Variant report

Variant	rs2067770
Chromosome Location	chr2:188418290-188418291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:188417884-188418362	Hela-S3	cervix:	n/a	chr2:188418062-188418073 chr2:188418064-188418072
2	CEBPB	chr2:188417805-188418646	A549	lung:	n/a	chr2:188418316-188418327 chr2:188418314-188418327 chr2:188418314-188418325 chr2:188418316-188418325
3	MYC	chr2:188417816-188418501	K562	blood:	n/a	n/a
4	MAFK	chr2:188417808-188419200	Hela-S3	cervix:	n/a	chr2:188418731-188418742 chr2:188418731-188418742 chr2:188418730-188418741 chr2:188418730-188418741
5	EP300	chr2:188417822-188418405	GM12878	blood:	n/a	chr2:188418088-188418102
6	POLR2A	chr2:188417809-188418312	K562	blood:	n/a	n/a
7	FOS	chr2:188417812-188419348	MCF10A-Er-Src	breast:	n/a	chr2:188418062-188418073 chr2:188418064-188418072
8	STAT3	chr2:188417779-188418876	MCF10A-Er-Src	breast:	n/a	chr2:188418226-188418237 chr2:188418316-188418324
9	BCL3	chr2:188417712-188418398	A549	lung:	n/a	n/a
10	IRF1	chr2:188416961-188419744	K562	blood:	n/a	chr2:188418226-188418237 chr2:188418223-188418237 chr2:188417369-188417385 chr2:188418225-188418236 chr2:188418794-188418807 chr2:188418226-188418238 chr2:188418226-188418238 chr2:188418554-188418574 chr2:188418227-188418237 chr2:188418227-188418241 chr2:188418221-188418238
11	NR2F2	chr2:188417787-188418401	K562	blood:	n/a	chr2:188418365-188418380
12	POLR2A	chr2:188417738-188418323	U87	brain:	n/a	n/a
13	JUND	chr2:188417791-188418356	Hela-S3	cervix:	n/a	chr2:188418062-188418073 chr2:188418043-188418054 chr2:188418064-188418072
14	JUN	chr2:188417832-188418338	HUVEC	blood vessel:	n/a	chr2:188418064-188418072
15	TEAD4	chr2:188417729-188418397	K562	blood:	n/a	n/a
16	POLR2A	chr2:188417421-188419368	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr2:188417781-188418503	Hela-S3	cervix:	n/a	chr2:188418088-188418102
18	FOSL1	chr2:188417756-188418362	HCT-116	colon:	n/a	chr2:188418064-188418072
19	IRF1	chr2:188416940-188419415	K562	blood:	n/a	chr2:188418226-188418237 chr2:188418223-188418237 chr2:188417369-188417385 chr2:188418225-188418236 chr2:188418794-188418807 chr2:188418226-188418238 chr2:188418226-188418238 chr2:188418554-188418574 chr2:188418227-188418237 chr2:188418227-188418241 chr2:188418221-188418238
20	SP1	chr2:188417700-188418474	A549	lung:	n/a	n/a
21	SIN3AK20	chr2:188417704-188418331	MCF-7	breast:	n/a	n/a
22	STAT3	chr2:188417809-188418499	MCF10A-Er-Src	breast:	n/a	chr2:188418226-188418237 chr2:188418316-188418324
23	BHLHE40	chr2:188417969-188418369	A549	lung:	n/a	n/a
24	JUND	chr2:188417706-188418341	HCT-116	colon:	n/a	chr2:188418062-188418073 chr2:188418043-188418054 chr2:188418064-188418072
25	TCF7L2	chr2:188417895-188418469	Hela-S3	cervix:	n/a	chr2:188417929-188417938
26	FOSL2	chr2:188417708-188418542	A549	lung:	n/a	chr2:188418064-188418072
27	POLR2A	chr2:188417292-188419679	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr2:188417831-188418658	K562	blood:	n/a	chr2:188418316-188418327 chr2:188418314-188418327 chr2:188418314-188418325 chr2:188418316-188418325
29	TEAD4	chr2:188417690-188418442	K562	blood:	n/a	n/a
30	SETDB1	chr2:188417736-188418368	U2OS	brain:	n/a	n/a
31	ARID3A	chr2:188417188-188419388	K562	blood:	n/a	n/a
32	FOS	chr2:188417865-188418371	MCF10A-Er-Src	breast:	n/a	chr2:188418062-188418073 chr2:188418064-188418072
33	POLR2A	chr2:188417731-188419477	PBDE	blood:	n/a	n/a
34	SMARCA4	chr2:188417077-188419837	K562	blood:	n/a	chr2:188418064-188418073
35	NR2F2	chr2:188417806-188418314	MCF-7	breast:	n/a	n/a
36	MAFF	chr2:188417771-188418408	K562	blood:	n/a	n/a
37	POLR2A	chr2:188417582-188419365	HepG2	liver:	n/a	n/a
38	FOS	chr2:188417833-188418320	HUVEC	blood vessel:	n/a	chr2:188418062-188418073 chr2:188418064-188418072
39	MAX	chr2:188417704-188418305	A549	lung:	n/a	n/a
40	MXI1	chr2:188417652-188419816	IMR90	lung:	n/a	n/a
41	TAF1	chr2:188417855-188418760	K562	blood:	n/a	n/a
42	STAT3	chr2:188417824-188418472	Hela-S3	cervix:	n/a	chr2:188418226-188418237 chr2:188418316-188418324
43	MAFK	chr2:188417857-188418364	IMR90	lung:	n/a	n/a
44	EP300	chr2:188417730-188418460	K562	blood:	n/a	chr2:188418088-188418102
45	MYBL2	chr2:188417633-188419992	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:188417833-188418515	HCT-116	colon:	n/a	chr2:188418316-188418327 chr2:188418314-188418327 chr2:188418314-188418325 chr2:188418316-188418325
47	ZMIZ1	chr2:188417840-188418454	K562	blood:	n/a	n/a
48	POLR2A	chr2:188418145-188418406	HepG2	liver:	n/a	n/a
49	GATA3	chr2:188417784-188418311	MCF-7	breast:	n/a	chr2:188418084-188418092 chr2:188418085-188418094
50	CEBPB	chr2:188417919-188418482	A549	lung:	n/a	chr2:188418316-188418327 chr2:188418314-188418327 chr2:188418314-188418325 chr2:188418316-188418325

