Variant report

Variant	nsv982324
Chromosome Location	chr9:97139062-97200156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:319)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:97149668-97149868	K562	blood:	n/a	n/a
2	ARID3A	chr9:97176135-97176335	K562	blood:	n/a	n/a
3	ARID3A	chr9:97148678-97148881	K562	blood:	n/a	n/a
4	ATF1	chr9:97148687-97148887	K562	blood:	n/a	n/a
5	ATF1	chr9:97176108-97176330	K562	blood:	n/a	n/a
6	BATF	chr9:97157714-97158049	GM12878	blood:	n/a	chr9:97157861-97157872
7	BATF	chr9:97142456-97142688	GM12878	blood:	n/a	n/a
8	BATF	chr9:97160107-97160365	GM12878	blood:	n/a	n/a
9	BATF	chr9:97164949-97165091	GM12878	blood:	n/a	n/a
10	BATF	chr9:97187691-97187928	GM12878	blood:	n/a	chr9:97187812-97187823
11	BATF	chr9:97149746-97150013	GM12878	blood:	n/a	chr9:97149779-97149789
12	BATF	chr9:97160113-97160392	GM12878	blood:	n/a	n/a
13	BATF	chr9:97142519-97142717	GM12878	blood:	n/a	n/a
14	BATF	chr9:97157636-97158070	GM12878	blood:	n/a	chr9:97157861-97157872
15	BCL11A	chr9:97157750-97157985	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:97142400-97142743	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:97157637-97158048	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:97142408-97142797	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:97140430-97140787	K562	blood:	n/a	n/a
20	BHLHE40	chr9:97175951-97176287	K562	blood:	n/a	n/a
21	CBX3	chr9:97140357-97141051	K562	blood:	n/a	n/a
22	CEBPB	chr9:97165313-97165319	HepG2	liver:	n/a	n/a
23	CEBPB	chr9:97176135-97176323	K562	blood:	n/a	n/a
24	CEBPB	chr9:97148613-97148980	K562	blood:	n/a	n/a
25	CEBPB	chr9:97195576-97195666	HepG2	liver:	n/a	chr9:97195646-97195659
26	CEBPB	chr9:97175952-97176475	K562	blood:	n/a	n/a
27	CEBPB	chr9:97142346-97142925	GM12878	blood:	n/a	chr9:97142652-97142665
28	CEBPB	chr9:97165290-97165316	A549	lung:	n/a	chr9:97165294-97165305
29	CEBPD	chr9:97175987-97176526	K562	blood:	n/a	n/a
30	CEBPD	chr9:97148545-97149056	K562	blood:	n/a	n/a
31	CTCF	chr9:97195450-97195515	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:97182470-97182583	NHEK	skin:	n/a	n/a
33	CTCF	chr9:97182460-97182610	NHEK	skin:	n/a	n/a
34	CTCF	chr9:97151939-97152020	GM10248	blood:	n/a	n/a
35	CTCF	chr9:97143500-97143650	HEK293	kidney:	n/a	n/a
36	CTCF	chr9:97143520-97143670	A549	lung:	n/a	n/a
37	CTCF	chr9:97148904-97148932	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr9:97157873-97157888	GM10248	blood:	n/a	n/a
39	CTCF	chr9:97182400-97182550	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr9:97151363-97151384	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr9:97173081-97173142	GM20000	blood:	n/a	n/a
42	CTCF	chr9:97195447-97195449	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:97148935-97148945	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr9:97182420-97182570	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr9:97182400-97182550	NHEK	skin:	n/a	n/a
46	CTCF	chr9:97157782-97157907	K562	blood:	n/a	n/a
47	CTCF	chr9:97151928-97151934	GM10248	blood:	n/a	n/a
48	CTCF	chr9:97195558-97195631	GM13976	blood:	n/a	n/a
49	CUX1	chr9:97149716-97149870	K562	blood:	n/a	n/a
50	EBF1	chr9:97147114-97147370	GM12878	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97140681-97140731	HUVEC	blood vessel:	n/a
2	chr9:97140681-97140731	HUVEC	blood vessel:	n/a
3	chr9:97140681-97140731	HNPCEpiC	eye:	n/a
4	chr9:97140681-97140731	HIPEpiC	eye:	n/a
5	chr9:97140681-97140731	GM12891	blood:	n/a
6	chr9:97140681-97140731	IMR90	lung:	fetal
7	chr9:97140681-97140731	PrEC	prostate:	n/a
8	chr9:97140681-97140731	GM19239	blood:	n/a
9	chr9:97140681-97140731	SKMC	muscle:	n/a
10	chr9:97140681-97140731	Hepatocyte	liver:	n/a
11	chr9:97140681-97140731	NHBE	bronchial:	n/a
12	chr9:97140681-97140731	AG04450	lung:	fetal
13	chr9:97140681-97140731	A549	lung:	n/a
14	chr9:97140681-97140731	NB4	blood:	n/a
15	chr9:97140681-97140731	RPTEC	kidney:	n/a
16	chr9:97140681-97140731	HL-60	blood:	n/a
17	chr9:97140681-97140731	Hela-S3	cervix:	n/a
18	chr9:97140681-97140731	SK-N-SH	brain:	n/a
19	chr9:97140681-97140731	MCF-7	breast:	n/a
20	chr9:97140681-97140731	GM06990	blood:	n/a
21	chr9:97140681-97140731	BE2_C	brain:	n/a
22	chr9:97140681-97140731	HEK293	kidney:	embryo
23	chr9:97140681-97140731	NHDF-neo	bronchial:	n/a
24	chr9:97140681-97140731	MCF10A-Er-Src	breast:	n/a
25	chr9:97140681-97140731	GM12878	blood:	n/a
26	chr9:97140681-97140731	Jurkat	blood:	n/a
27	chr9:97140681-97140731	LNCaP	prostate:	n/a
28	chr9:97140681-97140731	BJ	skin:	n/a
29	chr9:97140681-97140731	HRPEpiC	eye:	n/a
