Variant report

Variant	rs9285051
Chromosome Location	chr9:72500463-72500464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr9:72500318-72501035	SK-N-SH	brain:	n/a	n/a
2	CEBPB	chr9:72500311-72500919	A549	lung:	n/a	n/a
3	RXRA	chr9:72500398-72501019	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr9:72500287-72500998	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr9:72500354-72501011	A549	lung:	n/a	n/a
6	FOS	chr9:72500427-72500766	MCF10A-Er-Src	breast:	n/a	n/a
7	TEAD4	chr9:72500293-72500989	ECC-1	luminal epithelium:	n/a	n/a
8	RXRA	chr9:72500391-72500861	SK-N-SH	brain:	n/a	n/a
9	MAX	chr9:72500369-72500830	Hela-S3	cervix:	n/a	n/a
10	REST	chr9:72500352-72500812	A549	lung:	n/a	n/a
11	MAX	chr9:72500369-72500952	ECC-1	luminal epithelium:	n/a	n/a
12	NR3C1	chr9:72500424-72500837	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr9:72500174-72501100	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr9:72500422-72500820	SK-N-SH_RA	brain:	n/a	n/a
15	CEBPB	chr9:72500375-72500924	ECC-1	luminal epithelium:	n/a	n/a
16	GABPA	chr9:72500446-72500846	A549	lung:	n/a	n/a
17	CEBPB	chr9:72500396-72500764	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr9:72500370-72500798	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr9:72500415-72500866	Hela-S3	cervix:	n/a	n/a
20	FOXA2	chr9:72500383-72500816	A549	lung:	n/a	n/a
21	EP300	chr9:72500314-72500871	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr9:72500201-72500922	A549	lung:	n/a	n/a
23	CHD2	chr9:72500396-72500867	Hela-S3	cervix:	n/a	n/a
24	NR3C1	chr9:72500362-72500815	A549	lung:	n/a	n/a
25	SP1	chr9:72500158-72501011	A549	lung:	n/a	n/a
26	EP300	chr9:72500247-72500973	A549	lung:	n/a	n/a
27	TCF12	chr9:72500382-72500747	A549	lung:	n/a	n/a
28	SRF	chr9:72500355-72500814	ECC-1	luminal epithelium:	n/a	n/a
29	EP300	chr9:72500379-72500898	ECC-1	luminal epithelium:	n/a	n/a
30	BCL3	chr9:72500239-72500884	A549	lung:	n/a	n/a
31	GATA3	chr9:72500258-72501067	A549	lung:	n/a	n/a
32	FOS	chr9:72500427-72500818	MCF10A-Er-Src	breast:	n/a	n/a
33	ESR1	chr9:72500309-72500847	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr9:72500443-72500828	A549	lung:	n/a	n/a
35	ESR1	chr9:72500382-72500840	ECC-1	luminal epithelium:	n/a	n/a
36	TCF12	chr9:72500214-72500998	ECC-1	luminal epithelium:	n/a	n/a
37	FOXA2	chr9:72500361-72500749	A549	lung:	n/a	n/a
38	NFIC	chr9:72500196-72501031	ECC-1	luminal epithelium:	n/a	n/a
39	STAT3	chr9:72500441-72500867	Hela-S3	cervix:	n/a	chr9:72500694-72500702
40	EP300	chr9:72500427-72500854	Hela-S3	cervix:	n/a	n/a
41	SP1	chr9:72500246-72500837	A549	lung:	n/a	n/a
42	NFIC	chr9:72500161-72501073	ECC-1	luminal epithelium:	n/a	n/a
43	GATA3	chr9:72500409-72501014	SK-N-SH	brain:	n/a	n/a
44	FOSL2	chr9:72500332-72500816	A549	lung:	n/a	n/a
45	NFIC	chr9:72500325-72500966	SK-N-SH	brain:	n/a	n/a
46	STAT3	chr9:72500329-72500818	MCF10A-Er-Src	breast:	n/a	chr9:72500694-72500702
47	NR3C1	chr9:72500420-72500803	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr9:72500326-72500917	ECC-1	luminal epithelium:	n/a	n/a
49	BCL3	chr9:72500373-72500859	A549	lung:	n/a	n/a
50	TCF12	chr9:72500178-72501057	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
RN7SL570P	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10115144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117766	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122385	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027288	0.95[ASN][1000 genomes]
rs10780684	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780685	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868224	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868225	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868234	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1119563	0.95[ASN][1000 genomes]
rs1119564	0.95[ASN][1000 genomes]
rs1389123	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1389124	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1389126	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1493055	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1586915	0.95[ASN][1000 genomes]
rs1826476	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873824	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1907960	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1907962	0.82[ASN][1000 genomes]
rs2035920	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2035921	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2101686	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237236	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4258059	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4363263	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4381006	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4381007	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4407955	0.95[ASN][1000 genomes]
rs4475565	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584204	0.95[ASN][1000 genomes]
rs4744577	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744944	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4744945	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744946	0.95[ASN][1000 genomes]
rs4744950	0.95[ASN][1000 genomes]
rs4744951	0.95[ASN][1000 genomes]
rs4744952	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816194	0.95[ASN][1000 genomes]
rs6559830	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559831	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559835	0.95[ASN][1000 genomes]
rs6559841	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559842	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559843	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021905	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022703	0.95[ASN][1000 genomes]
rs7025411	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026857	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7028323	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042001	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7043409	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043623	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7045208	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047265	0.95[ASN][1000 genomes]
rs7465920	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766003	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868466	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7875361	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990865	0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv471310	chr9:72479046-72508302	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614580	chr9:72479046-72508302	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv466416	chr9:72479046-72513240	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv614581	chr9:72479046-72513240	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72498400-72506800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:72499200-72501200	Enhancers	Psoas Muscle	Psoas
3	chr9:72499200-72501600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:72499200-72501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:72499200-72502200	Enhancers	HMEC	breast
6	chr9:72499400-72505400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:72499800-72500600	Enhancers	A549	lung
8	chr9:72499800-72501600	Enhancers	Hela-S3	cervix
9	chr9:72499800-72501600	Enhancers	HUVEC	blood vessel
10	chr9:72499800-72501600	Enhancers	NHEK	skin
11	chr9:72500000-72501200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:72500000-72501200	Enhancers	Liver	Liver
13	chr9:72500200-72500800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72500200-72501000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:72500200-72501000	Enhancers	Osteobl	bone
16	chr9:72500200-72501200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr9:72500200-72501200	Enhancers	HSMM	muscle
18	chr9:72500400-72500600	Enhancers	Right Ventricle	heart
19	chr9:72500400-72500800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:72500400-72500800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:72500400-72500800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:72500400-72501000	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:72500400-72501000	Enhancers	Brain Hippocampus Middle	brain
24	chr9:72500400-72501000	Enhancers	NH-A	brain
25	chr9:72500400-72501200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:72500400-72501200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:72500400-72501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:72500400-72501200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:72500400-72501200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:72500400-72501200	Enhancers	Brain Anterior Caudate	brain
31	chr9:72500400-72501600	Enhancers	Brain Angular Gyrus	brain

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