Variant report

Variant	rs61771976
Chromosome Location	chr1:85750164-85750165
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	POLR2A	chr1:85749990-85750304	HepG2	liver:	n/a	n/a
2	HEY1	chr1:85749998-85750256	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:85750089-85750255	HepG2	liver:	n/a	n/a
4	TBP	chr1:85749963-85750202	HepG2	liver:	n/a	n/a
5	HEY1	chr1:85749919-85750285	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:85750014-85750218	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:85749939-85750277	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:85749999-85750246	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:85750058-85750180	HepG2	liver:	n/a	n/a
10	KAP1	chr1:85750147-85750486	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85741905..85744580-chr1:85747619..85751624,6	K562	blood:
2	chr1:85742187..85745018-chr1:85749555..85753087,3	K562	blood:

Variant related genes	Relation type
ENSG00000264380	TF binding region
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17124475	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17125070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17382610	0.84[EUR][1000 genomes]
rs17386581	0.82[EUR][1000 genomes]
rs61769480	0.80[EUR][1000 genomes]
rs61771963	0.82[EUR][1000 genomes]
rs61771964	0.82[EUR][1000 genomes]
rs61771966	0.84[EUR][1000 genomes]
rs61771967	0.84[EUR][1000 genomes]
rs61771968	0.84[EUR][1000 genomes]
rs61771969	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61771970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61771973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61771977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61771978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61771979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85743200-85752000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:85745200-85753600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:85746800-85753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:85747600-85750200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:85748800-85750800	Enhancers	Esophagus	oesophagus
9	chr1:85749000-85750200	Enhancers	Stomach Mucosa	stomach
10	chr1:85749200-85750200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85749400-85750200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:85749400-85750400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85749600-85755000	Weak transcription	A549	lung
14	chr1:85749800-85750400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr1:85749800-85753000	Weak transcription	HMEC	breast
16	chr1:85749800-85755000	Weak transcription	Hela-S3	cervix
17	chr1:85749800-85755400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:85750000-85750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:85750000-85750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:85750000-85750200	Flanking Active TSS	HepG2	liver
21	chr1:85750000-85752800	Weak transcription	NHEK	skin
22	chr1:85750000-85753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:85750000-85761400	Weak transcription	Lung	lung
24	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea

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