Variant report

Variant	nsv973432
Chromosome Location	chr9:86330626-86371524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:86330869-86330946	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr9:86369486-86369790	GM12878	blood:	n/a	n/a
3	BATF	chr9:86364685-86364967	GM12878	blood:	n/a	n/a
4	BATF	chr9:86364717-86365046	GM12878	blood:	n/a	n/a
5	BATF	chr9:86369460-86369847	GM12878	blood:	n/a	n/a
6	CEBPB	chr9:86339439-86339593	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:86356300-86356401	HepG2	liver:	n/a	chr9:86356324-86356335
8	CEBPB	chr9:86359127-86359418	MCF-7	breast:	n/a	n/a
9	CTCF	chr9:86371301-86371327	MCF-7	breast:	n/a	n/a
10	CTCF	chr9:86336280-86336430	GM12873	blood:	n/a	n/a
11	CTCF	chr9:86359290-86359391	MCF-7	breast:	n/a	n/a
12	CTCF	chr9:86354123-86354181	LNCaP	prostate:	n/a	n/a
13	CTCF	chr9:86360196-86360247	ProgFib	skin:	n/a	n/a
14	CTCF	chr9:86359285-86359408	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:86332287-86332308	MCF-7	breast:	n/a	n/a
16	CTCF	chr9:86365454-86365492	GM20000	blood:	n/a	n/a
17	CTCF	chr9:86371285-86371326	MCF-7	breast:	n/a	n/a
18	CTCF	chr9:86365893-86365995	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr9:86360155-86360228	Fibrobl	skin:	n/a	n/a
20	CUX1	chr9:86342572-86342631	K562	blood:	n/a	n/a
21	CUX1	chr9:86362185-86362332	K562	blood:	n/a	n/a
22	EBF1	chr9:86369277-86369639	GM12878	blood:	n/a	n/a
23	EP300	chr9:86344840-86345040	K562	blood:	n/a	n/a
24	EP300	chr9:86369306-86369812	GM12878	blood:	n/a	n/a
25	FOXA1	chr9:86345220-86345502	HepG2	liver:	n/a	n/a
26	FOXA1	chr9:86344173-86344554	HepG2	liver:	n/a	chr9:86344368-86344380
27	GATA1	chr9:86366112-86366504	PBDE	blood:	n/a	n/a
28	GATA3	chr9:86366346-86366403	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr9:86338116-86338291	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr9:86337628-86338237	MCF-7	breast:	n/a	n/a
31	GATA3	chr9:86362034-86362302	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr9:86337742-86338402	MCF-7	breast:	n/a	n/a
33	GATA3	chr9:86354541-86354590	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr9:86362115-86362451	MCF-7	breast:	n/a	chr9:86362317-86362327
35	HDAC2	chr9:86359201-86359496	MCF-7	breast:	n/a	n/a
36	IKZF1	chr9:86369331-86369908	GM12878	blood:	n/a	n/a
37	IRF1	chr9:86363791-86363884	K562	blood:	n/a	n/a
38	IRF1	chr9:86366839-86366877	K562	blood:	n/a	n/a
39	IRF4	chr9:86369289-86369869	GM12878	blood:	n/a	n/a
40	JUND	chr9:86357362-86357605	HepG2	liver:	n/a	chr9:86357472-86357483
41	JUND	chr9:86338041-86338107	HepG2	liver:	n/a	n/a
42	MAFF	chr9:86330718-86331100	HepG2	liver:	n/a	chr9:86330902-86330920
43	MAFF	chr9:86330763-86330991	K562	blood:	n/a	chr9:86330902-86330920
44	MAFK	chr9:86350808-86350910	HepG2	liver:	n/a	n/a
45	MAFK	chr9:86350815-86350916	HepG2	liver:	n/a	n/a
46	MAFK	chr9:86330739-86331056	K562	blood:	n/a	chr9:86330903-86330918
47	MAFK	chr9:86330720-86331096	HepG2	liver:	n/a	chr9:86330903-86330918
48	MAFK	chr9:86330722-86331091	HepG2	liver:	n/a	chr9:86330903-86330918
49	MAFK	chr9:86330744-86331058	H1-hESC	embryonic stem cell:	n/a	chr9:86330903-86330918
50	MAFK	chr9:86330722-86331095	IMR90	lung:	n/a	chr9:86330903-86330918

