Variant report

Variant	rs11764489
Chromosome Location	chr7:112089859-112089860
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	ELF1	chr7:112089787-112091603	MCF-7	breast:	n/a	chr7:112090582-112090594 chr7:112090278-112090290 chr7:112090852-112090861
2	GABPA	chr7:112089777-112091325	MCF-7	breast:	n/a	chr7:112090449-112090458
3	FOSL1	chr7:112089313-112090042	K562	blood:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112089886-112089895 chr7:112089885-112089894
4	MAZ	chr7:112089830-112091684	IMR90	lung:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
5	TCF7L2	chr7:112089142-112091665	Hela-S3	cervix:	n/a	chr7:112089574-112089588 chr7:112089330-112089346 chr7:112089573-112089589 chr7:112089334-112089343 chr7:112089546-112089555 chr7:112089331-112089345 chr7:112089573-112089589 chr7:112089547-112089556 chr7:112089576-112089585 chr7:112089406-112089415 chr7:112089330-112089346 chr7:112089577-112089586
6	ZNF143	chr7:112089743-112091572	GM12878	blood:	n/a	chr7:112090298-112090317 chr7:112090358-112090376 chr7:112090982-112090997 chr7:112090912-112090921 chr7:112090851-112090861 chr7:112090294-112090312 chr7:112090910-112090919 chr7:112090296-112090305 chr7:112090301-112090316 chr7:112090979-112090998 chr7:112090975-112090984 chr7:112090037-112090056 chr7:112090977-112090986 chr7:112090903-112090921 chr7:112090975-112090993 chr7:112090365-112090374
7	POLR2A	chr7:112089448-112092907	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:112089557-112091609	MCF10A-Er-Src	breast:	n/a	n/a
9	CREB1	chr7:112089842-112091775	K562	blood:	n/a	n/a
10	MYC	chr7:112089116-112091490	MCF10A-Er-Src	breast:	n/a	chr7:112091407-112091417 chr7:112090448-112090458 chr7:112089253-112089263
11	JUN	chr7:112089401-112090578	HepG2	liver:	n/a	chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894
12	SMC3	chr7:112089429-112091621	Hela-S3	cervix:	n/a	n/a
13	JUND	chr7:112089365-112091754	K562	blood:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112090651-112090660 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894 chr7:112091342-112091352
14	MAX	chr7:112089844-112091557	SK-N-SH	brain:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
15	SMARCC2	chr7:112088921-112091774	Hela-S3	cervix:	n/a	chr7:112089546-112089555 chr7:112090912-112090921 chr7:112089565-112089574 chr7:112090975-112090984 chr7:112089547-112089556
16	PML	chr7:112089834-112091330	K562	blood:	n/a	n/a
17	FOSL2	chr7:112089225-112089894	SK-N-SH	brain:	n/a	chr7:112089544-112089555 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112089563-112089574 chr7:112089885-112089894
18	GABPA	chr7:112089620-112090579	HL-60	blood:	n/a	chr7:112090449-112090458
19	SIN3AK20	chr7:112089146-112091861	MCF-7	breast:	n/a	n/a
20	MAFK	chr7:112089497-112090109	H1-hESC	embryonic stem cell:	n/a	chr7:112089794-112089814 chr7:112089797-112089811
21	TCF7L2	chr7:112089136-112091368	HCT-116	colon:	n/a	chr7:112089574-112089588 chr7:112089330-112089346 chr7:112089573-112089589 chr7:112089334-112089343 chr7:112089546-112089555 chr7:112089331-112089345 chr7:112089573-112089589 chr7:112089547-112089556 chr7:112089576-112089585 chr7:112089406-112089415 chr7:112089330-112089346 chr7:112089577-112089586
22	MAX	chr7:112089813-112091704	K562	blood:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
23	FOSL2	chr7:112089284-112089899	A549	lung:	n/a	chr7:112089544-112089555 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112089563-112089574 chr7:112089886-112089895 chr7:112089885-112089894
24	JUND	chr7:112089216-112091490	MCF-7	breast:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112090651-112090660 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894 chr7:112091342-112091352
25	MYBL2	chr7:112089682-112091350	HepG2	liver:	n/a	n/a
26	RELA	chr7:112089683-112091494	GM10847	blood:	n/a	n/a
27	BHLHE40	chr7:112089841-112091449	GM12878	blood:	n/a	chr7:112090579-112090595
28	MAX	chr7:112089766-112091501	ECC-1	luminal epithelium:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
29	MAFF	chr7:112089451-112090578	HepG2	liver:	n/a	n/a
30	CHD2	chr7:112089389-112091686	Hela-S3	cervix:	n/a	chr7:112091005-112091015
31	SIN3A	chr7:112089787-112091659	GM12878	blood:	n/a	chr7:112091539-112091553 chr7:112090644-112090655
32	RFX5	chr7:112089335-112091592	Hela-S3	cervix:	n/a	chr7:112089624-112089637
33	TBL1XR1	chr7:112089428-112089872	K562	blood:	n/a	n/a
34	TCF12	chr7:112089846-112091425	A549	lung:	n/a	chr7:112090110-112090117
35	TCF12	chr7:112089225-112091485	ECC-1	luminal epithelium:	n/a	chr7:112090110-112090117
