Variant report

Variant	nsv982320
Chromosome Location	chr9:94799706-94821700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:94809898-94810246	K562	blood:	n/a	n/a
2	ARID3A	chr9:94807245-94807680	K562	blood:	n/a	n/a
3	ATF1	chr9:94807307-94807603	K562	blood:	n/a	n/a
4	ATF1	chr9:94805308-94805633	K562	blood:	n/a	n/a
5	ATF2	chr9:94817887-94818429	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr9:94817945-94818437	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr9:94817917-94818210	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr9:94817923-94818256	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr9:94803712-94804263	K562	blood:	n/a	n/a
10	CCNT2	chr9:94807309-94807621	K562	blood:	n/a	n/a
11	CEBPB	chr9:94807219-94807535	K562	blood:	n/a	n/a
12	CEBPB	chr9:94818999-94819254	A549	lung:	n/a	chr9:94819117-94819130 chr9:94819117-94819128
13	CEBPB	chr9:94818998-94819289	K562	blood:	n/a	chr9:94819117-94819130 chr9:94819117-94819128
14	CEBPB	chr9:94819042-94819242	HepG2	liver:	n/a	chr9:94819117-94819130 chr9:94819117-94819128
15	CEBPB	chr9:94819004-94819312	H1-hESC	embryonic stem cell:	n/a	chr9:94819117-94819130 chr9:94819117-94819128
16	CEBPB	chr9:94807132-94807512	K562	blood:	n/a	n/a
17	CEBPB	chr9:94819048-94819204	IMR90	lung:	n/a	chr9:94819117-94819130 chr9:94819117-94819128
18	CEBPD	chr9:94807209-94807703	K562	blood:	n/a	n/a
19	CEBPD	chr9:94807128-94807703	K562	blood:	n/a	n/a
20	CTCF	chr9:94812740-94812890	BE2_C	brain:	n/a	n/a
21	CTCF	chr9:94800160-94800310	WI-38	lung:	n/a	n/a
22	CTCF	chr9:94819240-94819390	Caco-2	colon:	n/a	n/a
23	CTCF	chr9:94812654-94812802	K562	blood:	n/a	n/a
24	CTCF	chr9:94812673-94812751	LNCaP	prostate:	n/a	n/a
25	CTCF	chr9:94812580-94812730	BJ	skin:	n/a	n/a
26	CTCF	chr9:94812706-94812773	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:94812715-94812765	Medullo	brain:	n/a	n/a
28	CTCF	chr9:94812678-94812785	LNCaP	prostate:	n/a	n/a
29	CTCF	chr9:94811952-94811955	Lung_OC	lung:	n/a	n/a
30	CTCF	chr9:94812600-94812750	AG10803	skin:	n/a	n/a
31	CTCF	chr9:94817127-94817176	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:94812655-94812787	MCF-7	breast:	n/a	n/a
33	CTCF	chr9:94812700-94812850	HPF	lung:	n/a	n/a
34	CTCF	chr9:94812016-94812019	Lung_OC	lung:	n/a	n/a
35	CTCF	chr9:94812540-94812690	HCM	heart:	n/a	n/a
36	CTCF	chr9:94812660-94812810	HPF	lung:	n/a	n/a
37	CTCF	chr9:94811957-94812014	Lung_OC	lung:	n/a	n/a
38	CTCF	chr9:94812620-94812770	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr9:94812580-94812730	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr9:94812660-94812810	HMF	breast:	n/a	n/a
41	CTCF	chr9:94812600-94812750	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:94812720-94812870	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr9:94812640-94812790	AG09319	gingival:	n/a	n/a
44	CTCF	chr9:94812400-94812550	NHDF-neo	bronchial:	n/a	n/a
45	CUX1	chr9:94807023-94807606	K562	blood:	n/a	n/a
46	E2F4	chr9:94804868-94805125	MCF10A-Er-Src	breast:	n/a	n/a
47	EGR1	chr9:94813144-94813298	GM12878	blood:	n/a	n/a
48	ELK1	chr9:94819854-94819938	GM12878	blood:	n/a	n/a
49	EP300	chr9:94817934-94818179	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr9:94805405-94805620	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94799349..94801127-chr9:94801709..94804100,2	MCF-7	breast:
2	chr9:94811198..94813867-chr9:94816411..94819240,2	MCF-7	breast:
3	chr9:94803091..94807436-chr9:94808499..94811192,5	K562	blood:
4	chr9:94807642..94810045-chr9:94810085..94812250,2	K562	blood:
5	chr9:94807642..94810045-chr9:94810085..94812250,2	K562	blood:
6	chr9:94770078..94772995-chr9:94817717..94819222,2	K562	blood:
7	chr9:94805829..94808024-chr9:94825130..94827991,2	K562	blood:
8	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:
9	chr9:94800752..94804728-chr9:94805070..94807869,3	K562	blood:
10	chr9:94811198..94813867-chr9:94816411..94819240,2	MCF-7	breast:
11	chr9:94821053..94823320-chr9:94823986..94826593,3	MCF-7	breast:
12	chr9:94810983..94813724-chr9:94831335..94833078,2	MCF-7	breast:
13	chr9:94803091..94807436-chr9:94808499..94811192,5	K562	blood:

