Variant report

Variant	rs4671943
Chromosome Location	chr2:54718805-54718806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10171331	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10205013	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12477221	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039554	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045917	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087854	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233950	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4561702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635562	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671218	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671940	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58779052	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6545409	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718276	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754429	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72618660	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618661	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72618662	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599380	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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:64 , 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	chr2:54712400-54719600	Weak transcription	Lung	lung
10	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:54714600-54724200	Weak transcription	A549	lung
15	chr2:54714800-54719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:54714800-54720000	Enhancers	Fetal Heart	heart
17	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:54715800-54719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:54715800-54719600	Weak transcription	Fetal Stomach	stomach
20	chr2:54715800-54720800	Weak transcription	NHDF-Ad	bronchial
21	chr2:54715800-54720800	Weak transcription	NHLF	lung
22	chr2:54715800-54722200	Weak transcription	Spleen	Spleen
23	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:54716000-54721000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:54716000-54721000	Weak transcription	Osteobl	bone
26	chr2:54716000-54730000	Weak transcription	NH-A	brain
27	chr2:54716200-54721000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
29	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:54716800-54720000	Enhancers	HepG2	liver
32	chr2:54717000-54719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
34	chr2:54717200-54719000	Enhancers	Right Ventricle	heart
35	chr2:54717200-54719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:54717400-54720800	Enhancers	Right Atrium	heart
37	chr2:54717600-54719000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:54717800-54719000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr2:54717800-54720400	Enhancers	Ovary	ovary
40	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
41	chr2:54718000-54719600	Weak transcription	Psoas Muscle	Psoas
42	chr2:54718200-54719400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:54718200-54719600	Weak transcription	Gastric	stomach
44	chr2:54718200-54720400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:54718200-54720800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:54718200-54723800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:54718200-54724200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
49	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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