36	MAFK	chr7:112089590-112091145	IMR90	lung:	n/a	chr7:112089794-112089814 chr7:112089797-112089811
37	ARID3A	chr7:112089108-112089870	HepG2	liver:	n/a	n/a
38	REST	chr7:112089562-112092667	H1-neurons	neurons:	n/a	chr7:112092117-112092137 chr7:112091534-112091554 chr7:112090684-112090702 chr7:112091540-112091554
39	TEAD4	chr7:112089831-112091562	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr7:112089842-112091711	MCF-7	breast:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
41	POLR2A	chr7:112089503-112091708	GM12891	blood:	n/a	n/a
42	RELA	chr7:112089850-112091839	GM12891	blood:	n/a	n/a
43	CEBPB	chr7:112089411-112091691	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr7:112089800-112091684	GM12878	blood:	n/a	n/a
45	EBF1	chr7:112089608-112091293	GM12878	blood:	n/a	n/a
46	GATA3	chr7:112089842-112091433	MCF-7	breast:	n/a	chr7:112090961-112090969
47	MAX	chr7:112089377-112091691	Hela-S3	cervix:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
48	MXI1	chr7:112089314-112092845	IMR90	lung:	n/a	chr7:112091383-112091392 chr7:112090466-112090475
49	EP300	chr7:112089242-112091645	ECC-1	luminal epithelium:	n/a	chr7:112089547-112089556 chr7:112090852-112090861
50	MXI1	chr7:112089510-112091614	HepG2	liver:	n/a	chr7:112091383-112091392 chr7:112090466-112090475

No.	Distal block	Cell Line	Cell type
1	chr7:111977606..111981678-chr7:112089523..112092927,4	K562	blood:
2	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
3	chr7:112089814..112090626-chr9:34048477..34049016,2	NB4	blood:
4	chr7:108166013..108168393-chr7:112089454..112090983,3	K562	blood:
5	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
6	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
7	chr7:112089441..112091037-chr7:112120327..112123054,3	MCF-7	breast:
8	chr1:43824177..43825163-chr7:112089854..112090755,2	Hela-S3	cervix:
9	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
10	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
11	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
12	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
13	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
14	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
15	chr7:111988628..111990958-chr7:112088614..112090854,2	MCF-7	breast:
16	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:
17	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
18	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
19	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
20	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
21	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:
22	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
23	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
24	chr19:13264871..13267406-chr7:112089392..112090897,2	K562	blood:
25	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000180019	TF binding region
ENSG00000181016	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000198839	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000137073	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000234694	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000117399	Chromatin interaction
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1005659	0.85[ASN][1000 genomes]
rs1005661	0.85[ASN][1000 genomes]
rs1024568	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1024569	0.85[ASN][1000 genomes]
rs1024570	0.84[ASN][1000 genomes]
rs1024572	0.85[ASN][1000 genomes]
rs10260414	0.85[ASN][1000 genomes]
rs1029631	0.85[ASN][1000 genomes]
rs10500007	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1054043	0.85[ASN][1000 genomes]
rs10953712	0.84[ASN][1000 genomes]
rs10953713	0.85[ASN][1000 genomes]
rs11514940	0.85[ASN][1000 genomes]
rs11769604	0.84[ASN][1000 genomes]
rs12154294	0.85[ASN][1000 genomes]
rs12531101	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12531636	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12539263	0.85[ASN][1000 genomes]
rs1468457	0.85[ASN][1000 genomes]
rs1468458	0.85[ASN][1000 genomes]
rs17159684	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17159686	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1963308	0.85[ASN][1000 genomes]
rs2190587	0.85[ASN][1000 genomes]
rs2396541	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2396542	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095035	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34633971	0.85[ASN][1000 genomes]
rs36095669	0.85[ASN][1000 genomes]
rs3807206	0.85[ASN][1000 genomes]
rs3807210	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3807213	0.85[ASN][1000 genomes]
