Variant report

Variant	rs12518145
Chromosome Location	chr5:52391850-52391851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52244011..52244957-chr5:52391475..52392472,7	K562	blood:
2	chr5:52391585..52394108-chr5:52394132..52397970,3	K562	blood:
3	chr5:52391291..52394442-chr5:52402494..52406194,4	MCF-7	breast:
4	chr5:52244476..52245215-chr5:52391489..52392462,3	MCF-7	breast:
5	chr5:52244044..52244891-chr5:52391492..52392380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164172	Chromatin interaction
ENSG00000247796	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12515434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12520591	1.00[YRI][hapmap]
rs1445937	1.00[YRI][hapmap]
rs16880493	1.00[YRI][hapmap]
rs16880627	1.00[YRI][hapmap]
rs2279586	1.00[YRI][hapmap]
rs2279587	1.00[YRI][hapmap]
rs2302960	1.00[YRI][hapmap]
rs3212484	0.86[AFR][1000 genomes]
rs3212488	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145748	1.00[YRI][hapmap]
rs62359375	1.00[ASN][1000 genomes]
rs62359376	1.00[ASN][1000 genomes]
rs6867926	1.00[YRI][hapmap]
rs7701575	1.00[YRI][hapmap]
rs9637769	1.00[YRI][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:52341200-52396400	Strong transcription	HMEC	breast
4	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
6	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
7	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
9	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
10	chr5:52365800-52394800	Weak transcription	Right Ventricle	heart
11	chr5:52369000-52392800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:52370400-52394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
14	chr5:52372000-52394800	Weak transcription	Colonic Mucosa	Colon
15	chr5:52372000-52394800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:52372200-52392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:52372200-52394800	Weak transcription	Gastric	stomach
18	chr5:52372200-52394800	Weak transcription	Pancreas	Pancrea
19	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:52374200-52392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:52381200-52394200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr5:52382800-52395000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:52383000-52393000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:52383000-52394800	Weak transcription	Brain Anterior Caudate	brain
26	chr5:52383200-52394800	Weak transcription	Esophagus	oesophagus
27	chr5:52383200-52394800	Weak transcription	Spleen	Spleen
28	chr5:52383800-52392200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:52383800-52392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:52383800-52395000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:52384000-52394600	Weak transcription	Brain Angular Gyrus	brain
32	chr5:52384000-52394800	Weak transcription	Brain Substantia Nigra	brain
33	chr5:52384000-52395200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:52384200-52394800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:52384400-52392800	Weak transcription	Fetal Intestine Small	intestine
36	chr5:52385800-52392200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:52385800-52392400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:52385800-52394000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:52385800-52394600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:52385800-52395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:52386000-52392600	Weak transcription	Primary T cells from cord blood	blood
42	chr5:52386000-52392800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:52386000-52392800	Weak transcription	Thymus	Thymus
44	chr5:52386200-52392400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:52386200-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:52386400-52392400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:52386400-52392400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:52386400-52394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:52386400-52394800	Weak transcription	GM12878-XiMat	blood
50	chr5:52386600-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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