Variant report

Variant	rs4846729
Chromosome Location	chr1:222018002-222018003
allele	A/G
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	chr1:222017427-222018588	K562	blood:	n/a	n/a
2	ZKSCAN1	chr1:222017971-222018025	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222016434..222019265-chr1:222046718..222048578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227925	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10495180	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3003899	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222000600-222019000	Weak transcription	Lung	lung
2	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:222008800-222018800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:222011600-222018800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:222013600-222018800	Weak transcription	NH-A	brain
6	chr1:222014000-222018600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:222014200-222019000	Weak transcription	A549	lung
8	chr1:222014400-222022000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:222014600-222018800	Weak transcription	Stomach Mucosa	stomach
10	chr1:222014600-222019000	Weak transcription	Esophagus	oesophagus
11	chr1:222014600-222019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:222015000-222018200	Weak transcription	Hela-S3	cervix
13	chr1:222015000-222018600	Weak transcription	NHEK	skin
14	chr1:222015000-222019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:222015000-222019200	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:222015000-222019200	Weak transcription	HUVEC	blood vessel
17	chr1:222015000-222022200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:222015400-222018600	Weak transcription	Fetal Lung	lung
19	chr1:222015400-222019000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:222015600-222019000	Weak transcription	NHLF	lung
21	chr1:222015600-222019400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:222015600-222024600	Weak transcription	HSMMtube	muscle
23	chr1:222015800-222018600	Weak transcription	HSMM	muscle
24	chr1:222017800-222019800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:222017800-222020600	Enhancers	HMEC	breast
26	chr1:222018000-222018400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:222018000-222018400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:222018000-222020400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:222018000-222020600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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