Variant report

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:99058223-99058412	K562	blood:	n/a	n/a
2	NR2F2	chr2:99058181-99058492	K562	blood:	n/a	n/a
3	GATA2	chr2:99058142-99058525	K562	blood:	n/a	n/a
4	GATA1	chr2:99058009-99058646	PBDE	blood:	n/a	n/a
5	TAL1	chr2:99058201-99058465	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:99046331..99048044-chr2:99057606..99059424,2	K562	blood:
2	chr2:99057075..99059520-chr2:99070798..99073720,2	K562	blood:
3	chr2:99057216..99059526-chr2:99060162..99061722,2	K562	blood:
4	chr2:99056641..99058716-chr2:99059759..99062682,3	K562	blood:

No data

Variant related genes	Relation type
INPP4A	TF binding region
ENSG00000040933	Chromatin interaction

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99051600-99058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:99055200-99058600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:99056200-99059000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:99057200-99060800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:99057400-99060800	Weak transcription	Fetal Heart	heart
6	chr2:99058000-99058400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:99058000-99058800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:99058000-99059000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:99058000-99059200	Enhancers	Fetal Intestine Small	intestine
10	chr2:99058000-99059200	Enhancers	Stomach Mucosa	stomach
11	chr2:99058000-99059400	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:99058000-99060600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:99058200-99060800	Weak transcription	Rectal Mucosa Donor 29	rectum

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