Variant report

Variant	rs57853251
Chromosome Location	chr6:45631682-45631683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56054143	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58112491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58407953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58844599	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60294597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60588484	1.00[AMR][1000 genomes]
rs60643594	1.00[AMR][1000 genomes]
rs73444595	1.00[AMR][1000 genomes]
rs73735411	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735414	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735426	1.00[AMR][1000 genomes]
rs73735427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735428	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45626200-45632600	Weak transcription	HSMMtube	muscle
2	chr6:45629600-45633200	Weak transcription	Dnd41	blood
3	chr6:45630400-45632400	Weak transcription	HSMM	muscle
4	chr6:45630400-45635000	Weak transcription	NHDF-Ad	bronchial
5	chr6:45630600-45632000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:45630800-45631800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:45630800-45631800	Bivalent Enhancer	Lung	lung
8	chr6:45630800-45632000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr6:45630800-45632000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:45630800-45632000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:45631000-45631800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:45631000-45631800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:45631000-45631800	Enhancers	Pancreas	Pancrea
14	chr6:45631000-45631800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr6:45631000-45632000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:45631000-45632000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:45631000-45632000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:45631000-45632000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:45631000-45632000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr6:45631000-45632000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr6:45631000-45634200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:45631000-45635600	Enhancers	NH-A	brain
23	chr6:45631200-45631800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr6:45631200-45631800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr6:45631200-45631800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:45631200-45631800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:45631200-45631800	Bivalent Enhancer	Liver	Liver
28	chr6:45631200-45631800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr6:45631200-45631800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
30	chr6:45631200-45631800	Enhancers	Spleen	Spleen
31	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr6:45631200-45632000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr6:45631200-45632000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr6:45631200-45632000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:45631200-45632000	Active TSS	Brain Angular Gyrus	brain
37	chr6:45631200-45632000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr6:45631200-45632000	Bivalent Enhancer	Fetal Heart	heart
40	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr6:45631200-45632000	Active TSS	Ovary	ovary
42	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr6:45631200-45632000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr6:45631200-45632400	Active TSS	Rectal Smooth Muscle	rectum
45	chr6:45631400-45631800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:45631400-45631800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:45631400-45631800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:45631400-45631800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr6:45631400-45631800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr6:45631400-45631800	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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