Variant report

Variant	rs3860320
Chromosome Location	chr1:220543098-220543099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10157171	0.89[AFR][1000 genomes]
rs1022178	0.89[AFR][1000 genomes]
rs10495148	1.00[AMR][1000 genomes]
rs10746397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863547	0.89[AFR][1000 genomes]
rs10863548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10863549	1.00[AMR][1000 genomes]
rs11118540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1112147	1.00[AMR][1000 genomes]
rs11799728	1.00[AMR][1000 genomes]
rs11800084	1.00[AMR][1000 genomes]
rs11800803	1.00[AMR][1000 genomes]
rs11801306	1.00[AMR][1000 genomes]
rs11802827	1.00[AMR][1000 genomes]
rs11803715	1.00[AMR][1000 genomes]
rs11810690	1.00[AMR][1000 genomes]
rs11811839	1.00[AMR][1000 genomes]
rs1338769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1338772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1361254	1.00[AMR][1000 genomes]
rs1361255	1.00[AMR][1000 genomes]
rs1511696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17007924	1.00[AMR][1000 genomes]
rs1999935	0.93[AFR][1000 genomes]
rs1999937	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2221832	0.93[AFR][1000 genomes]
rs4105051	0.97[AFR][1000 genomes]
rs4282827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57176776	1.00[AMR][1000 genomes]
rs6541144	1.00[AMR][1000 genomes]
rs6660112	1.00[AMR][1000 genomes]
rs6671023	1.00[AMR][1000 genomes]
rs6673589	1.00[AMR][1000 genomes]
rs6684421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6696558	1.00[AMR][1000 genomes]
rs6704108	1.00[AMR][1000 genomes]
rs74139644	1.00[AMR][1000 genomes]
rs7512854	1.00[AMR][1000 genomes]
rs7527902	1.00[AMR][1000 genomes]
rs7536389	1.00[AMR][1000 genomes]
rs7550011	1.00[AMR][1000 genomes]
rs7554825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs907417	0.81[AFR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:220537000-220543400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:220537000-220544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:220540600-220544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:220541000-220543400	Enhancers	Hela-S3	cervix
5	chr1:220541000-220544400	Enhancers	HSMMtube	muscle
6	chr1:220541200-220544600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:220541200-220544600	Enhancers	NH-A	brain
8	chr1:220541200-220544600	Enhancers	NHDF-Ad	bronchial
9	chr1:220541400-220544200	Enhancers	Fetal Kidney	kidney
10	chr1:220541400-220544400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:220541400-220544400	Enhancers	Osteobl	bone
12	chr1:220541400-220544600	Enhancers	NHLF	lung
13	chr1:220541400-220544800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:220541400-220545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:220541400-220545000	Enhancers	HMEC	breast
16	chr1:220541600-220543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:220541600-220543400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:220541600-220544000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:220541600-220544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:220541600-220544400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:220541600-220544600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:220541600-220544800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:220541600-220544800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:220541600-220545000	Enhancers	Placenta	Placenta
25	chr1:220541600-220545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:220541600-220545200	Enhancers	Fetal Muscle Leg	muscle
27	chr1:220541800-220543600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:220541800-220544000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:220541800-220544600	Enhancers	Right Atrium	heart
30	chr1:220541800-220545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:220542000-220543600	Enhancers	NHEK	skin
32	chr1:220542200-220543200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:220542200-220544800	Enhancers	Left Ventricle	heart
34	chr1:220542400-220543400	Weak transcription	Fetal Stomach	stomach
35	chr1:220542400-220543600	Weak transcription	Right Ventricle	heart
36	chr1:220542400-220544400	Enhancers	Adipose Nuclei	Adipose
37	chr1:220542400-220544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:220542400-220544800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:220542400-220552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:220542600-220543600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:220542600-220543600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:220542600-220543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:220542600-220543800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:220542600-220544200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:220542600-220544800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:220542800-220543200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:220542800-220543200	Weak transcription	Spleen	Spleen
48	chr1:220542800-220543800	Weak transcription	Esophagus	oesophagus
49	chr1:220542800-220544000	Weak transcription	Psoas Muscle	Psoas
50	chr1:220543000-220543400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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