Variant report

Variant	rs61819646
Chromosome Location	chr1:214665677-214665678
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: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17790652	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61819593	0.84[EUR][1000 genomes]
rs61819619	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61819626	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61819634	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61819639	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61819643	0.91[AMR][1000 genomes]
rs61819645	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61819647	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214645800-214666000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:214650200-214666000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:214651000-214666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:214651200-214666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:214651200-214666400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
10	chr1:214652000-214665800	Weak transcription	NHDF-Ad	bronchial
11	chr1:214652000-214666000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:214654400-214677400	Weak transcription	Gastric	stomach
13	chr1:214656800-214665800	Weak transcription	HMEC	breast
14	chr1:214656800-214667800	Weak transcription	A549	lung
15	chr1:214658600-214668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:214658800-214666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:214658800-214667600	Weak transcription	HSMM	muscle
18	chr1:214659800-214665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:214660200-214667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:214660200-214667800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:214660200-214668000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:214661000-214666000	Strong transcription	NHEK	skin
23	chr1:214661000-214666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:214661200-214666200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:214661400-214665800	Weak transcription	Ovary	ovary
26	chr1:214661400-214666400	Weak transcription	Right Atrium	heart
27	chr1:214661400-214667800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:214662400-214666200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:214662600-214665800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:214663000-214666800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:214663200-214666400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:214663200-214673600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:214663800-214667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:214664000-214665800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:214664600-214666600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:214664600-214666600	Enhancers	Left Ventricle	heart
37	chr1:214664600-214666800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:214664600-214667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:214664600-214669400	Weak transcription	Fetal Kidney	kidney
40	chr1:214664800-214665800	Enhancers	HUVEC	blood vessel
41	chr1:214664800-214666600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:214664800-214666600	Enhancers	Colon Smooth Muscle	Colon
43	chr1:214664800-214666800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:214664800-214666800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:214664800-214671800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:214664800-214672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:214665000-214669600	Weak transcription	Spleen	Spleen
48	chr1:214665200-214665800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:214665200-214666000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:214665200-214666000	Enhancers	Placenta	Placenta

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