Variant report

Variant	nsv519131
Chromosome Location	chr9:117796986-117804667
allele	n/a
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	ATF2	chr9:117798018-117798987	GM12878	blood:	n/a	n/a
2	ATF2	chr9:117797967-117798956	GM12878	blood:	n/a	n/a
3	BATF	chr9:117798126-117798912	GM12878	blood:	n/a	chr9:117798656-117798666 chr9:117798655-117798666
4	BATF	chr9:117798141-117799100	GM12878	blood:	n/a	chr9:117798656-117798666 chr9:117798655-117798666
5	BCL11A	chr9:117798421-117798850	GM12878	blood:	n/a	chr9:117798658-117798667
6	BCL11A	chr9:117798097-117798914	GM12878	blood:	n/a	chr9:117798658-117798667
7	BCL3	chr9:117798295-117798836	GM12878	blood:	n/a	chr9:117798658-117798667
8	BCLAF1	chr9:117798089-117798882	GM12878	blood:	n/a	chr9:117798658-117798667
9	BCLAF1	chr9:117798160-117798885	GM12878	blood:	n/a	chr9:117798658-117798667
10	BHLHE40	chr9:117798231-117798819	GM12878	blood:	n/a	n/a
11	CEBPB	chr9:117797972-117798585	HCT-116	colon:	n/a	n/a
12	CEBPB	chr9:117798421-117798744	GM12878	blood:	n/a	n/a
13	CEBPB	chr9:117798104-117798423	K562	blood:	n/a	n/a
14	CEBPB	chr9:117798138-117798395	K562	blood:	n/a	n/a
15	CEBPB	chr9:117798086-117798454	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:117798112-117798991	GM12878	blood:	n/a	n/a
17	CEBPB	chr9:117798099-117798357	K562	blood:	n/a	n/a
18	CEBPB	chr9:117797944-117798630	HCT-116	colon:	n/a	n/a
19	CEBPB	chr9:117798096-117798421	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr9:117798175-117799161	GM12878	blood:	n/a	n/a
21	CHD2	chr9:117798402-117798817	GM12878	blood:	n/a	n/a
22	CREB1	chr9:117798017-117798971	GM12878	blood:	n/a	n/a
23	CTCF	chr9:117798920-117799070	GM12866	blood:	n/a	n/a
24	CUX1	chr9:117798380-117798930	GM12878	blood:	n/a	n/a
25	EBF1	chr9:117798106-117799218	GM12878	blood:	n/a	n/a
26	EBF1	chr9:117798369-117798792	GM12878	blood:	n/a	n/a
27	EBF1	chr9:117798322-117798992	GM12878	blood:	n/a	n/a
28	EGR1	chr9:117798508-117798674	GM12878	blood:	n/a	n/a
29	ELF1	chr9:117798111-117798754	GM12878	blood:	n/a	n/a
30	ELK1	chr9:117798485-117798736	GM12878	blood:	n/a	n/a
31	EP300	chr9:117798155-117798373	Hela-S3	cervix:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
32	EP300	chr9:117798242-117798891	GM12878	blood:	n/a	chr9:117798252-117798260
33	EP300	chr9:117796891-117797800	SK-N-SH	brain:	n/a	n/a
34	EP300	chr9:117798351-117798869	GM12878	blood:	n/a	n/a
35	EP300	chr9:117798052-117798846	GM12878	blood:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
36	EP300	chr9:117798069-117798459	K562	blood:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
37	EP300	chr9:117798120-117799277	GM12878	blood:	n/a	chr9:117798189-117798198 chr9:117799255-117799265 chr9:117798252-117798260
38	EP300	chr9:117797104-117797393	SK-N-SH_RA	brain:	n/a	n/a
39	FOS	chr9:117797232-117797449	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr9:117799107-117799401	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr9:117799003-117799483	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:117797154-117797448	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:117798517-117798764	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666
44	FOS	chr9:117798584-117798704	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666
45	FOS	chr9:117799071-117799443	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr9:117797312-117797391	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:117799014-117799470	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:117797304-117797319	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:117798517-117798735	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666
50	FOSL2	chr9:117797193-117797570	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117794694..117797326-chr9:117797727..117800455,2	K562	blood:

Variant related genes	Relation type
TNC	TF binding region
ENSG00000041982	chromatin interactions