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86321361..86326251-chr9:86334374..86342273,10	MCF-7	breast:
2	chr9:86335087..86337394-chr9:86338050..86339741,2	MCF-7	breast:
3	chr9:86338141..86341020-chr9:86352004..86354631,2	MCF-7	breast:
4	chr9:86320099..86325431-chr9:86327361..86332852,10	K562	blood:
5	chr9:86320830..86324231-chr9:86351676..86355112,3	MCF-7	breast:
6	chr9:86328904..86330988-chr9:86333192..86336000,2	MCF-7	breast:
7	chr9:86337822..86339937-chr9:86378973..86382818,3	MCF-7	breast:
8	chr9:86332615..86334154-chr9:86334869..86336793,2	K562	blood:
9	chr9:86322731..86325604-chr9:86342930..86344906,2	MCF-7	breast:
10	chr9:86321652..86323488-chr9:86360741..86364876,3	MCF-7	breast:
11	chr9:86321494..86323898-chr9:86346021..86348325,3	MCF-7	breast:
12	chr9:86329597..86331819-chr9:86336407..86338255,2	MCF-7	breast:
13	chr9:86328904..86330988-chr9:86333192..86336000,2	MCF-7	breast:
14	chr9:86330301..86334154-chr9:86335293..86340280,4	K562	blood:
15	chr9:86359135..86361678-chr9:86371105..86373484,2	K562	blood:
16	chr9:86332615..86334154-chr9:86334869..86336793,2	K562	blood:
17	chr9:86322491..86325101-chr9:86358768..86360572,2	MCF-7	breast:
18	chr9:86350659..86352740-chr9:86367582..86369974,2	MCF-7	breast:
19	chr9:86322496..86324028-chr9:86358237..86360101,2	MCF-7	breast:
20	chr9:86238156..86239735-chr9:86330530..86332510,2	MCF-7	breast:
21	chr9:86338141..86341020-chr9:86352004..86354631,2	MCF-7	breast:
22	chr9:86329597..86331819-chr9:86336407..86338255,2	MCF-7	breast:
23	chr9:86350659..86352740-chr9:86367582..86369974,2	MCF-7	breast:
24	chr9:86335087..86337394-chr9:86338050..86339741,2	MCF-7	breast:
25	chr9:81114665..81115292-chr9:86352643..86353230,2	MCF-7	breast:
26	chr9:86320463..86323415-chr9:86335259..86337466,2	K562	blood:
27	chr9:86330301..86334154-chr9:86335293..86340280,4	K562	blood:
28	chr9:86359135..86361678-chr9:86371105..86373484,2	K562	blood:

No data

Variant related genes	Relation type
GKAP1	TF binding region
ENSG00000135018	chromatin interactions
ENSG00000148057	chromatin interactions
ENSG00000254473	chromatin interactions

