Variant report

Variant	rs1512714
Chromosome Location	chr9:2570768-2570769
allele	C/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	KAP1	chr9:2570558-2571524	HEK293	kidney:	n/a	n/a
2	BHLHE40	chr9:2570762-2571109	K562	blood:	n/a	n/a
3	TCF12	chr9:2570476-2571132	A549	lung:	n/a	n/a
4	TBP	chr9:2570558-2571139	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr9:2570625-2571019	GM12878	blood:	n/a	n/a
6	TCF12	chr9:2570517-2571141	SK-N-SH	brain:	n/a	n/a
7	CBX3	chr9:2570525-2571114	HCT-116	colon:	n/a	n/a
8	TFAP2C	chr9:2570622-2571453	Hela-S3	cervix:	n/a	n/a
9	STAT1	chr9:2570531-2571412	Hela-S3	cervix:	n/a	chr9:2571015-2571022 chr9:2570777-2570786
10	EP300	chr9:2570583-2571075	SK-N-SH_RA	brain:	n/a	chr9:2570776-2570785
11	FOSL2	chr9:2570603-2571119	MCF-7	breast:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2571006-2571018 chr9:2570776-2570786 chr9:2570776-2570786
12	EP300	chr9:2570558-2571099	ECC-1	luminal epithelium:	n/a	chr9:2570776-2570785
13	SP1	chr9:2570573-2571446	A549	lung:	n/a	n/a
14	MAX	chr9:2570643-2571090	NB4	blood:	n/a	n/a
15	SIN3AK20	chr9:2570529-2571149	HCT-116	colon:	n/a	n/a
16	FOS	chr9:2570617-2571088	MCF10A-Er-Src	breast:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2571006-2571018 chr9:2570776-2570786 chr9:2570776-2570786
17	USF2	chr9:2570630-2571100	Hela-S3	cervix:	n/a	n/a
18	NR3C1	chr9:2570627-2571038	A549	lung:	n/a	n/a
19	EP300	chr9:2570614-2571092	Hela-S3	cervix:	n/a	chr9:2570776-2570785
20	RAD21	chr9:2570571-2571001	SK-N-SH_RA	brain:	n/a	n/a
21	ZKSCAN1	chr9:2570615-2571412	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr9:2570499-2571122	MCF-7	breast:	n/a	chr9:2571078-2571099
23	MAX	chr9:2570612-2571379	Hela-S3	cervix:	n/a	n/a
24	EP300	chr9:2570631-2571063	MCF-7	breast:	n/a	chr9:2570776-2570785
25	EBF1	chr9:2570552-2570986	GM12878	blood:	n/a	n/a
26	SPI1	chr9:2570531-2571088	HL-60	blood:	n/a	n/a
27	CTCF	chr9:2570660-2570810	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr9:2570650-2570790	Pancreas_OC	pancreas:	n/a	n/a
29	POLR2A	chr9:2570702-2570988	HCT-116	colon:	n/a	n/a
30	PBX3	chr9:2570584-2571101	SK-N-SH	brain:	n/a	n/a
31	RAD21	chr9:2570518-2571188	Hela-S3	cervix:	n/a	n/a
32	EP300	chr9:2570556-2571044	GM12878	blood:	n/a	chr9:2570776-2570785
33	MEF2C	chr9:2570564-2571077	GM12878	blood:	n/a	chr9:2570777-2570785 chr9:2570878-2570899 chr9:2570883-2570892
34	SP1	chr9:2570697-2571061	GM12878	blood:	n/a	n/a
35	CEBPB	chr9:2570731-2570872	HepG2	liver:	n/a	n/a
36	TCF7L2	chr9:2570722-2570998	MCF-7	breast:	n/a	chr9:2570777-2570786
37	FOSL2	chr9:2570580-2571049	HepG2	liver:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2571006-2571018 chr9:2570776-2570786 chr9:2570776-2570786
38	GTF2F1	chr9:2570589-2571253	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr9:2570757-2570957	K562	blood:	n/a	n/a
40	JUND	chr9:2570572-2571057	SK-N-SH	brain:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2571006-2571018 chr9:2570775-2570786 chr9:2570776-2570786 chr9:2570776-2570786
41	CTCF	chr9:2570669-2570802	Hela-S3	cervix:	n/a	n/a
42	BATF	chr9:2570619-2571066	GM12878	blood:	n/a	n/a
43	MAFK	chr9:2570633-2571060	Hela-S3	cervix:	n/a	n/a
44	JUND	chr9:2570615-2570920	HepG2	liver:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2570775-2570786 chr9:2570776-2570786 chr9:2570776-2570786
45	GATA3	chr9:2570576-2571241	A549	lung:	n/a	chr9:2571078-2571099
46	SIN3AK20	chr9:2570538-2571136	MCF-7	breast:	n/a	n/a
47	POLR2A	chr9:2570537-2571168	HL-60	blood:	n/a	n/a
48	TCF12	chr9:2570476-2571131	SK-N-SH	brain:	n/a	n/a
49	IKZF1	chr9:2570560-2570955	GM12878	blood:	n/a	n/a
50	FOSL1	chr9:2570513-2571139	HCT-116	colon:	n/a	chr9:2570776-2570786 chr9:2570777-2570786 chr9:2571006-2571018 chr9:2570776-2570786 chr9:2570776-2570786

