Variant report

Variant	rs10120
Chromosome Location	chr5:52394054-52394055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52392231..52395065-chr5:52398498..52400912,2	K562	blood:
2	chr5:52384559..52387537-chr5:52393582..52396762,3	MCF-7	breast:
3	chr5:52391585..52394108-chr5:52394132..52397970,3	K562	blood:
4	chr5:52391291..52394442-chr5:52402494..52406194,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164172	Chromatin interaction
ENSG00000272123	Chromatin interaction
ENSG00000247796	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10054155	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2233210	1.00[CHB][hapmap]
rs2233217	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs3212521	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3212557	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:52341200-52396400	Strong transcription	HMEC	breast
3	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
5	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:52365800-52394800	Weak transcription	Right Ventricle	heart
7	chr5:52370400-52394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
9	chr5:52372000-52394800	Weak transcription	Colonic Mucosa	Colon
10	chr5:52372000-52394800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:52372200-52394800	Weak transcription	Gastric	stomach
12	chr5:52372200-52394800	Weak transcription	Pancreas	Pancrea
13	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:52381200-52394200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:52382800-52395000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:52383000-52394800	Weak transcription	Brain Anterior Caudate	brain
18	chr5:52383200-52394800	Weak transcription	Esophagus	oesophagus
19	chr5:52383200-52394800	Weak transcription	Spleen	Spleen
20	chr5:52383800-52395000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:52384000-52394600	Weak transcription	Brain Angular Gyrus	brain
22	chr5:52384000-52394800	Weak transcription	Brain Substantia Nigra	brain
23	chr5:52384000-52395200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:52384200-52394800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:52385800-52394600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:52385800-52395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:52386200-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:52386400-52394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:52386400-52394800	Weak transcription	GM12878-XiMat	blood
30	chr5:52386600-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:52387400-52394800	Weak transcription	Fetal Brain Male	brain
32	chr5:52387600-52394800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:52388000-52394200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:52388000-52394800	Weak transcription	Ovary	ovary
36	chr5:52388000-52395000	Weak transcription	Lung	lung
37	chr5:52388200-52394200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:52388200-52398400	Strong transcription	HUVEC	blood vessel
39	chr5:52388400-52396200	Weak transcription	Hela-S3	cervix
40	chr5:52389400-52404800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:52389600-52395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:52389800-52394800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:52390000-52397600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:52390200-52403800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:52390600-52394200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:52390600-52394600	Weak transcription	Fetal Thymus	thymus
47	chr5:52390600-52396200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:52390600-52397200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:52390600-52399600	Strong transcription	NHEK	skin
50	chr5:52390600-52401200	Strong transcription	Dnd41	blood

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