Variant report

Variant	rs1894075
Chromosome Location	chr11:72983359-72983360
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	ATF3	chr11:72982904-72983567	A549	lung:	n/a	n/a
2	MAFF	chr11:72983056-72983506	HepG2	liver:	n/a	chr11:72983241-72983259
3	IKZF1	chr11:72982782-72983458	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:72983295-72983383	A549	lung:	n/a	n/a
5	TFAP2C	chr11:72982938-72983389	Hela-S3	cervix:	n/a	chr11:72983156-72983171
6	SPI1	chr11:72983248-72983466	HL-60	blood:	n/a	n/a
7	SP1	chr11:72982747-72983901	A549	lung:	n/a	chr11:72983727-72983741 chr11:72983730-72983742 chr11:72983732-72983741 chr11:72983647-72983661 chr11:72983732-72983741 chr11:72983731-72983740
8	CTCF	chr11:72983300-72983450	SK-N-SH_RA	brain:	n/a	n/a
9	USF1	chr11:72982952-72983495	A549	lung:	n/a	n/a
10	GATA3	chr11:72982903-72983581	MCF-7	breast:	n/a	chr11:72982906-72982915
11	FOSL2	chr11:72982763-72983976	A549	lung:	n/a	chr11:72983240-72983251
12	POLR2A	chr11:72983062-72983484	A549	lung:	n/a	n/a
13	SP1	chr11:72982811-72983889	A549	lung:	n/a	chr11:72983727-72983741 chr11:72983730-72983742 chr11:72983732-72983741 chr11:72983647-72983661 chr11:72983732-72983741 chr11:72983731-72983740
14	MAFK	chr11:72983043-72983436	HepG2	liver:	n/a	n/a
15	TAF1	chr11:72982956-72983873	A549	lung:	n/a	n/a
16	FOXA1	chr11:72982954-72983396	HepG2	liver:	n/a	n/a
17	JUND	chr11:72983086-72983372	K562	blood:	n/a	chr11:72983241-72983252
18	FOS	chr11:72983054-72983402	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA3	chr11:72982717-72984003	A549	lung:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
20	GATA3	chr11:72982849-72983529	MCF-7	breast:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
21	POLR2A	chr11:72983077-72983827	A549	lung:	n/a	n/a
22	FOXA2	chr11:72982963-72983482	A549	lung:	n/a	n/a
23	FOS	chr11:72983060-72983385	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr11:72982807-72983378	SK-N-SH_RA	brain:	n/a	n/a
25	STAT3	chr11:72983082-72983361	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr11:72982736-72984097	A549	lung:	n/a	n/a
27	GATA3	chr11:72982795-72983458	T-47D	breast:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
28	MAFK	chr11:72983072-72983380	IMR90	lung:	n/a	n/a
29	FOS	chr11:72983111-72983395	MCF10A-Er-Src	breast:	n/a	n/a
30	SIN3AK20	chr11:72982727-72983644	MCF-7	breast:	n/a	n/a
31	BACH1	chr11:72983042-72983445	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:72982810-72983965	A549	lung:	n/a	chr11:72983729-72983739
33	EP300	chr11:72982796-72983405	SK-N-SH_RA	brain:	n/a	n/a
34	BCL3	chr11:72982915-72983823	A549	lung:	n/a	n/a
35	FOXA1	chr11:72983033-72983438	HepG2	liver:	n/a	n/a
36	MXI1	chr11:72982078-72985057	SK-N-SH	brain:	n/a	n/a
37	BRCA1	chr11:72983257-72983412	HepG2	liver:	n/a	n/a
38	FOS	chr11:72983053-72983415	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr11:72982825-72983491	A549	lung:	n/a	n/a
40	JUND	chr11:72983014-72983408	HepG2	liver:	n/a	chr11:72983241-72983252
41	CREB1	chr11:72982961-72983843	A549	lung:	n/a	n/a
42	SPI1	chr11:72983168-72983465	GM12891	blood:	n/a	n/a
43	MAFK	chr11:72983059-72983381	K562	blood:	n/a	n/a
44	JUND	chr11:72983010-72983642	A549	lung:	n/a	chr11:72983241-72983252
45	EP300	chr11:72979726-72985647	SK-N-SH	brain:	n/a	chr11:72985619-72985633 chr11:72984138-72984152 chr11:72981442-72981455 chr11:72984140-72984154 chr11:72984139-72984153 chr11:72981929-72981945
46	EP300	chr11:72982839-72983425	T-47D	breast:	n/a	n/a
47	HDAC2	chr11:72982835-72983568	MCF-7	breast:	n/a	n/a
48	MAX	chr11:72983122-72983764	NB4	blood:	n/a	chr11:72983729-72983739
49	GATA2	chr11:72982000-72983436	SH-SY5Y	brain:	n/a	chr11:72982906-72982915 chr11:72982897-72982914
50	SPI1	chr11:72983121-72983636	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
2	chr11:72974009..72977358-chr11:72978806..72983362,4	MCF-7	breast:
3	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:

Variant related genes	Relation type
P2RY6	TF binding region
ENSG00000171631	Chromatin interaction
ENSG00000257038	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10898913	0.95[ASN][1000 genomes]
rs10898914	0.95[ASN][1000 genomes]
rs10898915	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235705	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235706	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235707	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363628	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790447	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790863	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794405	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34023835	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963948	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67897720	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106903	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930891	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942649	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.86[EUR][1000 genomes];1.00[ASN][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72976400-72984800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:72977200-72991600	Weak transcription	Osteobl	bone
3	chr11:72978000-72986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:72979000-72984200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:72979800-72984000	Enhancers	Spleen	Spleen
6	chr11:72980000-72983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:72980400-72983400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr11:72980400-72983600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:72980400-72987200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:72980400-72998400	Weak transcription	Right Atrium	heart
11	chr11:72980600-72984000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:72981200-72985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:72981200-72991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:72981400-72983400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:72981600-72984000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:72981600-72984400	Weak transcription	Lung	lung
18	chr11:72981800-72983400	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:72981800-72984000	Enhancers	Fetal Heart	heart
20	chr11:72982000-72984400	Weak transcription	Fetal Lung	lung
21	chr11:72982000-72984800	Weak transcription	Small Intestine	intestine
22	chr11:72982200-72983400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:72982200-72983400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:72982400-72983400	Flanking Active TSS	HepG2	liver
25	chr11:72982600-72986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:72982800-72983400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:72982800-72983400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:72982800-72983400	Enhancers	Fetal Intestine Large	intestine
29	chr11:72982800-72983600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:72982800-72983600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:72982800-72983600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:72982800-72983600	Bivalent Enhancer	K562	blood
33	chr11:72982800-72983600	Enhancers	NHEK	skin
34	chr11:72982800-72983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:72982800-72983800	Enhancers	Hela-S3	cervix
36	chr11:72982800-72983800	Enhancers	HMEC	breast
37	chr11:72982800-72984800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:72982800-72986000	Flanking Active TSS	A549	lung
39	chr11:72982800-72986400	Enhancers	HSMMtube	muscle
40	chr11:72983000-72983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:72983000-72983400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:72983000-72983400	Enhancers	Adipose Nuclei	Adipose
43	chr11:72983000-72983400	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:72983000-72983400	Enhancers	Left Ventricle	heart
45	chr11:72983000-72983400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:72983000-72983400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:72983000-72983600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:72983000-72983600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:72983000-72983800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:72983000-72983800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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