Variant related genes	Relation type
ENSG00000236404	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10122483	1.00[CEU][hapmap]
rs10125277	1.00[CEU][hapmap]
rs10966849	1.00[CEU][hapmap]
rs10966978	1.00[CEU][hapmap]
rs10967690	1.00[CEU][hapmap]
rs12001250	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12336260	1.00[CEU][hapmap]
rs12340965	1.00[CEU][hapmap]
rs1512715	0.81[ASW][hapmap];0.87[YRI][hapmap]
rs16907905	1.00[CEU][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7038174	1.00[CEU][hapmap]
rs763578	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7848733	1.00[CEU][hapmap]
rs7863601	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv466078	chr9:2218129-2621030	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613126	chr9:2218129-2621030	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv529508	chr9:2267812-2684272	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv466081	chr9:2353522-2596783	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv613132	chr9:2353522-2596783	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv892066	chr9:2397564-2589739	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv916750	chr9:2430846-2826706	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv531564	chr9:2452325-2700375	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1033424	chr9:2508296-2575408	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1029876	chr9:2526760-2633562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv892068	chr9:2543888-2589739	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2559800-2577000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:2560800-2570800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:2566200-2570800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:2566400-2571800	Enhancers	Adipose Nuclei	Adipose
5	chr9:2567000-2571200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:2567000-2571800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:2567600-2577600	Enhancers	Fetal Heart	heart
8	chr9:2568400-2570800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:2568400-2570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:2568400-2570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:2568600-2570800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:2568600-2576000	Enhancers	Ovary	ovary
13	chr9:2569000-2571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:2569000-2572400	Weak transcription	Left Ventricle	heart
15	chr9:2569000-2575400	Weak transcription	Right Ventricle	heart
16	chr9:2569200-2571000	Weak transcription	HSMMtube	muscle
17	chr9:2569200-2571200	Weak transcription	Psoas Muscle	Psoas
18	chr9:2569400-2571000	Weak transcription	HSMM	muscle
19	chr9:2569600-2571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:2569800-2570800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:2570000-2571000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:2570000-2572000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr9:2570200-2571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:2570600-2570800	Active TSS	Right Atrium	heart
25	chr9:2570600-2570800	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr9:2570600-2570800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr9:2570600-2570800	Flanking Active TSS	A549	lung
28	chr9:2570600-2571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:2570600-2571000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:2570600-2571000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr9:2570600-2571000	Enhancers	K562	blood
32	chr9:2570600-2571000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr9:2570600-2571200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:2570600-2571400	Enhancers	Aorta	Aorta
35	chr9:2570600-2571400	Enhancers	Brain Hippocampus Middle	brain
36	chr9:2570600-2571400	Enhancers	Brain Substantia Nigra	brain
37	chr9:2570600-2571400	Enhancers	Duodenum Mucosa	Duodenum
38	chr9:2570600-2571400	Enhancers	Esophagus	oesophagus
39	chr9:2570600-2571400	Enhancers	Fetal Stomach	stomach
40	chr9:2570600-2571400	Enhancers	Gastric	stomach
41	chr9:2570600-2571400	Enhancers	GM12878-XiMat	blood
42	chr9:2570600-2571400	Enhancers	NH-A	brain
43	chr9:2570600-2571400	Enhancers	NHLF	lung
44	chr9:2570600-2571600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:2570600-2571600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:2570600-2571600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:2570600-2571600	Enhancers	Liver	Liver
48	chr9:2570600-2571600	Enhancers	Colon Smooth Muscle	Colon
49	chr9:2570600-2571600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr9:2570600-2571600	Enhancers	Fetal Intestine Small	intestine

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