Variant report

Variant	rs73756617
Chromosome Location	chr5:52392759-52392760
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	chr5:52391585..52394108-chr5:52394132..52397970,3	K562	blood:
3	chr5:52391291..52394442-chr5:52402494..52406194,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247796	Chromatin interaction
ENSG00000164172	Chromatin interaction

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

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

rs_ID	r²[population]
rs153682	1.00[AMR][1000 genomes]
rs30723	1.00[AMR][1000 genomes]
rs3212410	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212500	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212511	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59603945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:119 , 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	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
5	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
6	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
8	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
9	chr5:52365800-52394800	Weak transcription	Right Ventricle	heart
10	chr5:52369000-52392800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:52370400-52394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
13	chr5:52372000-52394800	Weak transcription	Colonic Mucosa	Colon
14	chr5:52372000-52394800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:52372200-52392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:52372200-52394800	Weak transcription	Gastric	stomach
17	chr5:52372200-52394800	Weak transcription	Pancreas	Pancrea
18	chr5:52372400-52404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:52374200-52392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:52381200-52394200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:52382800-52395000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:52383000-52393000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:52383000-52394800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:52383200-52394800	Weak transcription	Esophagus	oesophagus
26	chr5:52383200-52394800	Weak transcription	Spleen	Spleen
27	chr5:52383800-52392800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:52383800-52395000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:52384000-52394600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:52384000-52394800	Weak transcription	Brain Substantia Nigra	brain
31	chr5:52384000-52395200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:52384200-52394800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:52384400-52392800	Weak transcription	Fetal Intestine Small	intestine
34	chr5:52385800-52394000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:52385800-52394600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:52385800-52395800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:52386000-52392800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:52386000-52392800	Weak transcription	Thymus	Thymus
39	chr5:52386200-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:52386400-52394800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:52386400-52394800	Weak transcription	GM12878-XiMat	blood
42	chr5:52386600-52394800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:52387200-52392800	Weak transcription	Aorta	Aorta
44	chr5:52387400-52394800	Weak transcription	Fetal Brain Male	brain
45	chr5:52387600-52392800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:52387600-52392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:52387600-52392800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:52387600-52392800	Weak transcription	Fetal Stomach	stomach
49	chr5:52387600-52392800	Weak transcription	HSMMtube	muscle
50	chr5:52387600-52393200	Weak transcription	NHDF-Ad	bronchial

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