Variant report

Variant	rs61822768
Chromosome Location	chr1:175982892-175982893
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	KAP1	chr1:175982813-175983179	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228686	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12402588	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403164	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12407451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12408191	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12408512	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409154	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12411139	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16849609	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17351760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17354043	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4265393	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4292913	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4497165	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4498761	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55779970	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55815340	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56346636	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57729493	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58539711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59540069	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59801736	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60630667	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820918	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61820933	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820935	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820954	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61820962	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61820963	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820964	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820966	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820969	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820971	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61820976	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821000	0.88[EUR][1000 genomes]
rs61821005	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821006	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821032	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821033	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821035	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821055	0.80[AMR][1000 genomes]
rs61821058	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61821059	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822660	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822661	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822663	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822765	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61822766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701833	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74127146	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74127162	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553673	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175946000-175996000	Weak transcription	HMEC	breast
2	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
3	chr1:175954000-175987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:175958000-175987800	Weak transcription	Fetal Thymus	thymus
6	chr1:175973600-176003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:175974000-176003000	Weak transcription	NH-A	brain
8	chr1:175974400-175988200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:175974600-175988800	Weak transcription	Pancreas	Pancrea
10	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:175975400-176003400	Weak transcription	NHLF	lung
12	chr1:175975600-175988400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:175975800-175988800	Weak transcription	Ovary	ovary
14	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
15	chr1:175976400-175996000	Weak transcription	HUVEC	blood vessel
16	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:175977600-175988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:175978200-175985200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:175978200-175985200	Weak transcription	Fetal Heart	heart
22	chr1:175978200-176001000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:175978200-176003600	Weak transcription	Small Intestine	intestine
24	chr1:175978200-176007400	Weak transcription	Brain Germinal Matrix	brain
25	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
26	chr1:175978400-175984400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:175978400-175985000	Weak transcription	GM12878-XiMat	blood
28	chr1:175978400-175986800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:175978400-175987800	Weak transcription	Fetal Stomach	stomach
30	chr1:175978400-175988000	Weak transcription	Thymus	Thymus
31	chr1:175978400-175988600	Weak transcription	Esophagus	oesophagus
32	chr1:175978400-175989400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:175978400-175996000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:175978400-175996600	Weak transcription	Left Ventricle	heart
35	chr1:175978400-176001600	Weak transcription	Fetal Lung	lung
36	chr1:175978400-176003000	Weak transcription	HSMM	muscle
37	chr1:175978400-176006800	Weak transcription	Fetal Brain Female	brain
38	chr1:175978400-176007000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:175978400-176007000	Weak transcription	Fetal Kidney	kidney
40	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:175978600-176007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:175978800-175986000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:175978800-175988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:175978800-176003000	Weak transcription	A549	lung
48	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
49	chr1:175979400-175994800	Weak transcription	Placenta	Placenta
50	chr1:175979400-176009200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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