Variant report

Variant	rs34513284
Chromosome Location	chr2:233916965-233916966
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233914078..233917204-chr2:233917220..233919359,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10211511	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694923	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13017176	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017623	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391656	0.82[ASN][1000 genomes]
rs13392069	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401226	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13408428	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13408980	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2344913	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28574597	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177313	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34383725	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34779565	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35213087	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237010	0.82[ASN][1000 genomes]
rs35487055	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073603	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405750	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439944	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56279626	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194574	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759511	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917223	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917354	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917366	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917368	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233914200-233918600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:233914200-233919200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:233914400-233918600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:233914400-233918800	Weak transcription	HMEC	breast
5	chr2:233914400-233926600	Weak transcription	HSMMtube	muscle
6	chr2:233914600-233918400	Weak transcription	Fetal Thymus	thymus
7	chr2:233914600-233919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:233914800-233918600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:233915000-233918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:233915000-233918600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:233915600-233917200	Enhancers	NHEK	skin
12	chr2:233915800-233917200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:233916000-233917000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:233916000-233917000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:233916000-233917000	Enhancers	K562	blood
16	chr2:233916200-233917000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:233916200-233917000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:233916200-233917000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:233916200-233917000	Enhancers	HUVEC	blood vessel
20	chr2:233916200-233917000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:233916200-233917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:233916200-233917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:233916400-233917000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:233916600-233917000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:233916600-233917000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:233916600-233917200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:233916600-233918200	Weak transcription	Spleen	Spleen
28	chr2:233916600-233918600	Weak transcription	Lung	lung
29	chr2:233916600-233919200	Weak transcription	Osteobl	bone
30	chr2:233916600-233924000	Weak transcription	Esophagus	oesophagus
31	chr2:233916600-233924000	Weak transcription	Right Atrium	heart
32	chr2:233916600-233924600	Weak transcription	Pancreas	Pancrea
33	chr2:233916800-233917200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:233916800-233917200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:233916800-233917200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:233916800-233917200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:233916800-233917200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:233916800-233917200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:233916800-233919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:233916800-233919000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:233916800-233919200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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