Extended variants
information (count: 1314 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1314 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564844477	chr9:86330642-86330643	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139395230	chr9:86330660-86330661	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs192068474	chr9:86330676-86330677	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183328111	chr9:86330704-86330705	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138161937	chr9:86330708-86330709	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560868854	chr9:86330847-86330848	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs386735696	chr9:86330905-86330906	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs10115799	chr9:86330906-86330907	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534724739	chr9:86330968-86330969	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs77517964	chr9:86331068-86331069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566026399	chr9:86331123-86331124	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs143302462	chr9:86331126-86331127	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187290799	chr9:86331133-86331134	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs74337754	chr9:86331137-86331138	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552356280	chr9:86331174-86331175	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537344721	chr9:86331190-86331191	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11140225	chr9:86331217-86331218	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116614342	chr9:86331222-86331223	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs190302874	chr9:86331292-86331293	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs147147966	chr9:86331299-86331300	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs371199485	chr9:86331419-86331420	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142934075	chr9:86331420-86331421	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78803779	chr9:86331467-86331468	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546416215	chr9:86331478-86331479	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs529776435	chr9:86331512-86331513	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs531887828	chr9:86331559-86331560	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs543731133	chr9:86331574-86331575	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562012640	chr9:86331626-86331627	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs57378362	chr9:86331627-86331628	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs60567720	chr9:86331659-86331660	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149696285	chr9:86331840-86331841	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs144472496	chr9:86331842-86331843	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200417143	chr9:86331865-86331866	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182572799	chr9:86331874-86331875	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551805174	chr9:86331876-86331877	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs374895813	chr9:86331880-86331881	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138862042	chr9:86331883-86331884	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7024716	chr9:86331895-86331896	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199703617	chr9:86331909-86331910	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549945174	chr9:86331915-86331916	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs112628315	chr9:86331961-86331962	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555732522	chr9:86331984-86331985	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs569947775	chr9:86331986-86331987	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs185852749	chr9:86331994-86331995	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534648655	chr9:86332018-86332019	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs552682433	chr9:86332039-86332040	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs577523076	chr9:86332041-86332042	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs148455455	chr9:86332049-86332050	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373419305	chr9:86332080-86332081	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs556992041	chr9:86332081-86332082	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86324200-86331000	Weak transcription	Brain Angular Gyrus	brain
2	chr9:86324200-86331800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:86328200-86331000	Weak transcription	Liver	Liver
4	chr9:86335800-86336400	Enhancers	HepG2	liver
5	chr9:86336400-86337600	Weak transcription	HepG2	liver
6	chr9:86337400-86337800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:86337600-86337800	Enhancers	HepG2	liver
8	chr9:86338800-86339200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:86339200-86339600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr9:86339600-86340600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:86344800-86345200	Enhancers	K562	blood
12	chr9:86345000-86345200	Bivalent Enhancer	HepG2	liver
13	chr9:86347200-86347400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:86347400-86354200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:86347800-86366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:86348400-86415400	Weak transcription	Fetal Heart	heart
17	chr9:86350000-86431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:86350200-86374600	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:86350600-86352400	Weak transcription	Primary T cells from cord blood	blood
20	chr9:86350600-86352800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:86350800-86352200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:86350800-86352400	Weak transcription	Left Ventricle	heart
23	chr9:86350800-86407000	Weak transcription	Primary B cells from cord blood	blood
24	chr9:86351000-86367000	Weak transcription	Fetal Intestine Small	intestine
25	chr9:86351000-86367000	Weak transcription	Fetal Stomach	stomach
26	chr9:86351000-86393200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:86351200-86358600	Weak transcription	Psoas Muscle	Psoas
28	chr9:86351200-86366000	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:86351400-86353200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:86351400-86366800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:86351400-86367000	Weak transcription	Thymus	Thymus
32	chr9:86351400-86371000	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:86351600-86352800	Weak transcription	Liver	Liver
34	chr9:86352000-86354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:86352000-86411800	Weak transcription	Ovary	ovary
36	chr9:86352200-86352400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:86352200-86354600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr9:86352200-86367200	Weak transcription	Fetal Thymus	thymus
39	chr9:86352400-86354000	Strong transcription	Primary T cells from cord blood	blood
40	chr9:86352400-86354400	Strong transcription	Left Ventricle	heart
41	chr9:86352400-86357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:86352600-86358600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:86352600-86362200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:86352600-86377800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:86352600-86398200	Weak transcription	Fetal Brain Female	brain
46	chr9:86352800-86353000	Weak transcription	Brain Angular Gyrus	brain
47	chr9:86352800-86353000	Enhancers	Lung	lung
48	chr9:86352800-86353600	ZNF genes & repeats	Aorta	Aorta
49	chr9:86352800-86353800	Strong transcription	Liver	Liver
50	chr9:86352800-86354600	Strong transcription	Primary hematopoietic stem cells	blood

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