Variant report

Variant	rs73723268
Chromosome Location	chr6:13330051-13330052
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13327917-13330219	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:13327774-13330074	SK-N-MC	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13328120..13330665-chr6:45294928..45297649,2	MCF-7	breast:
2	chr6:13328740..13330326-chr6:13487032..13488615,2	K562	blood:
3	chr6:13328881..13330623-chr6:13484521..13487494,2	K562	blood:
4	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
5	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
6	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:
7	chr6:13329242..13331111-chr6:13335372..13336934,2	K562	blood:
8	chr6:13272205..13274313-chr6:13327989..13330165,3	K562	blood:
9	chr6:13329445..13333352-chr6:13573516..13577433,5	MCF-7	breast:
10	chr6:13328551..13330063-chr6:13614830..13616645,2	MCF-7	breast:
11	chr6:13327180..13330479-chr6:13614329..13617751,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHACTR1-1	chr6:13329957-13330071	NONHSAT107802
2	lnc-PHACTR1-1	chr6:13329956-13330062	NONHSAT107803

No data

Variant related genes	Relation type
TBC1D7	TF binding region
ENSG00000225921	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000145990	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16873767	1.00[EUR][1000 genomes]
rs16873768	1.00[EUR][1000 genomes]
rs55753088	1.00[EUR][1000 genomes]
rs56154949	1.00[EUR][1000 genomes]
rs56173882	1.00[EUR][1000 genomes]
rs56781599	1.00[EUR][1000 genomes]
rs58050056	1.00[EUR][1000 genomes]
rs60715176	1.00[EUR][1000 genomes]
rs6929987	1.00[EUR][1000 genomes]
rs73723203	1.00[EUR][1000 genomes]
rs73725634	1.00[EUR][1000 genomes]
rs73725652	1.00[EUR][1000 genomes]
rs7747808	1.00[EUR][1000 genomes]
rs9473686	1.00[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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13329200-13340400	Weak transcription	Spleen	Spleen
2	chr6:13329400-13332200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:13329400-13332200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:13329400-13333600	Enhancers	Fetal Heart	heart
5	chr6:13329400-13336800	Weak transcription	Placenta	Placenta
6	chr6:13329400-13337000	Weak transcription	Psoas Muscle	Psoas
7	chr6:13329400-13344200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:13329600-13331800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:13329600-13332200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:13329600-13332400	Weak transcription	Fetal Lung	lung
11	chr6:13329600-13334800	Weak transcription	HUVEC	blood vessel
12	chr6:13329600-13335200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:13329600-13335200	Weak transcription	Right Atrium	heart
14	chr6:13329600-13336800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:13329600-13337000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:13329600-13337000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:13329800-13330800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:13329800-13330800	Weak transcription	Left Ventricle	heart
19	chr6:13329800-13330800	Weak transcription	Right Ventricle	heart
20	chr6:13329800-13331400	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:13329800-13332200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:13329800-13332200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:13329800-13332200	Weak transcription	A549	lung
24	chr6:13329800-13333200	Weak transcription	Pancreas	Pancrea
25	chr6:13329800-13334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:13329800-13334800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:13329800-13335200	Weak transcription	Fetal Thymus	thymus
28	chr6:13329800-13335200	Weak transcription	Hela-S3	cervix
29	chr6:13329800-13336600	Weak transcription	GM12878-XiMat	blood
30	chr6:13329800-13336800	Weak transcription	Brain Angular Gyrus	brain
31	chr6:13329800-13336800	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:13329800-13337000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:13329800-13337200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:13330000-13331200	Weak transcription	HepG2	liver
35	chr6:13330000-13332800	Enhancers	K562	blood
36	chr6:13330000-13334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:13330000-13335200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:13330000-13337000	Weak transcription	Rectal Mucosa Donor 29	rectum

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