Variant report

Variant	rs1601286
Chromosome Location	chr4:85735765-85735766
allele	G/T
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	MAX	chr4:85735565-85735858	NB4	blood:	n/a	n/a
2	CEBPB	chr4:85735363-85735983	HCT-116	colon:	n/a	chr4:85735673-85735684
3	FOS	chr4:85735520-85735924	K562	blood:	n/a	chr4:85735703-85735714
4	GATA3	chr4:85735424-85735991	SK-N-SH	brain:	n/a	n/a
5	EP300	chr4:85735503-85735876	K562	blood:	n/a	n/a
6	JUND	chr4:85735331-85735927	K562	blood:	n/a	chr4:85735703-85735714
7	JUN	chr4:85735094-85735973	K562	blood:	n/a	chr4:85735670-85735683
8	MYC	chr4:85735528-85736010	MCF10A-Er-Src	breast:	n/a	n/a
9	TEAD4	chr4:85735348-85735907	K562	blood:	n/a	n/a
10	CEBPB	chr4:85735552-85735846	K562	blood:	n/a	chr4:85735673-85735684
11	FOSL1	chr4:85735523-85735890	K562	blood:	n/a	chr4:85735703-85735714
12	CEBPB	chr4:85735476-85735839	MCF-7	breast:	n/a	chr4:85735673-85735684
13	CEBPB	chr4:85735460-85735875	A549	lung:	n/a	chr4:85735673-85735684
14	FOXA1	chr4:85735547-85735900	HepG2	liver:	n/a	n/a
15	TCF12	chr4:85735407-85736053	SK-N-SH	brain:	n/a	n/a
16	JUND	chr4:85735481-85736004	SK-N-SH	brain:	n/a	chr4:85735703-85735714
17	FOSL1	chr4:85735617-85735769	K562	blood:	n/a	chr4:85735703-85735714
18	TCF12	chr4:85735299-85735881	A549	lung:	n/a	n/a
19	JUND	chr4:85735455-85735893	Hela-S3	cervix:	n/a	chr4:85735703-85735714
20	CEBPB	chr4:85735518-85735865	HepG2	liver:	n/a	chr4:85735673-85735684
21	STAT3	chr4:85735576-85735903	MCF10A-Er-Src	breast:	n/a	n/a
22	JUND	chr4:85735363-85736045	SK-N-SH	brain:	n/a	chr4:85735703-85735714
23	CBX3	chr4:85735476-85735876	HCT-116	colon:	n/a	n/a
24	FOXA2	chr4:85735500-85735912	A549	lung:	n/a	n/a
25	FOSL2	chr4:85735471-85736042	SK-N-SH	brain:	n/a	chr4:85735704-85735715
26	FOSL2	chr4:85735504-85735843	SK-N-SH	brain:	n/a	chr4:85735704-85735715
27	EP300	chr4:85735491-85735855	Hela-S3	cervix:	n/a	n/a
28	MYC	chr4:85735417-85735918	MCF10A-Er-Src	breast:	n/a	n/a
29	CEBPB	chr4:85735479-85735869	A549	lung:	n/a	chr4:85735673-85735684
30	STAT3	chr4:85735600-85735931	MCF10A-Er-Src	breast:	n/a	n/a
31	JUND	chr4:85735379-85735977	HCT-116	colon:	n/a	chr4:85735703-85735714
32	GATA2	chr4:85735352-85735905	HUVEC	blood vessel:	n/a	n/a
33	ATF3	chr4:85735393-85735966	HCT-116	colon:	n/a	n/a
34	FOS	chr4:85735355-85735926	HUVEC	blood vessel:	n/a	chr4:85735703-85735714
35	FOSL2	chr4:85735503-85735807	A549	lung:	n/a	chr4:85735704-85735715
36	CEBPB	chr4:85735480-85735881	IMR90	lung:	n/a	chr4:85735673-85735684
37	FOSL2	chr4:85735454-85735905	MCF-7	breast:	n/a	chr4:85735704-85735715
38	E2F4	chr4:85735518-85736008	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF12	chr4:85735343-85735979	SK-N-SH	brain:	n/a	n/a
40	UBTF	chr4:85735560-85735769	K562	blood:	n/a	n/a
41	JUND	chr4:85735501-85735849	A549	lung:	n/a	chr4:85735703-85735714
42	JUND	chr4:85735388-85735934	HCT-116	colon:	n/a	chr4:85735703-85735714
43	MAX	chr4:85735379-85735996	HCT-116	colon:	n/a	n/a
44	CEBPB	chr4:85735365-85736025	HCT-116	colon:	n/a	chr4:85735673-85735684
45	MAX	chr4:85735598-85735838	K562	blood:	n/a	n/a
46	CEBPB	chr4:85735490-85735829	K562	blood:	n/a	chr4:85735673-85735684
47	MAZ	chr4:85735558-85735828	Hela-S3	cervix:	n/a	n/a
48	JUN	chr4:85735516-85735938	K562	blood:	n/a	chr4:85735670-85735683
49	FOSL1	chr4:85735390-85735981	HCT-116	colon:	n/a	chr4:85735703-85735714
50	MAX	chr4:85735562-85735894	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85735628..85737387-chr4:85739794..85742256,2	MCF-7	breast:
2	chr4:85709048..85711157-chr4:85734540..85736215,2	K562	blood:

