Variant report

Variant	rs2986203
Chromosome Location	chr1:153451085-153451086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153361858..153365195-chr1:153447967..153452126,4	MCF-7	breast:
2	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
3	chr1:153444815..153448277-chr1:153449752..153453118,4	MCF-7	breast:
4	chr1:153443878..153448578-chr1:153449187..153452566,7	MCF-7	breast:
5	chr1:153445670..153449598-chr1:153450178..153453743,4	K562	blood:
6	chr1:153449114..153453479-chr1:153459428..153463150,4	MCF-7	breast:
7	chr1:153394036..153396419-chr1:153449651..153451627,2	MCF-7	breast:
8	chr1:153450402..153452356-chr1:153454698..153456211,2	MCF-7	breast:
9	chr1:153450588..153453299-chr1:153453645..153457534,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163220	Chromatin interaction
ENSG00000143546	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16835344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3006432	1.00[AMR][1000 genomes]
rs3014830	1.00[AMR][1000 genomes]
rs3014844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3014852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3118476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58408424	1.00[AMR][1000 genomes]
rs60387319	1.00[AMR][1000 genomes]
rs73022422	1.00[AMR][1000 genomes]
rs73022487	1.00[AMR][1000 genomes]
rs73022488	1.00[AMR][1000 genomes]
rs73022493	1.00[AMR][1000 genomes]
rs73022495	1.00[AMR][1000 genomes]
rs73024403	1.00[AMR][1000 genomes]
rs73024405	1.00[AMR][1000 genomes]
rs73024413	1.00[AMR][1000 genomes]
rs73024414	1.00[AMR][1000 genomes]
rs73024423	1.00[AMR][1000 genomes]
rs9003	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153450600-153451800	Enhancers	Fetal Heart	heart
2	chr1:153450600-153451800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:153450600-153452000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:153450600-153452000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:153450600-153452000	Enhancers	Esophagus	oesophagus
6	chr1:153450600-153452200	Enhancers	Stomach Mucosa	stomach
7	chr1:153450600-153453800	Enhancers	HepG2	liver
8	chr1:153450800-153451600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:153450800-153451600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:153450800-153451600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:153450800-153452000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:153450800-153452000	Enhancers	Fetal Intestine Large	intestine
13	chr1:153450800-153452000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:153450800-153452200	Enhancers	Hela-S3	cervix
15	chr1:153451000-153451400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:153451000-153451800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:153451000-153452000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:153451000-153467400	Weak transcription	Ovary	ovary

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