Variant report

Variant	rs72489102
Chromosome Location	chr2:188414970-188414971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr2:188414586-188415313	HepG2	liver:	n/a	n/a
2	EP300	chr2:188414846-188415349	A549	lung:	n/a	n/a
3	EP300	chr2:188414628-188415326	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:188413943-188416995	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:188413653-188416610	HUVEC	blood vessel:	n/a	n/a
6	JUND	chr2:188414740-188415232	HepG2	liver:	n/a	n/a
7	HDAC2	chr2:188414599-188415322	HepG2	liver:	n/a	n/a
8	TEAD4	chr2:188414487-188415784	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:188414882-188415202	HepG2	liver:	n/a	n/a
10	MBD4	chr2:188410002-188416722	HepG2	liver:	n/a	n/a
11	FOXA2	chr2:188414701-188415251	HepG2	liver:	n/a	n/a
12	RXRA	chr2:188414765-188415171	HepG2	liver:	n/a	n/a
13	MYBL2	chr2:188414522-188415426	HepG2	liver:	n/a	n/a
14	TCF7L2	chr2:188414825-188415129	HepG2	liver:	n/a	n/a
15	FOXA1	chr2:188414701-188415207	HepG2	liver:	n/a	n/a
16	EP300	chr2:188414556-188415406	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:188414651-188415080	HepG2	liver:	n/a	n/a
18	HNF4G	chr2:188414703-188415240	HepG2	liver:	n/a	n/a
19	HEY1	chr2:188414297-188416436	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:188414640-188415460	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:188414810-188415286	A549	lung:	n/a	n/a
22	CEBPD	chr2:188414876-188415207	HepG2	liver:	n/a	n/a
23	REST	chr2:188414677-188415202	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:188414836-188415323	A549	lung:	n/a	n/a
25	POLR2A	chr2:188414733-188415033	HepG2	liver:	n/a	n/a
26	MYBL2	chr2:188413852-188416295	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:188410665-188416978	K562	blood:	n/a	n/a
28	FOXA1	chr2:188414620-188415137	HepG2	liver:	n/a	n/a
29	GATA3	chr2:188414847-188415425	A549	lung:	n/a	n/a
30	CEBPB	chr2:188414750-188415497	A549	lung:	n/a	n/a
31	POLR2A	chr2:188412875-188416718	HepG2	liver:	n/a	n/a
32	SP1	chr2:188414715-188415390	A549	lung:	n/a	n/a
33	ARID3A	chr2:188414692-188415523	HepG2	liver:	n/a	n/a
34	TCF12	chr2:188414805-188415219	HepG2	liver:	n/a	n/a
35	MBD4	chr2:188414501-188416438	HepG2	liver:	n/a	n/a
36	IRF1	chr2:188414622-188414971	K562	blood:	n/a	n/a
37	HEY1	chr2:188414649-188415240	HepG2	liver:	n/a	n/a
38	REST	chr2:188414625-188415275	A549	lung:	n/a	n/a
39	MXI1	chr2:188414690-188415271	HepG2	liver:	n/a	n/a
40	HNF4A	chr2:188414593-188415278	HepG2	liver:	n/a	n/a
41	NFIC	chr2:188414646-188415357	HepG2	liver:	n/a	n/a
42	NR3C1	chr2:188414796-188415227	A549	lung:	n/a	n/a
43	POLR2A	chr2:188414683-188415272	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr2:188414748-188415228	HepG2	liver:	n/a	n/a
45	NFIC	chr2:188413801-188416267	HepG2	liver:	n/a	chr2:188414032-188414060
46	MYC	chr2:188414964-188415160	MCF10A-Er-Src	breast:	n/a	n/a
47	CEBPB	chr2:188414789-188415355	HepG2	liver:	n/a	n/a
48	CUX1	chr2:188414825-188415130	K562	blood:	n/a	n/a
49	TCF12	chr2:188414633-188415352	A549	lung:	n/a	n/a
50	FOXA1	chr2:188414618-188415433	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188408868..188410387-chr2:188412786..188414991,2	MCF-7	breast:
2	chr2:188395046..188397968-chr2:188414786..188417959,4	K562	blood:
3	chr2:188412314..188413944-chr2:188414421..188417624,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224063	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2192825	0.86[ASN][1000 genomes]
rs4667169	0.80[ASN][1000 genomes]
rs58412611	0.81[ASN][1000 genomes]
rs60432325	0.81[ASN][1000 genomes]
rs6715469	0.86[ASN][1000 genomes]
rs71432495	0.81[ASN][1000 genomes]
rs7594359	0.86[ASN][1000 genomes]
rs7603416	0.86[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv875581	chr2:188390819-188521234	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv875582	chr2:188395700-188508011	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv875583	chr2:188395700-188521234	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv875584	chr2:188414161-188500930	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188398400-188418000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:188406800-188415600	Weak transcription	Spleen	Spleen
4	chr2:188406800-188417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:188406800-188418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:188409800-188415600	Weak transcription	Placenta	Placenta
9	chr2:188409800-188415600	Weak transcription	Lung	lung
10	chr2:188409800-188415600	Weak transcription	Ovary	ovary
11	chr2:188409800-188416000	Weak transcription	Left Ventricle	heart
12	chr2:188410800-188417800	Weak transcription	Fetal Kidney	kidney
13	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:188411000-188416200	Enhancers	Fetal Lung	lung
15	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:188411800-188415400	Genic enhancers	K562	blood
18	chr2:188412000-188415600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:188412400-188415600	Weak transcription	Pancreas	Pancrea
20	chr2:188412600-188415600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:188412600-188415600	Weak transcription	Dnd41	blood
22	chr2:188412600-188416000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:188412600-188417600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:188412600-188418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:188412600-188418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:188412800-188415600	Weak transcription	NH-A	brain
27	chr2:188413200-188415600	Active TSS	Psoas Muscle	Psoas
28	chr2:188413200-188417200	Weak transcription	Fetal Stomach	stomach
29	chr2:188413200-188417400	Enhancers	Stomach Mucosa	stomach
30	chr2:188413400-188417800	Weak transcription	HMEC	breast
31	chr2:188413400-188417800	Weak transcription	NHEK	skin
32	chr2:188413400-188418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:188413600-188419800	Active TSS	Right Atrium	heart
34	chr2:188413800-188417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:188414000-188416600	Flanking Active TSS	HUVEC	blood vessel
36	chr2:188414000-188416800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:188414000-188417200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:188414200-188415200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:188414200-188415400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:188414200-188415600	Active TSS	NHLF	lung
41	chr2:188414200-188416000	Enhancers	Hela-S3	cervix
42	chr2:188414200-188417400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:188414400-188415000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:188414400-188416600	Flanking Active TSS	HepG2	liver
45	chr2:188414600-188415000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:188414600-188415000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:188414600-188415000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:188414600-188415000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:188414600-188415000	Active TSS	Aorta	Aorta
50	chr2:188414600-188415000	Active TSS	Duodenum Mucosa	Duodenum

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