Variant report

Variant	rs61819647
Chromosome Location	chr1:214666786-214666787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214648961..214651838-chr1:214664599..214667382,2	K562	blood:
2	chr1:214665493..214668241-chr1:214672288..214674423,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17789069	0.81[EUR][1000 genomes]
rs17790652	0.91[AMR][1000 genomes]
rs61819598	0.87[EUR][1000 genomes]
rs61819615	0.90[EUR][1000 genomes]
rs61819619	0.91[AMR][1000 genomes]
rs61819626	0.91[AMR][1000 genomes]
rs61819634	0.91[AMR][1000 genomes]
rs61819639	0.91[AMR][1000 genomes]
rs61819643	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61819645	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61819646	0.83[AMR][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	nsv468094	chr1:214654965-214687725	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv549180	chr1:214654965-214687725	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
5	chr1:214654400-214677400	Weak transcription	Gastric	stomach
6	chr1:214656800-214667800	Weak transcription	A549	lung
7	chr1:214658600-214668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:214658800-214667600	Weak transcription	HSMM	muscle
9	chr1:214660200-214667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:214660200-214667800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:214660200-214668000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:214661400-214667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:214663000-214666800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:214663800-214667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:214664600-214666800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:214664600-214667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:214664600-214669400	Weak transcription	Fetal Kidney	kidney
19	chr1:214664800-214666800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:214664800-214666800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:214664800-214671800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:214664800-214672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:214665000-214669600	Weak transcription	Spleen	Spleen
24	chr1:214665200-214666800	Enhancers	Fetal Heart	heart
25	chr1:214665400-214667600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:214665400-214667800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:214665400-214668600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:214665400-214676600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:214665400-214705400	Weak transcription	Right Ventricle	heart
30	chr1:214665600-214666800	Enhancers	Psoas Muscle	Psoas
31	chr1:214665600-214668400	Enhancers	NHLF	lung
32	chr1:214665600-214670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:214665800-214667000	Enhancers	HMEC	breast
34	chr1:214665800-214668000	Weak transcription	HUVEC	blood vessel
35	chr1:214665800-214669000	Enhancers	NHDF-Ad	bronchial
36	chr1:214666000-214666800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:214666000-214666800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:214666000-214666800	Genic enhancers	NHEK	skin
39	chr1:214666000-214668800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:214666000-214669000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:214666200-214666800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:214666200-214667200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:214666400-214666800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:214666400-214666800	Enhancers	Adipose Nuclei	Adipose
45	chr1:214666400-214666800	Enhancers	Aorta	Aorta
46	chr1:214666600-214667600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:214666600-214667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:214666600-214667600	Weak transcription	Placenta	Placenta
49	chr1:214666600-214667600	Weak transcription	Left Ventricle	heart
50	chr1:214666600-214667800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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