Variant report

Variant	rs2982241
Chromosome Location	chr6:144586162-144586163
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2064196	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2473128	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2502622	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2502623	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2502624	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502625	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2502627	0.88[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7767688	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:144581600-144587200	Weak transcription	Brain Germinal Matrix	brain
2	chr6:144582600-144587400	Weak transcription	Ovary	ovary
3	chr6:144584200-144587400	Weak transcription	Right Ventricle	heart
4	chr6:144584400-144587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:144584600-144586200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:144584600-144587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:144584600-144587800	Enhancers	HUVEC	blood vessel
8	chr6:144584800-144586200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:144584800-144587000	Flanking Active TSS	A549	lung
10	chr6:144584800-144587200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:144585000-144586400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:144585000-144586400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:144585000-144586400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:144585000-144586600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:144585000-144586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144585000-144586800	Enhancers	NHEK	skin
17	chr6:144585000-144587200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:144585000-144587200	Enhancers	Hela-S3	cervix
19	chr6:144585000-144587400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:144585000-144587600	Enhancers	Fetal Intestine Small	intestine
21	chr6:144585000-144587600	Enhancers	HMEC	breast
22	chr6:144585000-144587800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:144585000-144587800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:144585000-144587800	Enhancers	Fetal Heart	heart
25	chr6:144585000-144587800	Enhancers	Fetal Muscle Leg	muscle
26	chr6:144585000-144587800	Enhancers	NHLF	lung
27	chr6:144585200-144586200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:144585200-144586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:144585200-144586600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:144585200-144586600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:144585200-144587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:144585200-144587800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:144585400-144586200	Enhancers	Adipose Nuclei	Adipose
34	chr6:144585400-144586200	Flanking Active TSS	HSMM	muscle
35	chr6:144585400-144586600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:144585400-144586800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:144585400-144586800	Enhancers	Pancreas	Pancrea
38	chr6:144585400-144587000	Flanking Active TSS	HepG2	liver
39	chr6:144585400-144587400	Enhancers	Psoas Muscle	Psoas
40	chr6:144585400-144587800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:144585400-144587800	Enhancers	Liver	Liver
42	chr6:144585400-144588000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:144585600-144586200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:144585600-144586200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:144585600-144586200	Enhancers	Aorta	Aorta
46	chr6:144585600-144586200	Enhancers	Fetal Kidney	kidney
47	chr6:144585600-144586400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:144585600-144586400	Flanking Active TSS	Osteobl	bone
49	chr6:144585600-144586600	Weak transcription	Placenta	Placenta
50	chr6:144585600-144587600	Enhancers	Primary B cells from peripheral blood	blood

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