Variant report

Variant	rs12191697
Chromosome Location	chr6:24400398-24400399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:24399949-24401532	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:24400272-24400582	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA1	chr6:24400354-24400646	HepG2	liver:	n/a	n/a
4	NR2F2	chr6:24400347-24401359	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24398649..24401531-chr6:24495303..24497005,2	K562	blood:
2	chr6:24399777..24402402-chr6:24720450..24723229,2	MCF-7	breast:
3	chr6:24398527..24401443-chr6:24402320..24404718,2	MCF-7	breast:
4	chr6:24400135..24402578-chr6:24776210..24779187,2	K562	blood:

No data

Variant related genes	Relation type
MRS2	TF binding region
ENSG00000112308	Chromatin interaction
ENSG00000124532	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000112293	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1056285	0.92[EUR][1000 genomes]
rs11969180	0.92[EUR][1000 genomes]
rs12197494	0.88[AMR][1000 genomes]
rs12210975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13215665	1.00[ASN][1000 genomes]
rs1417414	1.00[AFR][1000 genomes]
rs3761788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804326	1.00[AFR][1000 genomes]
rs45447291	0.92[EUR][1000 genomes]
rs62400418	1.00[ASN][1000 genomes]
rs72828977	1.00[ASN][1000 genomes]
rs7738943	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 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	chr6:24396000-24401200	Weak transcription	Hela-S3	cervix
2	chr6:24398600-24400400	Enhancers	Placenta	Placenta
3	chr6:24399600-24400400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr6:24399600-24400400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:24399600-24400600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:24399600-24401000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:24399600-24401800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:24399800-24400400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:24399800-24400400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:24399800-24400400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:24399800-24400400	Flanking Active TSS	HepG2	liver
12	chr6:24399800-24400600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:24400000-24400400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:24400000-24400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:24400000-24400400	Enhancers	K562	blood
16	chr6:24400000-24400600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:24400000-24401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:24400200-24400400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:24400200-24400400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:24400200-24400600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:24400200-24400800	Enhancers	Fetal Intestine Large	intestine
22	chr6:24400200-24401000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:24400200-24401200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:24400200-24402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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