Variant related genes	Relation type
WDFY3	TF binding region

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10516726	0.88[ASN][1000 genomes]
rs10516728	0.88[ASN][1000 genomes]
rs10516729	0.85[CHD][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11724870	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726635	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728145	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730137	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs11936391	0.91[ASN][1000 genomes]
rs11936719	0.97[ASN][1000 genomes]
rs11940030	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947757	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[ASN][1000 genomes]
rs1463607	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473456	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484662	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16995917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009212	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009245	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[ASN][1000 genomes]
rs17009286	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994227	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747681	0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs7681742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692204	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs894533	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
3	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:85709000-85769600	Weak transcription	Right Ventricle	heart
9	chr4:85709000-85781600	Weak transcription	Esophagus	oesophagus
10	chr4:85709200-85749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:85709200-85770200	Weak transcription	Psoas Muscle	Psoas
12	chr4:85722200-85787600	Weak transcription	Gastric	stomach
13	chr4:85722400-85751800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:85722400-85762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:85723000-85742000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:85723000-85751200	Weak transcription	Fetal Heart	heart
17	chr4:85723000-85754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:85723000-85821000	Weak transcription	Pancreas	Pancrea
19	chr4:85723200-85749600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:85723200-85770400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:85723200-85777000	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:85723400-85738800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:85724000-85749400	Weak transcription	Fetal Intestine Small	intestine
24	chr4:85724000-85752000	Weak transcription	Fetal Stomach	stomach
25	chr4:85724000-85781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:85724000-85786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:85724200-85761600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:85724200-85769600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:85724600-85753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:85724800-85739200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:85725200-85739600	Weak transcription	Brain Germinal Matrix	brain
32	chr4:85725800-85738000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:85727800-85783200	Weak transcription	Colonic Mucosa	Colon
34	chr4:85729800-85738400	Weak transcription	Left Ventricle	heart
35	chr4:85729800-85755800	Weak transcription	Ovary	ovary
36	chr4:85730800-85738400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:85730800-85740000	Weak transcription	Fetal Lung	lung
38	chr4:85730800-85760400	Weak transcription	Fetal Kidney	kidney
39	chr4:85731400-85737400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:85731400-85738600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:85731400-85739400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:85731400-85740200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:85731400-85740400	Weak transcription	Brain Anterior Caudate	brain
44	chr4:85731400-85749600	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:85731400-85751400	Weak transcription	Fetal Brain Female	brain
46	chr4:85731400-85769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:85731400-85791600	Weak transcription	Lung	lung
48	chr4:85731600-85736200	Weak transcription	Liver	Liver
49	chr4:85731600-85738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:85731600-85742200	Weak transcription	HepG2	liver

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