Variant report

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr5:50261520-50262806	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr5:50258469-50261560	SK-N-SH	brain:	n/a	n/a
3	SIN3A	chr5:50261485-50263029	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr5:50261236-50262966	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:38003355..38005334-chr5:50260049..50263278,3	MCF-7	breast:

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No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EMB-3	chr5:50261521-50261966	XLOC_004815
2	lnc-PARP8-2	chr5:50260253-50261737	NONHSAT101376

No data

Variant related genes	Relation type
ENSG00000248918	TF binding region
ENSG00000100083	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10472047	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345777	0.85[YRI][hapmap]
rs1363846	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs151997	0.85[YRI][hapmap]
rs152817	0.86[YRI][hapmap]
rs27247	0.86[YRI][hapmap]
rs27249	0.85[YRI][hapmap]
rs3846499	0.89[YRI][hapmap]
rs3846500	0.88[YRI][hapmap]
rs6870880	1.00[YRI][hapmap]
rs6882235	1.00[YRI][hapmap]

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	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830286	chr5:50165805-50374600	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50258600-50261600	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:50258600-50266600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:50260200-50265000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:50260400-50261800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:50260400-50261800	Weak transcription	Pancreas	Pancrea
6	chr5:50260400-50262000	Weak transcription	Right Atrium	heart
7	chr5:50261200-50261600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr5:50261200-50262000	Bivalent/Poised TSS	Fetal Stomach	stomach
9	chr5:50261200-50262600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:50261400-50261800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:50261400-50261800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:50261400-50262200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:50261400-50262200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr5:50261400-50262400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:50261400-50262800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:50261400-50263400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr5:50261400-50263600	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr5:50261400-50266400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:50261400-50266400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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