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188350155..188352503-chr2:188415198..188418799,3	K562	blood:
2	chr2:188368955..188371760-chr2:188416561..188418698,2	K562	blood:

Variant related genes	Relation type
ENSG00000224063	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10179730	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187622	0.99[ASN][1000 genomes]
rs10931292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829086	0.98[ASN][1000 genomes]
rs16829090	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62172424	0.98[ASN][1000 genomes]
rs6434221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7560548	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188406200-188418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:188406800-188418600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:188406800-188422800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188410800-188420600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:188411000-188418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:188411200-188419000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:188412600-188418600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:188413400-188418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:188413600-188419800	Active TSS	Right Atrium	heart
10	chr2:188414600-188419600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:188415000-188431200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:188415600-188419400	Active TSS	Adipose Nuclei	Adipose
13	chr2:188415800-188419600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:188416000-188420400	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:188416200-188419800	Active TSS	HSMMtube	muscle
16	chr2:188416400-188418800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:188416400-188418800	Weak transcription	Left Ventricle	heart
18	chr2:188416400-188418800	Weak transcription	Lung	lung
19	chr2:188416400-188418800	Weak transcription	Pancreas	Pancrea
20	chr2:188416400-188419400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:188416400-188419400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:188416400-188419400	Active TSS	Fetal Lung	lung
23	chr2:188416400-188419400	Active TSS	A549	lung
24	chr2:188416400-188419600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:188416400-188419600	Active TSS	HSMM	muscle
26	chr2:188416400-188419600	Active TSS	K562	blood
27	chr2:188416400-188419800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:188416400-188419800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:188416400-188419800	Active TSS	Liver	Liver
30	chr2:188416400-188420000	Active TSS	Psoas Muscle	Psoas
31	chr2:188416400-188420400	Active TSS	NHLF	lung
32	chr2:188416600-188418800	Active TSS	HepG2	liver
33	chr2:188416600-188419400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:188416600-188419400	Active TSS	HUVEC	blood vessel
35	chr2:188416600-188419400	Active TSS	NH-A	brain
36	chr2:188416600-188419600	Active TSS	Hela-S3	cervix
37	chr2:188416800-188418400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:188417000-188419400	Active TSS	Osteobl	bone
39	chr2:188417000-188419600	Active TSS	NHDF-Ad	bronchial
40	chr2:188417200-188419200	Active TSS	Right Ventricle	heart
41	chr2:188417200-188419400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:188417200-188419400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:188417200-188419400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr2:188417200-188419600	Active TSS	Fetal Stomach	stomach
45	chr2:188417200-188419800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:188417400-188419400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:188417400-188419400	Active TSS	Fetal Intestine Large	intestine
48	chr2:188417400-188419400	Active TSS	Fetal Muscle Leg	muscle
49	chr2:188417400-188419600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:188417600-188418400	Active TSS	HUES64 Cell Line	embryonic stem cell

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