Variant report

Variant	rs56774034
Chromosome Location	chr2:188382693-188382694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr2:188382210-188382850	HepG2	liver:	n/a	n/a
2	RXRA	chr2:188382532-188382818	HepG2	liver:	n/a	n/a
3	EP300	chr2:188382396-188382880	HepG2	liver:	n/a	n/a
4	EP300	chr2:188382467-188382843	HepG2	liver:	n/a	n/a
5	MYBL2	chr2:188382171-188382954	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:188378186-188386262	K562	blood:	n/a	n/a
7	NFIC	chr2:188382383-188382961	HepG2	liver:	n/a	n/a
8	CBX3	chr2:188382480-188383688	K562	blood:	n/a	n/a
9	TEAD4	chr2:188382370-188382927	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:188382293-188382929	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:188382405-188382928	HepG2	liver:	n/a	n/a
12	FOXA2	chr2:188382332-188382814	HepG2	liver:	n/a	n/a
13	TCF7L2	chr2:188382538-188382733	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:188378523-188385446	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:188382504-188382798	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:188382499-188382911	PANC-1	pancreas:	n/a	n/a
17	FOXA1	chr2:188382456-188382785	HepG2	liver:	n/a	n/a
18	MBD4	chr2:188382451-188383177	HepG2	liver:	n/a	n/a
19	JUND	chr2:188382574-188382802	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:188382250-188382935	HepG2	liver:	n/a	n/a
21	HEY1	chr2:188374386-188385783	HepG2	liver:	n/a	n/a
22	SP1	chr2:188382463-188382855	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:188382649-188383062	A549	lung:	n/a	n/a
24	POLR2A	chr2:188382408-188383116	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:188378082-188387449	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
TFPI	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73050518	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription 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 target site	4 gene(s)	inside rSNPs	diseases
2	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	7 gene(s)	inside rSNPs	diseases
12	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1014298	chr2:188359747-188531831	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1013166	chr2:188359747-188544803	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1014942	chr2:188360116-188480738	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv584038	chr2:188370232-188450136	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875580	chr2:188370232-188521234	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2757845	chr2:188380042-188503185	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv2759108	chr2:188380042-188503185	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188367200-188383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:188368400-188383800	Weak transcription	Osteobl	bone
4	chr2:188370000-188389800	Weak transcription	NHDF-Ad	bronchial
5	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
6	chr2:188374000-188383800	Weak transcription	Liver	Liver
7	chr2:188374400-188384000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:188375000-188384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:188376000-188383800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:188376000-188384000	Weak transcription	HUVEC	blood vessel
12	chr2:188376000-188384200	Weak transcription	Left Ventricle	heart
13	chr2:188376000-188385000	Weak transcription	Gastric	stomach
14	chr2:188376400-188383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:188376400-188383400	Weak transcription	HSMMtube	muscle
16	chr2:188376600-188383400	Weak transcription	HSMM	muscle
17	chr2:188376600-188383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:188376600-188384000	Weak transcription	Lung	lung
19	chr2:188377000-188384000	Weak transcription	Placenta	Placenta
20	chr2:188377000-188384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:188378600-188387400	Genic enhancers	HepG2	liver
22	chr2:188379400-188384000	Weak transcription	NHLF	lung
23	chr2:188380800-188383800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:188380800-188385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:188381600-188388200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr2:188381800-188384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:188381800-188385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
29	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
30	chr2:188382000-188384200	Weak transcription	Esophagus	oesophagus
31	chr2:188382400-188383000	Weak transcription	A549	lung
32	chr2:188382400-188384000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:188382600-188384000	Weak transcription	K562	blood
34	chr2:188382600-188391600	Weak transcription	Ovary	ovary

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