Variant report

Variant	esv1840787
Chromosome Location	chr9:117787173-117803882
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	chr9:117797967-117798956	GM12878	blood:	n/a	n/a
2	ATF2	chr9:117794575-117794942	GM12878	blood:	n/a	n/a
3	ATF2	chr9:117798018-117798987	GM12878	blood:	n/a	n/a
4	BATF	chr9:117794534-117794902	GM12878	blood:	n/a	chr9:117794742-117794753 chr9:117794563-117794572
5	BATF	chr9:117798141-117799100	GM12878	blood:	n/a	chr9:117798656-117798666 chr9:117798655-117798666
6	BATF	chr9:117798126-117798912	GM12878	blood:	n/a	chr9:117798656-117798666 chr9:117798655-117798666
7	BCL11A	chr9:117798421-117798850	GM12878	blood:	n/a	chr9:117798658-117798667
8	BCL11A	chr9:117798097-117798914	GM12878	blood:	n/a	chr9:117798658-117798667
9	BCL3	chr9:117798295-117798836	GM12878	blood:	n/a	chr9:117798658-117798667
10	BCLAF1	chr9:117798160-117798885	GM12878	blood:	n/a	chr9:117798658-117798667
11	BCLAF1	chr9:117798089-117798882	GM12878	blood:	n/a	chr9:117798658-117798667
12	BHLHE40	chr9:117798231-117798819	GM12878	blood:	n/a	n/a
13	CEBPB	chr9:117798099-117798357	K562	blood:	n/a	n/a
14	CEBPB	chr9:117797944-117798630	HCT-116	colon:	n/a	n/a
15	CEBPB	chr9:117798086-117798454	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:117798096-117798421	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr9:117797972-117798585	HCT-116	colon:	n/a	n/a
18	CEBPB	chr9:117798112-117798991	GM12878	blood:	n/a	n/a
19	CEBPB	chr9:117798421-117798744	GM12878	blood:	n/a	n/a
20	CEBPB	chr9:117798138-117798395	K562	blood:	n/a	n/a
21	CEBPB	chr9:117798104-117798423	K562	blood:	n/a	n/a
22	CHD1	chr9:117798175-117799161	GM12878	blood:	n/a	n/a
23	CHD2	chr9:117788309-117788421	HepG2	liver:	n/a	n/a
24	CHD2	chr9:117798402-117798817	GM12878	blood:	n/a	n/a
25	CREB1	chr9:117798017-117798971	GM12878	blood:	n/a	n/a
26	CTCF	chr9:117787810-117787834	Fibrobl	skin:	n/a	n/a
27	CTCF	chr9:117798920-117799070	GM12866	blood:	n/a	n/a
28	CUX1	chr9:117798380-117798930	GM12878	blood:	n/a	n/a
29	EBF1	chr9:117798106-117799218	GM12878	blood:	n/a	n/a
30	EBF1	chr9:117798369-117798792	GM12878	blood:	n/a	n/a
31	EBF1	chr9:117798322-117798992	GM12878	blood:	n/a	n/a
32	EGR1	chr9:117798508-117798674	GM12878	blood:	n/a	n/a
33	ELF1	chr9:117798111-117798754	GM12878	blood:	n/a	n/a
34	ELK1	chr9:117798485-117798736	GM12878	blood:	n/a	n/a
35	EP300	chr9:117796891-117797800	SK-N-SH	brain:	n/a	n/a
36	EP300	chr9:117798120-117799277	GM12878	blood:	n/a	chr9:117798189-117798198 chr9:117799255-117799265 chr9:117798252-117798260
37	EP300	chr9:117798351-117798869	GM12878	blood:	n/a	n/a
38	EP300	chr9:117787300-117787824	T-47D	breast:	n/a	chr9:117787433-117787447 chr9:117787751-117787765
39	EP300	chr9:117798242-117798891	GM12878	blood:	n/a	chr9:117798252-117798260
40	EP300	chr9:117798052-117798846	GM12878	blood:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
41	EP300	chr9:117798069-117798459	K562	blood:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
42	EP300	chr9:117797104-117797393	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr9:117798155-117798373	Hela-S3	cervix:	n/a	chr9:117798189-117798198 chr9:117798252-117798260
44	ESR1	chr9:117787251-117787742	T-47D	breast:	n/a	n/a
45	ESR1	chr9:117787286-117787607	T-47D	breast:	n/a	n/a
46	FOS	chr9:117798517-117798735	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666
47	FOS	chr9:117799014-117799470	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:117798517-117798764	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666
49	FOS	chr9:117797154-117797448	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:117798584-117798704	MCF10A-Er-Src	breast:	n/a	chr9:117798660-117798671 chr9:117798659-117798666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117776370..117777112-chr9:117788189..117788790,2	MCF-7	breast:
2	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: 696 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7035322	chr9:117787173-117787174	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188251857	chr9:117787219-117787220	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574914205	chr9:117787245-117787246	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191583477	chr9:117787267-117787268	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146100792	chr9:117787274-117787275	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183707605	chr9:117787287-117787288	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532646517	chr9:117787297-117787298	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12336431	chr9:117787334-117787335	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566635507	chr9:117787347-117787348	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563116441	chr9:117787357-117787358	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140011226	chr9:117787380-117787381	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187982508	chr9:117787401-117787402	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11999240	chr9:117787447-117787448	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34173955	chr9:117787454-117787455	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370573221	chr9:117787455-117787456	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375710243	chr9:117787489-117787490	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3838333	chr9:117787666-117787667	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397710774	chr9:117787669-117787670	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533585939	chr9:117787698-117787699	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80335939	chr9:117787738-117787739	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577720858	chr9:117787819-117787820	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4979490	chr9:117787851-117787852	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545088423	chr9:117787864-117787865	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567497716	