Variant report

Variant	rs13190743
Chromosome Location	chr6:54710817-54710818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:54710649-54710826	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:54710340-54713314	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:54710248-54714679	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:54483454..54486448-chr6:54709404..54710933,2	MCF-7	breast:
2	chr6:54709139..54711220-chr6:54750997..54752618,2	MCF-7	breast:
3	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:
4	chr14:65876592..65878564-chr6:54710365..54711981,2	MCF-7	breast:
5	chr6:54709202..54711186-chr6:54779955..54782595,2	MCF-7	breast:
6	chr6:54633061..54636995-chr6:54710354..54713223,5	MCF-7	breast:

No data

Variant related genes	Relation type
FAM83B	TF binding region
ENSG00000220635	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12196439	1.00[ASN][1000 genomes]
rs12207828	1.00[ASN][1000 genomes]
rs13192654	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212537	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13218354	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13220607	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395638	1.00[ASN][1000 genomes]
rs1395639	1.00[ASN][1000 genomes]
rs17682062	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239782	1.00[ASN][1000 genomes]
rs239784	1.00[ASN][1000 genomes]
rs239785	1.00[ASN][1000 genomes]
rs34317450	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34784567	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35242257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332422	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35355591	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35601036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35776136	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929628	1.00[ASN][1000 genomes]
rs6930882	1.00[ASN][1000 genomes]
rs6936719	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560861	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560863	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560865	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560870	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560871	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71560872	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9464152	1.00[ASN][1000 genomes]
rs9474993	1.00[ASN][1000 genomes]
rs9474994	1.00[ASN][1000 genomes]
rs9474998	1.00[ASN][1000 genomes]
rs9474999	1.00[ASN][1000 genomes]
rs9475000	1.00[ASN][1000 genomes]
rs9475047	1.00[ASN][1000 genomes]
rs9475049	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54709000-54713400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr6:54709000-54714200	Active TSS	Duodenum Mucosa	Duodenum
3	chr6:54709800-54713400	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr6:54710200-54711200	Flanking Active TSS	HMEC	breast
5	chr6:54710200-54711600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:54710400-54711200	Flanking Active TSS	NHEK	skin
7	chr6:54710400-54713200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:54710600-54711000	Weak transcription	Stomach Mucosa	stomach
9	chr6:54710600-54711200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:54710600-54713800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:54710800-54711000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:54710800-54711000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:54710800-54711000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:54710800-54711000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:54710800-54711000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr6:54710800-54711000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr6:54710800-54711000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:54710800-54711000	Enhancers	Fetal Heart	heart
19	chr6:54710800-54711000	Active TSS	Fetal Stomach	stomach
20	chr6:54710800-54711000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr6:54710800-54711000	Flanking Active TSS	Hela-S3	cervix
22	chr6:54710800-54711200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr6:54710800-54711400	Flanking Active TSS	Placenta	Placenta
24	chr6:54710800-54711400	Active TSS	Rectal Smooth Muscle	rectum
25	chr6:54710800-54712200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:54710800-54712200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr6:54710800-54712400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:54710800-54712400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:54710800-54712400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:54710800-54712600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:54710800-54712600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:54710800-54712800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:54710800-54713000	Active TSS	Fetal Intestine Small	intestine
34	chr6:54710800-54713000	Active TSS	Right Atrium	heart
35	chr6:54710800-54713600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr6:54710800-54714400	Active TSS	Colonic Mucosa	Colon

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