Variant report

Variant	rs62400362
Chromosome Location	chr6:45462487-45462488
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	chr6:45460390..45461944-chr6:45462415..45465086,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62400365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914610	0.87[EUR][1000 genomes]
rs73737440	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7750266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750470	0.97[EUR][1000 genomes]
rs7754227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773875	0.98[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45445000-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:45448400-45472000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:45448800-45468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:45449000-45462800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:45449000-45472600	Weak transcription	NHEK	skin
6	chr6:45452000-45472600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:45454000-45471800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:45455600-45467200	Strong transcription	HSMM	muscle
9	chr6:45457800-45466800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:45458000-45469800	Weak transcription	Hela-S3	cervix
11	chr6:45459400-45472600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:45459600-45462600	Strong transcription	Osteobl	bone
13	chr6:45459800-45466600	Weak transcription	Lung	lung
14	chr6:45459800-45467000	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr6:45460000-45462800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:45460000-45466600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:45460000-45466800	Weak transcription	Small Intestine	intestine
18	chr6:45460000-45468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:45460400-45462600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:45460800-45466800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:45461000-45463600	Enhancers	Primary T cells from cord blood	blood
22	chr6:45461000-45463600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:45461200-45463000	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:45461200-45466400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:45461200-45480000	Weak transcription	NHDF-Ad	bronchial
26	chr6:45461600-45465000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:45461600-45467200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:45461800-45463000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:45461800-45463200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:45461800-45463400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:45461800-45463600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr6:45461800-45463800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:45461800-45463800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:45461800-45463800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:45461800-45463800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:45461800-45464600	Strong transcription	NH-A	brain
37	chr6:45461800-45464800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:45461800-45465000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:45461800-45465000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:45461800-45465400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr6:45462000-45465400	Enhancers	Fetal Thymus	thymus
42	chr6:45462200-45462600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:45462200-45462800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:45462200-45464000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:45462200-45465200	Enhancers	Thymus	Thymus
46	chr6:45462400-45462800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:45462400-45462800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:45462400-45462800	Enhancers	Dnd41	blood
49	chr6:45462400-45462800	Strong transcription	HSMMtube	muscle
50	chr6:45462400-45465000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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