30	chr9:97140681-97140731	AG10803	skin:	n/a
31	chr9:97140681-97140731	HRE	kidney:	n/a
32	chr9:97140681-97140731	SK-N-SH_RA	brain:	n/a
33	chr9:97140681-97140731	HMEC	breast:	n/a
34	chr9:97140681-97140731	SK-N-MC	brain:	n/a
35	chr9:97140681-97140731	HCT-116	colon:	n/a
36	chr9:97140681-97140731	H1-hESC	embryonic stem cell:	embryo
37	chr9:97140681-97140731	K562	blood:	n/a
38	chr9:97140681-97140731	HCF	heart:	n/a
39	chr9:97140681-97140731	PFSK-1	brain:	n/a
40	chr9:97140681-97140731	HRCEpiC	kidney:	n/a
41	chr9:97140681-97140731	AG09309	skin:	n/a
42	chr9:97140681-97140731	SAEC	small airway:	n/a
43	chr9:97140681-97140731	Caco-2	colon:	n/a
44	chr9:97140681-97140731	HAEpiC	amniotic membrane:	n/a
45	chr9:97140681-97140731	T-47D	breast:	n/a
46	chr9:97140681-97140731	HPAEpiC	pulmonary alveolar:	n/a
47	chr9:97140681-97140731	NT2-D1	testis:	n/a
48	chr9:97140681-97140731	AoSMC	blood vessel:	n/a
49	chr9:97140681-97140731	HCPEpiC	choroid plexus:	n/a
50	chr9:97140681-97140731	HepG2	liver:	n/a

No data

Variant related genes	Relation type
HIATL1	TF binding region
HIATL1	CpG island

Extended variants
information (count: 2121 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2121 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542224089	chr9:97139130-97139131	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs386736420	chr9:97139161-97139162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576376111	chr9:97139162-97139163	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543687056	chr9:97139227-97139228	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565509091	chr9:97139228-97139229	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532613289	chr9:97139372-97139373	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541586942	chr9:97139398-97139399	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559597060	chr9:97139468-97139469	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs552178670	chr9:97139504-97139505	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142101771	chr9:97139549-97139550	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530959760	chr9:97139667-97139668	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112117727	chr9:97139724-97139725	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531669146	chr9:97139812-97139813	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373095439	chr9:97139835-97139836	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72412731	chr9:97139836-97139837	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150798745	chr9:97139838-97139839	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140793638	chr9:97139841-97139842	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549819767	chr9:97139856-97139857	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183197256	chr9:97139891-97139892	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2769720	chr9:97139928-97139929	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397834963	chr9:97139929-97139930	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538456590	chr9:97140005-97140006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553890206	chr9:97140006-97140007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565477658	chr9:97140090-97140091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186061407	chr9:97140118-97140119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554171766	chr9:97140150-97140151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191556527	chr9:97140154-97140155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556111479	chr9:97140194-97140195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575617332	chr9:97140230-97140231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148583286	chr9:97140231-97140232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536615467	chr9:97140258-97140259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559010003	chr9:97140259-97140260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182880468	chr9:97140300-97140301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541276667	chr9:97140318-97140319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559890005	chr9:97140320-97140321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2479639	chr9:97140334-97140335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575036347	chr9:97140340-97140341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563674570	chr9:97140346-97140347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188150839	