Variant report

Variant	rs62118297
Chromosome Location	chr2:11683162-11683163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11679350-11687662	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:11679174-11683315	HepG2	liver:	n/a	n/a
3	PML	chr2:11679443-11684506	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr2:11681097-11683291	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr2:11679198-11686234	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:11681332-11683172	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
2	chr2:11678223..11684922-chr2:11747400..11752385,8	MCF-7	breast:
3	chr2:11683043..11685711-chr9:131936230..131938147,2	MCF-7	breast:
4	chr17:34398060..34401079-chr2:11680489..11683465,4	MCF-7	breast:
5	chr2:11293490..11296297-chr2:11680693..11684323,3	MCF-7	breast:
6	chr2:11482129..11485059-chr2:11681594..11684381,2	MCF-7	breast:
7	chr17:58601414..58603653-chr2:11681383..11684331,2	MCF-7	breast:
8	chr2:11682824..11685206-chr22:19841808..19843546,2	MCF-7	breast:
9	chr11:62606417..62608466-chr2:11682008..11684472,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4429	TF binding region
ENSG00000185838	Chromatin interaction
ENSG00000215012	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000265583	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000224298	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1561016	0.85[EUR][1000 genomes]
rs62118293	1.00[ASN][1000 genomes]
rs62118294	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678000-11683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
3	chr2:11679000-11683200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:11679000-11683400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:11679200-11683200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:11679200-11683400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:11679400-11683200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:11679400-11683400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:11679400-11683400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:11679600-11684400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:11679800-11684800	Active TSS	Ovary	ovary
12	chr2:11680400-11683800	Weak transcription	Left Ventricle	heart
13	chr2:11680800-11688200	Weak transcription	Fetal Kidney	kidney
14	chr2:11680800-11688400	Weak transcription	Psoas Muscle	Psoas
15	chr2:11681200-11683200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:11681200-11686600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:11682000-11683600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:11682400-11683400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:11682400-11685000	Flanking Active TSS	HepG2	liver
20	chr2:11682600-11683200	Enhancers	Fetal Lung	lung
21	chr2:11682600-11688400	Weak transcription	Pancreas	Pancrea
22	chr2:11682600-11689600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:11682800-11683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:11682800-11684000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11682800-11684800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:11682800-11688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11683000-11684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:11683000-11684800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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