[ASN][1000 genomes]
rs1407557	0.91[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs1544052	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs1591585	0.81[JPT][hapmap]
rs1884447	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.99[ASN][1000 genomes]
rs2057222	0.83[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2146329	0.95[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs3753569	0.91[ASN][1000 genomes]
rs4549995	0.92[ASN][1000 genomes]
rs6424971	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6660169	0.81[JPT][hapmap]
rs6673303	0.81[JPT][hapmap]
rs6674490	0.83[ASW][hapmap];0.81[GIH][hapmap]
rs6684586	0.84[GIH][hapmap]
rs6700484	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7533198	0.86[JPT][hapmap]
rs7547420	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:185017400-185042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:185018400-185043000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:185018400-185043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
10	chr1:185020400-185039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:185020600-185040200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:185024200-185044000	Weak transcription	Fetal Stomach	stomach
14	chr1:185024200-185056600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:185027200-185056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:185027200-185056400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:185027400-185040000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:185027600-185039000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:185028200-185039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:185028800-185038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:185028800-185043400	Weak transcription	Small Intestine	intestine
23	chr1:185029600-185042600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:185030200-185041200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:185030200-185076600	Weak transcription	Gastric	stomach
26	chr1:185031200-185044000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:185031200-185044400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:185032200-185057800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:185032400-185038200	Weak transcription	HepG2	liver
30	chr1:185032400-185041000	Weak transcription	Liver	Liver
31	chr1:185032400-185042400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:185032400-185044000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:185032600-185039600	Weak transcription	Primary B cells from cord blood	blood
34	chr1:185032800-185056600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:185033000-185040400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:185033200-185040400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:185033200-185044000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:185033800-185038800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:185034200-185039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:185034200-185043400	Weak transcription	A549	lung
41	chr1:185034400-185044000	Weak transcription	Fetal Intestine Small	intestine
42	chr1:185034800-185044600	Weak transcription	Lung	lung
43	chr1:185034800-185057400	Weak transcription	Fetal Brain Female	brain
44	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:185035000-185039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:185035000-185040400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:185035000-185044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:185035000-185056600	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:185035000-185058000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:185035200-185038800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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