rs4275157	0.91[ASN][1000 genomes]
rs4727771	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4727774	0.85[ASN][1000 genomes]
rs4730548	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730549	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55954386	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56020731	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6944364	0.91[ASN][1000 genomes]
rs6945176	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6963343	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967593	0.93[ASN][1000 genomes]
rs6967894	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6968084	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6973615	0.85[ASN][1000 genomes]
rs73201469	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7455170	0.85[ASN][1000 genomes]
rs7777925	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817	0.85[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112083800-112090000	Weak transcription	Gastric	stomach
2	chr7:112087000-112090000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:112088400-112090200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:112088600-112090000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:112089000-112090200	Flanking Active TSS	NHEK	skin
6	chr7:112089000-112091200	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:112089200-112090000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:112089200-112090000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:112089200-112090200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:112089200-112092600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:112089400-112090000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:112089400-112090000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:112089400-112090000	Flanking Active TSS	Hela-S3	cervix
14	chr7:112089400-112090200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:112089400-112090200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:112089400-112090200	Flanking Active TSS	Dnd41	blood
17	chr7:112089400-112092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:112089600-112090000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:112089600-112090000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:112089600-112090000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:112089600-112090000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:112089600-112090000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr7:112089600-112090000	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr7:112089600-112090000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr7:112089600-112090000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr7:112089600-112090000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:112089600-112090000	Flanking Active TSS	Fetal Brain Female	brain
28	chr7:112089600-112090000	Flanking Active TSS	Fetal Heart	heart
29	chr7:112089600-112090000	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr7:112089600-112090000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr7:112089600-112090000	Flanking Active TSS	Thymus	Thymus
32	chr7:112089600-112090000	Enhancers	Spleen	Spleen
33	chr7:112089600-112090000	Flanking Active TSS	HepG2	liver
34	chr7:112089600-112090000	Flanking Active TSS	NHDF-Ad	bronchial
35	chr7:112089600-112090000	Flanking Active TSS	NHLF	lung
36	chr7:112089600-112090200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:112089600-112090200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:112089600-112090200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:112089600-112090200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:112089600-112090200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:112089600-112090200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:112089600-112090200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr7:112089600-112090200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:112089600-112090200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:112089600-112090200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr7:112089600-112090200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:112089600-112090200	Flanking Active TSS	Liver	Liver
48	chr7:112089600-112090200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr7:112089600-112090200	Flanking Active TSS	HMEC	breast
50	chr7:112089600-112090200	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

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