chr9:117787894-117787895	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538143247	chr9:117787907-117787908	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536641943	chr9:117787952-117787953	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555951808	chr9:117787959-117787960	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569901235	chr9:117787964-117787965	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556155666	chr9:117787972-117787973	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535623484	chr9:117788000-117788001	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74569087	chr9:117788018-117788019	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73551062	chr9:117788032-117788033	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541286250	chr9:117788064-117788065	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192410737	chr9:117788169-117788170	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59045867	chr9:117788182-117788183	Strong transcription Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185326432	chr9:117788272-117788273	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113592519	chr9:117788411-117788412	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148904319	chr9:117788414-117788415	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546291539	chr9:117788417-117788418	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116317942	chr9:117788428-117788429	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142741560	chr9:117788451-117788452	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555770424	chr9:117788500-117788501	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542012319	chr9:117788509-117788510	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561907745	chr9:117788539-117788540	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573375261	chr9:117788554-117788555	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563284899	chr9:117788595-117788596	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2274754	chr9:117788655-117788656	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547745661	chr9:117788741-117788742	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12551586	chr9:117788787-117788788	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373640231	chr9:117788794-117788795	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	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:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
2	chr9:117773600-117787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:117776800-117791600	Weak transcription	Fetal Lung	lung
4	chr9:117779800-117787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:117781000-117788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:117781800-117791600	Weak transcription	Aorta	Aorta
7	chr9:117781800-117797400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:117781800-117798200	Weak transcription	Fetal Intestine Large	intestine
9	chr9:117781800-117798400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:117781800-117808600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:117782000-117788200	Weak transcription	Spleen	Spleen
12	chr9:117782000-117789600	Weak transcription	Gastric	stomach
13	chr9:117782400-117848200	Weak transcription	Brain Substantia Nigra	brain
14	chr9:117783000-117787200	Strong transcription	Colon Smooth Muscle	Colon
15	chr9:117783000-117787400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr9:117783200-117789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:117783200-117790000	Strong transcription	Fetal Stomach	stomach
18	chr9:117783200-117792400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:117783200-117796800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:117784200-117787400	Genic enhancers	NHDF-Ad	bronchial
21	chr9:117784400-117788200	Genic enhancers	Osteobl	bone
22	chr9:117784400-117789000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:117784400-117790200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:117784400-117791600	Weak transcription	Fetal Kidney	kidney
25	chr9:117784600-117788000	Genic enhancers	NH-A	brain
26	chr9:117784600-117788200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:117784600-117788400	Enhancers	HMEC	breast
28	chr9:117785200-117787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:117785400-117787200	Weak transcription	HSMMtube	muscle
30	chr9:117785600-117787400	Genic enhancers	NHEK	skin
31	chr9:117785600-117787600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr9:117785600-117788200	Weak transcription	Lung	lung
33	chr9:117785800-117788200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:117786000-117788600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr9:117786200-117791400	Weak transcription	HSMM	muscle
36	chr9:117786200-117794800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:117786400-117789400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:117786400-117794800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:117786600-117787200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:117786600-117787400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:117786600-117787600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:117786600-117787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:117786600-117788400	Enhancers	Placenta	Placenta
44	chr9:117786600-117789000	Strong transcription	NHLF	lung
45	chr9:117786600-117789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:117786600-117796600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:117786800-117787800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:117786800-117791400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:117786800-117792600	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:117787000-117788000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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