Variant report

Variant	rs16850570
Chromosome Location	chr2:235078279-235078280
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	chr2:235043269..235045839-chr2:235077105..235078975,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174012	1.00[EUR][1000 genomes]
rs10177507	1.00[EUR][1000 genomes]
rs11563058	1.00[MEX][hapmap]
rs11563207	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28903676	1.00[EUR][1000 genomes]
rs28903677	1.00[EUR][1000 genomes]
rs28903679	1.00[EUR][1000 genomes]
rs28903686	1.00[EUR][1000 genomes]
rs28903693	1.00[EUR][1000 genomes]
rs28903971	1.00[EUR][1000 genomes]
rs28903987	1.00[EUR][1000 genomes]
rs28903992	1.00[EUR][1000 genomes]
rs28903998	1.00[EUR][1000 genomes]
rs28904021	1.00[EUR][1000 genomes]
rs28948682	1.00[EUR][1000 genomes]
rs73113209	1.00[EUR][1000 genomes]
rs73124598	1.00[EUR][1000 genomes]
rs73124600	1.00[EUR][1000 genomes]
rs73124601	1.00[EUR][1000 genomes]
rs73999215	1.00[EUR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235073400-235080000	Weak transcription	Spleen	Spleen
2	chr2:235076600-235078400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:235076600-235078400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:235076800-235078600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:235077000-235078400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:235077000-235078400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:235077000-235078600	Enhancers	Fetal Intestine Small	intestine
8	chr2:235077000-235078600	Enhancers	NHEK	skin
9	chr2:235077000-235079000	Enhancers	Placenta	Placenta
10	chr2:235077400-235078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:235077600-235078400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:235077600-235078600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:235077600-235078600	Flanking Active TSS	A549	lung
14	chr2:235077600-235078800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:235077600-235078800	Enhancers	Fetal Heart	heart
16	chr2:235077600-235078800	Enhancers	HSMMtube	muscle
17	chr2:235077800-235078400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:235077800-235078400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:235077800-235078600	Enhancers	Fetal Intestine Large	intestine
20	chr2:235077800-235078600	Enhancers	NH-A	brain
21	chr2:235077800-235078600	Enhancers	Osteobl	bone
22	chr2:235077800-235078800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:235077800-235078800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:235077800-235078800	Enhancers	Fetal Lung	lung
25	chr2:235077800-235078800	Enhancers	HMEC	breast
26	chr2:235077800-235078800	Enhancers	HSMM	muscle
27	chr2:235077800-235079000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:235078000-235078400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:235078000-235078400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:235078000-235078400	Enhancers	Fetal Kidney	kidney
31	chr2:235078000-235078600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:235078000-235078600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:235078000-235078600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:235078000-235078600	Enhancers	HUVEC	blood vessel
35	chr2:235078200-235078600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:235078200-235078800	Enhancers	Dnd41	blood
37	chr2:235078200-235079000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:235078200-235083200	Weak transcription	Hela-S3	cervix

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