No data

Variant related genes	Relation type
SPTLC1	TF binding region
ENSG00000090054	chromatin interactions

Extended variants
information (count: 894 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147221686	chr9:94799818-94799819	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534906168	chr9:94799819-94799820	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201938781	chr9:94799833-94799834	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571786624	chr9:94799876-94799877	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140288185	chr9:94799879-94799880	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191094720	chr9:94799885-94799886	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183644312	chr9:94799890-94799891	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377215075	chr9:94799893-94799894	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567465672	chr9:94799906-94799907	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534879813	chr9:94799909-94799910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565053533	chr9:94799946-94799947	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189285509	chr9:94799980-94799981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374952554	chr9:94800009-94800010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371643068	chr9:94800012-94800013	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142085730	chr9:94800055-94800056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547205007	chr9:94800072-94800073	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200584280	chr9:94800130-94800131	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3847308	chr9:94800146-94800147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs201790098	chr9:94800197-94800198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548433133	chr9:94800246-94800247	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182032747	chr9:94800256-94800257	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113118403	chr9:94800266-94800267	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150739075	chr9:94800267-94800268	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576117913	chr9:94800286-94800287	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7027257	chr9:94800307-94800308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535013808	chr9:94800343-94800344	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374901987	chr9:94800405-94800406	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199757841	chr9:94800499-94800500	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200704785	chr9:94800520-94800521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7350194	chr9:94800545-94800546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201413090	chr9:94800563-94800564	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376931202	chr9:94800569-94800570	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567541925	chr9:94800570-94800571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568357208	chr9:94800575-94800576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139111476	chr9:94800584-94800585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112226354	chr9:94800596-94800597	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369803886	chr9:94800616-94800617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs119482084	chr9:94800624-94800625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373007603	chr9:94800631-94800632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377583863	chr9:94800653-94800654	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147137401	chr9:94800660-94800661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10681159	chr9:94800671-94800672	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201152695	chr9:94800675-94800676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3750441	chr9:94800690-94800691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546608786	chr9:94800704-94800705	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141350413	chr9:94800810-94800811	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559576898	chr9:94800813-94800814	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs3858086	chr9:94800855-94800856	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs542283692	chr9:94800868-94800869	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs563648934	chr9:94800897-94800898	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
3	chr9:94792200-94801000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:94792400-94801000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr9:94792400-94801200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:94792400-94801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:94792600-94800400	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr9:94792600-94801200	Strong transcription	Liver	Liver
10	chr9:94792800-94800400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:94792800-94802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:94792800-94802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:94793400-94801200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:94793400-94801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:94793600-94801000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr9:94793600-94802200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:94793600-94804200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:94793600-94805400	Weak transcription	Small Intestine	intestine
22	chr9:94793800-94801400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:94794000-94801600	Strong transcription	Primary B cells from cord blood	blood
24	chr9:94794200-94801000	Strong transcription	Brain Hippocampus Middle	brain
25	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:94794200-94801200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr9:94794200-94801200	Strong transcription	GM12878-XiMat	blood
29	chr9:94794200-94801400	Strong transcription	NHEK	skin
30	chr9:94794200-94801600	Strong transcription	Osteobl	bone
31	chr9:94794200-94804600	Weak transcription	Fetal Heart	heart
32	chr9:94794400-94801000	Strong transcription	Fetal Brain Female	brain
33	chr9:94794400-94801200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr9:94794400-94802200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:94794600-94800000	Strong transcription	HSMMtube	muscle
36	chr9:94794600-94801000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:94794600-94801000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:94794600-94801000	Strong transcription	Brain Anterior Caudate	brain
39	chr9:94794600-94801000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr9:94794600-94801000	Strong transcription	Fetal Intestine Large	intestine
41	chr9:94794600-94801000	Strong transcription	Pancreas	Pancrea
42	chr9:94794600-94801000	Strong transcription	Thymus	Thymus
43	chr9:94794600-94801000	Strong transcription	Spleen	Spleen
44	chr9:94794600-94801200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr9:94794600-94801200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr9:94794600-94801200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:94794600-94801200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:94794600-94801200	Strong transcription	Aorta	Aorta
49	chr9:94794600-94801200	Strong transcription	Brain Germinal Matrix	brain
50	chr9:94794600-94801200	Strong transcription	Gastric	stomach

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