Variant report

Variant	rs61819644
Chromosome Location	chr1:214660467-214660468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:214660463-214660534	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214660024..214663647-chr1:214669721..214672544,3	K562	blood:
2	chr1:214659692..214662430-chr1:214669544..214671221,2	K562	blood:

Variant related genes	Relation type
ENSG00000213036	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10158378	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158490	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159086	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159464	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732499	1.00[AFR][1000 genomes]
rs12740482	1.00[AFR][1000 genomes]
rs17732539	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17732675	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17790515	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790562	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34415256	1.00[AFR][1000 genomes]
rs35226076	1.00[AFR][1000 genomes]
rs35646913	1.00[AFR][1000 genomes]
rs4584365	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5024205	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57880156	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58530653	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60798187	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61745825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819590	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61819591	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61819594	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61819596	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61819600	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819616	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819617	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819618	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819620	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819621	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61819622	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819623	0.89[EUR][1000 genomes]
rs61819624	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819625	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819627	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819628	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819630	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819631	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819632	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819637	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139884	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139885	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139887	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139888	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139889	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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:53 , 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	chr1:214647200-214661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:214649200-214660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:214650200-214666000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:214650800-214662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:214651000-214666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:214651200-214664600	Weak transcription	Left Ventricle	heart
11	chr1:214651200-214665600	Weak transcription	NHLF	lung
12	chr1:214651200-214666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:214651200-214666400	Weak transcription	Adipose Nuclei	Adipose
14	chr1:214651600-214661400	Weak transcription	Fetal Heart	heart
15	chr1:214651800-214663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:214651800-214665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
18	chr1:214652000-214665800	Weak transcription	NHDF-Ad	bronchial
19	chr1:214652000-214666000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:214652200-214664800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:214652600-214662000	Weak transcription	HUVEC	blood vessel
22	chr1:214654400-214677400	Weak transcription	Gastric	stomach
23	chr1:214656800-214664600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:214656800-214665800	Weak transcription	HMEC	breast
25	chr1:214656800-214667800	Weak transcription	A549	lung
26	chr1:214657800-214660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:214658200-214662200	Weak transcription	Psoas Muscle	Psoas
28	chr1:214658400-214661200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:214658400-214661800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:214658400-214665000	Weak transcription	NH-A	brain
31	chr1:214658600-214660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:214658600-214668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:214658800-214666200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:214658800-214667600	Weak transcription	HSMM	muscle
35	chr1:214659000-214661000	Weak transcription	NHEK	skin
36	chr1:214659000-214661200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:214659200-214661400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:214659800-214661000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:214659800-214662600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:214659800-214663200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:214659800-214665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:214660000-214660600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:214660000-214663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:214660000-214664600	Weak transcription	Osteobl	bone
45	chr1:214660200-214664600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:214660200-214664800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:214660200-214664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:214660200-214667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:214660200-214667800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:214660200-214668000	Weak transcription	H1 Cell Line	embryonic stem cell

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