Variant report

Variant	rs17086002
Chromosome Location	chr9:72500655-72500656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 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	ZKSCAN1	chr9:72500614-72500972	Hela-S3	cervix:	n/a	n/a
7	FOS	chr9:72500427-72500766	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr9:72500293-72500989	ECC-1	luminal epithelium:	n/a	n/a
9	RXRA	chr9:72500391-72500861	SK-N-SH	brain:	n/a	n/a
10	MAX	chr9:72500369-72500830	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr9:72500499-72500859	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr9:72500352-72500812	A549	lung:	n/a	n/a
13	MAX	chr9:72500369-72500952	ECC-1	luminal epithelium:	n/a	n/a
14	NR3C1	chr9:72500424-72500837	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr9:72500174-72501100	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr9:72500422-72500820	SK-N-SH_RA	brain:	n/a	n/a
17	NR2F2	chr9:72500494-72500864	MCF-7	breast:	n/a	n/a
18	CEBPB	chr9:72500375-72500924	ECC-1	luminal epithelium:	n/a	n/a
19	REST	chr9:72500480-72500676	SK-N-SH	brain:	n/a	n/a
20	GABPA	chr9:72500446-72500846	A549	lung:	n/a	n/a
21	CEBPB	chr9:72500396-72500764	ECC-1	luminal epithelium:	n/a	n/a
22	RAD21	chr9:72500370-72500798	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr9:72500509-72500850	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr9:72500415-72500866	Hela-S3	cervix:	n/a	n/a
25	TEAD4	chr9:72500506-72500945	SK-N-SH	brain:	n/a	n/a
26	FOXA2	chr9:72500383-72500816	A549	lung:	n/a	n/a
27	EP300	chr9:72500314-72500871	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr9:72500201-72500922	A549	lung:	n/a	n/a
29	CHD2	chr9:72500396-72500867	Hela-S3	cervix:	n/a	n/a
30	USF2	chr9:72500544-72500804	Hela-S3	cervix:	n/a	chr9:72500655-72500666
31	FOS	chr9:72500565-72500765	MCF10A-Er-Src	breast:	n/a	n/a
32	NR3C1	chr9:72500362-72500815	A549	lung:	n/a	n/a
33	SP1	chr9:72500158-72501011	A549	lung:	n/a	n/a
34	EP300	chr9:72500247-72500973	A549	lung:	n/a	n/a
35	TCF12	chr9:72500382-72500747	A549	lung:	n/a	n/a
36	SRF	chr9:72500355-72500814	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr9:72500379-72500898	ECC-1	luminal epithelium:	n/a	n/a
38	MYC	chr9:72500511-72500913	MCF10A-Er-Src	breast:	n/a	n/a
39	BCL3	chr9:72500239-72500884	A549	lung:	n/a	n/a
40	GATA3	chr9:72500258-72501067	A549	lung:	n/a	n/a
41	FOS	chr9:72500427-72500818	MCF10A-Er-Src	breast:	n/a	n/a
42	ESR1	chr9:72500309-72500847	ECC-1	luminal epithelium:	n/a	n/a
43	TEAD4	chr9:72500494-72500944	A549	lung:	n/a	n/a
44	CEBPB	chr9:72500443-72500828	A549	lung:	n/a	n/a
45	TEAD4	chr9:72500500-72500972	H1-hESC	embryonic stem cell:	n/a	n/a
46	ESR1	chr9:72500382-72500840	ECC-1	luminal epithelium:	n/a	n/a
47	TCF12	chr9:72500214-72500998	ECC-1	luminal epithelium:	n/a	n/a
48	FOXA2	chr9:72500361-72500749	A549	lung:	n/a	n/a
49	NFIC	chr9:72500196-72501031	ECC-1	luminal epithelium:	n/a	n/a
50	STAT3	chr9:72500441-72500867	Hela-S3	cervix:	n/a	chr9:72500694-72500702

No data

Variant related genes	Relation type
RN7SL570P	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11793754	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12686255	1.00[AFR][1000 genomes]
rs17085936	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62569932	1.00[AFR][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:37 , 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	chr9:72499800-72501600	Enhancers	Hela-S3	cervix
8	chr9:72499800-72501600	Enhancers	HUVEC	blood vessel
9	chr9:72499800-72501600	Enhancers	NHEK	skin
10	chr9:72500000-72501200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:72500000-72501200	Enhancers	Liver	Liver
12	chr9:72500200-72500800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:72500200-72501000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:72500200-72501000	Enhancers	Osteobl	bone
15	chr9:72500200-72501200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr9:72500200-72501200	Enhancers	HSMM	muscle
17	chr9:72500400-72500800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:72500400-72500800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:72500400-72500800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:72500400-72501000	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:72500400-72501000	Enhancers	Brain Hippocampus Middle	brain
22	chr9:72500400-72501000	Enhancers	NH-A	brain
23	chr9:72500400-72501200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:72500400-72501200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:72500400-72501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:72500400-72501200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:72500400-72501200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr9:72500400-72501200	Enhancers	Brain Anterior Caudate	brain
29	chr9:72500400-72501600	Enhancers	Brain Angular Gyrus	brain
30	chr9:72500600-72500800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:72500600-72501000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:72500600-72501000	Flanking Active TSS	A549	lung
33	chr9:72500600-72501200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr9:72500600-72501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:72500600-72501400	Enhancers	Fetal Heart	heart
36	chr9:72500600-72501600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:72500600-72508000	Weak transcription	Right Ventricle	heart

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