chr9:97140364-97140365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563735546	chr9:97140386-97140387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549809830	chr9:97140395-97140396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71366229	chr9:97140408-97140409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552495669	chr9:97140415-97140416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2479637	chr9:97140430-97140431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568166601	chr9:97140513-97140514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4398990	chr9:97140542-97140543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs368297834	chr9:97140588-97140589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532425810	chr9:97140612-97140613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547320510	chr9:97140617-97140618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565516346	chr9:97140627-97140628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97136200-97140000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:97137000-97140800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:97137800-97140600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:97137800-97153000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:97138000-97140200	Weak transcription	Psoas Muscle	Psoas
6	chr9:97138000-97140200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:97138000-97140400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:97138000-97140600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:97138000-97140600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:97138000-97140600	Weak transcription	Left Ventricle	heart
11	chr9:97138000-97141800	Weak transcription	Fetal Intestine Large	intestine
12	chr9:97138000-97149000	Weak transcription	Fetal Intestine Small	intestine
13	chr9:97138200-97162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:97138400-97152800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr9:97138800-97139600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:97138800-97139600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr9:97138800-97140200	Weak transcription	GM12878-XiMat	blood
18	chr9:97138800-97140400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr9:97138800-97140600	Weak transcription	K562	blood
20	chr9:97138800-97152800	Weak transcription	Hela-S3	cervix
21	chr9:97138800-97168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:97139000-97159600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:97139600-97141200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:97140000-97146400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:97140200-97140400	Enhancers	Psoas Muscle	Psoas
26	chr9:97140200-97140400	Enhancers	GM12878-XiMat	blood
27	chr9:97140200-97141000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr9:97140400-97140800	Weak transcription	GM12878-XiMat	blood
29	chr9:97140400-97141000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:97140400-97143800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr9:97140600-97140800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:97140600-97140800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:97140600-97141000	Enhancers	Left Ventricle	heart
34	chr9:97140600-97141000	Enhancers	K562	blood
35	chr9:97140600-97142200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:97140800-97141000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:97141000-97141400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:97141200-97141600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr9:97141600-97142600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:97142200-97143400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr9:97142600-97147600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:97143400-97144000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr9:97143800-97144200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr9:97144000-97146600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr9:97144200-97144400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr9:97144400-97146600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:97146400-97148400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:97146600-97147200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr9:97146600-97147800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr9:97146800-97147000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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