Variant report

Variant	rs8112640
Chromosome Location	chr19:36555184-36555185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36553866..36556198-chr19:36583468..36585180,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1009381	0.81[ASN][1000 genomes]
rs10406862	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419924	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10420345	0.85[ASN][1000 genomes]
rs10422055	0.83[ASN][1000 genomes]
rs10425700	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10427033	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11538454	0.95[ASN][1000 genomes]
rs11666192	0.89[ASN][1000 genomes]
rs11669890	0.94[ASN][1000 genomes]
rs12608517	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023866	0.84[ASN][1000 genomes]
rs2074435	0.81[ASN][1000 genomes]
rs2075472	0.89[ASN][1000 genomes]
rs2141959	0.82[ASN][1000 genomes]
rs2301734	0.93[ASN][1000 genomes]
rs2301737	0.91[ASN][1000 genomes]
rs2871649	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4555271	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4806249	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4806254	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4806262	0.85[ASN][1000 genomes]
rs4806271	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806273	0.81[ASN][1000 genomes]
rs4806276	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55849299	0.93[ASN][1000 genomes]
rs7250364	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7251912	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7258807	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73036134	0.88[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	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36546400-36577600	Weak transcription	Esophagus	oesophagus
2	chr19:36546400-36584000	Weak transcription	Right Atrium	heart
3	chr19:36546600-36556600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:36546600-36556800	Weak transcription	Spleen	Spleen
5	chr19:36546600-36557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:36546600-36572400	Weak transcription	Lung	lung
7	chr19:36546600-36602200	Weak transcription	Colonic Mucosa	Colon
8	chr19:36546600-36604800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:36546800-36557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:36546800-36572000	Weak transcription	Primary T cells from cord blood	blood
11	chr19:36546800-36572800	Weak transcription	Primary B cells from cord blood	blood
12	chr19:36546800-36572800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:36546800-36580200	Weak transcription	Fetal Kidney	kidney
14	chr19:36546800-36588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:36546800-36592200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:36546800-36601400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:36547000-36561200	Weak transcription	NH-A	brain
18	chr19:36547200-36557600	Weak transcription	Placenta	Placenta
19	chr19:36547400-36561200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:36547400-36562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:36547600-36555800	Weak transcription	HMEC	breast
22	chr19:36547600-36559200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36547600-36559200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:36547600-36584200	Weak transcription	Fetal Heart	heart
25	chr19:36547800-36555800	Weak transcription	NHDF-Ad	bronchial
26	chr19:36548000-36559200	Strong transcription	Fetal Thymus	thymus
27	chr19:36548200-36596400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr19:36548400-36559200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:36548400-36559200	Strong transcription	A549	lung
30	chr19:36548400-36571000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:36548600-36559400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:36548600-36560800	Weak transcription	HUVEC	blood vessel
33	chr19:36548800-36559200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr19:36548800-36560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:36548800-36567800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:36549200-36559400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:36549200-36559400	Strong transcription	Fetal Stomach	stomach
38	chr19:36549400-36558800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36549400-36558800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:36549400-36559200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:36549400-36559200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:36549400-36559200	Strong transcription	Thymus	Thymus
43	chr19:36549400-36559400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:36549400-36560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:36549600-36559200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:36549600-36559400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:36549600-36566600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:36549600-36567200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:36549800-36558600	Weak transcription	Gastric	stomach
50	chr19:36550200-36559800	Strong transcription	Dnd41	blood

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