Variant report

Variant	rs6743400
Chromosome Location	chr2:54720477-54720478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60282658	1.00[AMR][1000 genomes]
rs6709549	1.00[AMR][1000 genomes]
rs6728822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915040	1.00[AMR][1000 genomes]
rs72915054	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54707800-54720800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
5	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:54711800-54721000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:54712000-54721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:54714600-54724200	Weak transcription	A549	lung
14	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:54715800-54720800	Weak transcription	NHDF-Ad	bronchial
16	chr2:54715800-54720800	Weak transcription	NHLF	lung
17	chr2:54715800-54722200	Weak transcription	Spleen	Spleen
18	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:54716000-54721000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:54716000-54721000	Weak transcription	Osteobl	bone
21	chr2:54716000-54730000	Weak transcription	NH-A	brain
22	chr2:54716200-54721000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
24	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
27	chr2:54717400-54720800	Enhancers	Right Atrium	heart
28	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
29	chr2:54718200-54720800	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:54718200-54723800	Weak transcription	Brain Substantia Nigra	brain
31	chr2:54718200-54724200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
33	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:54718400-54721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:54718600-54720800	Weak transcription	Fetal Lung	lung
39	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:54719000-54722200	Weak transcription	Brain Angular Gyrus	brain
41	chr2:54719000-54724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
45	chr2:54719400-54720800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:54719600-54720600	Enhancers	Right Ventricle	heart
48	chr2:54719600-54721000	Genic enhancers	Left Ventricle	heart
49	chr2:54719600-54721200	Strong transcription	Fetal Stomach	stomach
50	chr2:54719800-54721200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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