Variant report

Variant	rs34606783
Chromosome Location	chr2:173490435-173490436
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	chr12:23952262..23953072-chr2:173490213..173490970,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12475825	1.00[ASN][1000 genomes]
rs12988039	1.00[ASN][1000 genomes]
rs12995721	1.00[ASN][1000 genomes]
rs13018866	1.00[ASN][1000 genomes]
rs13028638	1.00[ASN][1000 genomes]
rs34484409	1.00[ASN][1000 genomes]
rs35021798	1.00[ASN][1000 genomes]
rs35086654	1.00[ASN][1000 genomes]
rs35530693	1.00[ASN][1000 genomes]
rs4972842	1.00[ASN][1000 genomes]
rs71415299	1.00[ASN][1000 genomes]
rs71415300	1.00[ASN][1000 genomes]
rs71417407	0.86[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173461400-173504200	Weak transcription	NHEK	skin
2	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:173465600-173495200	Weak transcription	Ovary	ovary
4	chr2:173471800-173495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:173478800-173496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:173479600-173495800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:173479600-173496200	Weak transcription	Thymus	Thymus
10	chr2:173479800-173494600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:173479800-173496000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:173480000-173492200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:173480000-173493800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:173480000-173494200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:173480000-173495000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:173480000-173495200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:173480000-173496000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:173480200-173495800	Weak transcription	GM12878-XiMat	blood
19	chr2:173480200-173499200	Weak transcription	HepG2	liver
20	chr2:173485800-173497200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:173488800-173491800	Weak transcription	Aorta	Aorta
22	chr2:173488800-173494200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:173489200-173491400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:173489200-173492800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:173489200-173496200	Weak transcription	Fetal Thymus	thymus
26	chr2:173489200-173507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:173489400-173491800	Weak transcription	Primary B cells from cord blood	blood
28	chr2:173489400-173491800	Weak transcription	Primary T cells from cord blood	blood
29	chr2:173489400-173491800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173489400-173492600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:173489400-173494400	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:173489400-173500400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:173489400-173504200	Weak transcription	NHLF	lung
34	chr2:173489800-173491200	Weak transcription	Fetal Stomach	stomach
35	chr2:173490000-173492000	Weak transcription	Dnd41	blood
36	chr2:173490000-173493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:173490200-173500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:173490400-173497200	Weak transcription	HSMM	muscle

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