Extended variants
information (count: 331 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16932078	chr9:117796986-117796987	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77106496	chr9:117797037-117797038	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555816727	chr9:117797104-117797105	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34962587	chr9:117797118-117797119	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376029173	chr9:117797125-117797126	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145111902	chr9:117797187-117797188	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188898559	chr9:117797233-117797234	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59449635	chr9:117797303-117797304	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558528319	chr9:117797354-117797355	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3215885	chr9:117797359-117797360	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs33917533	chr9:117797368-117797369	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397968932	chr9:117797369-117797370	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578252412	chr9:117797373-117797374	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544079269	chr9:117797393-117797394	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1330361	chr9:117797394-117797395	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573544771	chr9:117797402-117797403	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542390659	chr9:117797407-117797408	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs559397830	chr9:117797408-117797409	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs117096104	chr9:117797469-117797470	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368349567	chr9:117797508-117797509	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371111067	chr9:117797510-117797511	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376093344	chr9:117797524-117797525	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10118726	chr9:117797525-117797526	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530735519	chr9:117797538-117797539	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148674204	chr9:117797539-117797540	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550427608	chr9:117797544-117797545	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141255258	chr9:117797557-117797558	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150811111	chr9:117797570-117797571	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs139176024	chr9:117797573-117797574	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149774719	chr9:117797585-117797586	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12347433	chr9:117797597-117797598	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs566154461	chr9:117797598-117797599	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368535573	chr9:117797622-117797623	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371518854	chr9:117797639-117797640	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs34657888	chr9:117797667-117797668	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs56208767	chr9:117797718-117797719	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571839027	chr9:117797739-117797740	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193223364	chr9:117797768-117797769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs183487351	chr9:117797843-117797844	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115921909	chr9:117797872-117797873	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138917486	chr9:117797889-117797890	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187227543	chr9:117797913-117797914	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375069542	chr9:117797919-117797920	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191684964	chr9:117797948-117797949	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149375079	chr9:117797953-117797954	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144751737	chr9:117797967-117797968	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575081374	chr9:117797976-117797977	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184147973	chr9:117797977-117797978	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561231383	chr9:117798010-117798011	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148502391	chr9:117798084-117798085	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
2	chr9:117781800-117797400	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:117781800-117798200	Weak transcription	Fetal Intestine Large	intestine
4	chr9:117781800-117798400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
7	chr9:117788400-117797400	Weak transcription	Spleen	Spleen
8	chr9:117789000-117808600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:117789600-117797400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:117789800-117797400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:117790000-117797400	Strong transcription	NHDF-Ad	bronchial
12	chr9:117791600-117833200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr9:117791800-117797200	Weak transcription	HSMM	muscle
14	chr9:117791800-117797200	Strong transcription	NHEK	skin
15	chr9:117791800-117798000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:117792000-117800400	Weak transcription	Fetal Lung	lung
17	chr9:117792000-117802600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:117792600-117798000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:117792800-117815000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:117793200-117800600	Weak transcription	Lung	lung
21	chr9:117793600-117802600	Weak transcription	Fetal Kidney	kidney
22	chr9:117794200-117797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:117794400-117798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:117794400-117798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:117794400-117800400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:117794600-117799200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:117794800-117797400	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:117794800-117798800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:117794800-117799400	Genic enhancers	Osteobl	bone
30	chr9:117795200-117797400	Weak transcription	HSMMtube	muscle
31	chr9:117795200-117798200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:117795200-117803400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:117795400-117797200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:117795800-117798600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:117796000-117797600	Enhancers	Rectal Smooth Muscle	rectum
36	chr9:117796200-117797400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr9:117796200-117798000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:117796200-117801000	Enhancers	HMEC	breast
39	chr9:117796600-117797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:117796600-117797200	Weak transcription	Fetal Stomach	stomach
41	chr9:117796600-117797400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:117796600-117797400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:117796600-117797400	Weak transcription	Aorta	Aorta
44	chr9:117796600-117798200	Genic enhancers	NH-A	brain
45	chr9:117796600-117798600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:117796600-117799200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:117796600-117800600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:117796600-117801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:117796800-117797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:117796800-117797400	Enhancers	Colon Smooth Muscle	Colon

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