Variant report

Variant	nsv523259
Chromosome Location	chr10:96534584-96693727
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	ARID3A	chr10:96662316-96662867	HepG2	liver:	n/a	n/a
2	ATF3	chr10:96662325-96662813	A549	lung:	n/a	n/a
3	BCL3	chr10:96662227-96662843	A549	lung:	n/a	n/a
4	BCL3	chr10:96662368-96662780	A549	lung:	n/a	n/a
5	CEBPB	chr10:96662333-96662805	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
6	CEBPB	chr10:96581486-96581791	A549	lung:	n/a	chr10:96581633-96581644
7	CEBPB	chr10:96662475-96662675	IMR90	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
8	CEBPB	chr10:96610998-96611149	K562	blood:	n/a	chr10:96611099-96611110
9	CEBPB	chr10:96581454-96581783	HepG2	liver:	n/a	chr10:96581633-96581644
10	CEBPB	chr10:96662320-96662841	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
11	CEBPB	chr10:96662344-96662777	Hela-S3	cervix:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
12	CEBPB	chr10:96662349-96662739	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
13	CEBPB	chr10:96662301-96662799	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
14	CEBPB	chr10:96664707-96664914	HepG2	liver:	n/a	chr10:96664829-96664840
15	CEBPB	chr10:96662376-96662710	HepG2	liver:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
16	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
17	CEBPB	chr10:96610933-96611257	IMR90	lung:	n/a	chr10:96611099-96611110
18	CEBPB	chr10:96610925-96611288	HepG2	liver:	n/a	chr10:96611099-96611110
19	CEBPB	chr10:96662318-96662764	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
20	CEBPB	chr10:96662174-96662987	A549	lung:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
21	CEBPB	chr10:96610935-96611206	A549	lung:	n/a	chr10:96611099-96611110
22	CEBPB	chr10:96662406-96662733	MCF-7	breast:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
23	CEBPB	chr10:96662366-96662879	MCF-7	breast:	n/a	chr10:96662487-96662500 chr10:96662487-96662498
24	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
25	CEBPB	chr10:96685708-96685784	A549	lung:	n/a	chr10:96685750-96685761
26	CEBPB	chr10:96685700-96685775	HepG2	liver:	n/a	chr10:96685750-96685761
27	CEBPB	chr10:96685653-96685786	IMR90	lung:	n/a	chr10:96685750-96685761
28	CEBPB	chr10:96687947-96687969	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPD	chr10:96662356-96662705	HepG2	liver:	n/a	n/a
30	CTCF	chr10:96626963-96627063	LNCaP	prostate:	n/a	n/a
31	CTCF	chr10:96666320-96666470	A549	lung:	n/a	n/a
32	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
33	CTCF	chr10:96639680-96639830	HepG2	liver:	n/a	n/a
34	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
35	CTCF	chr10:96650520-96650670	HEK293	kidney:	n/a	n/a
36	CTCF	chr10:96639813-96639932	K562	blood:	n/a	n/a
37	CTCF	chr10:96639300-96639450	RPTEC	kidney:	n/a	n/a
38	CTCF	chr10:96639700-96639850	RPTEC	kidney:	n/a	n/a
39	CTCF	chr10:96639720-96639870	GM12872	blood:	n/a	n/a
40	CTCF	chr10:96650440-96650590	HCT-116	colon:	n/a	n/a
41	CTCF	chr10:96660839-96660858	ProgFib	skin:	n/a	n/a
42	CTCF	chr10:96650537-96650610	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:96639640-96639790	GM12864	blood:	n/a	n/a
44	CTCF	chr10:96618977-96619055	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:96650460-96650610	Caco-2	colon:	n/a	n/a
46	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr10:96673704-96673769	GM13976	blood:	n/a	n/a
48	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
49	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
50	CTCF	chr10:96639691-96639881	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96644256..96646461-chr10:96648799..96651515,2	K562	blood:
2	chr10:96644256..96646461-chr10:96648799..96651515,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2C8-4	chr10:96625609-96625760	NONHSAT015740
2	lnc-CYP2C8-4	chr10:96625946-96626096	NONHSAT015740
3	lnc-CYP2C8-4	chr10:96632715-96632886	NONHSAT015740
4	lnc-CYP2C19-1	chr10:96642311-96643100	NONHSAT015741

Variant related genes	Relation type
CYP2C9	TF binding region
CYP2C58P	TF binding region
ENSG00000225354	TF binding region
MTND4P19	TF binding region

Extended variants
information (count: 7438 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:7438 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7916649	chr10:96534584-96534585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111773794	chr10:96534588-96534589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17878937	chr10:96534597-96534598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567611862	chr10:96534607-96534608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373045306	chr10:96534609-96534610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530199203	chr10:96534621-96534622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150938675	chr10:96534628-96534629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569491215	chr10:96534649-96534650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140775444	chr10:96534712-96534713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543880335	chr10:96534720-96534721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560620268	chr10:96534725-96534726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558396143	chr10:96534735-96534736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17878649	chr10:96534768-96534769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368928532	chr10:96534792-96534793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149702989	chr10:96534801-96534802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375151331	chr10:96534812-96534813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150045105	chr10:96534836-96534837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202036394	chr10:96534839-96534840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554542134	chr10:96534856-96534857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145328984	chr10:96534863-96534864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201306972	chr10:96534864-96534865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28399505	chr10:96534867-96534868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149072229	chr10:96534887-96534888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143075956	chr10:96534911-96534912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118203756	chr10:96534917-96534918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17878459	chr10:96534922-96534923	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375159521	chr10:96534938-96534939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372985779	chr10:96534951-96534952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545642100	chr10:96534963-96534964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200347843	chr10:96534972-96534973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112197069	chr10:96534975-96534976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5030781	chr10:96534979-96534980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199549982	chr10:96534993-96534994	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369969271	chr10:96535008-96535009	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs370652887	chr10:96535021-96535022	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs17887022	chr10:96535052-96535053	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs28399506	chr10:96535055-96535056	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374018031	chr10:96535061-96535062	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112518862	chr10:96535099-96535100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377056911	chr10:96535106-96535107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370167902	chr10:96535110-96535111	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374825809	chr10:96535112-96535113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201766009	chr10:96535120-96535121	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12769205	chr10:96535124-96535125	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs370987525	chr10:96535125-96535126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368271516	chr10:96535129-96535130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs267602634	chr10:96535147-96535148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372875966	chr10:96535150-96535151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201723068	chr10:96535151-96535152	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145119820	chr10:96535152-96535153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96525600-96539400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:96526800-96534800	Weak transcription	Fetal Intestine Large	intestine
3	chr10:96530400-96537600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:96531600-96535000	Weak transcription	Liver	Liver
5	chr10:96533000-96564600	Weak transcription	Gastric	stomach
6	chr10:96534800-96535800	Strong transcription	Fetal Intestine Large	intestine
7	chr10:96535000-96537800	Strong transcription	Liver	Liver
8	chr10:96535800-96537600	Weak transcription	Fetal Intestine Large	intestine
9	chr10:96537600-96538000	Enhancers	Fetal Intestine Small	intestine
10	chr10:96537600-96538200	Enhancers	Fetal Intestine Large	intestine
11	chr10:96537800-96538200	Genic enhancers	Liver	Liver
12	chr10:96537800-96538200	Enhancers	Stomach Mucosa	stomach
13	chr10:96537800-96538200	Enhancers	HepG2	liver
14	chr10:96538000-96553400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:96538200-96540400	Weak transcription	Fetal Intestine Large	intestine
16	chr10:96538200-96541400	Weak transcription	Stomach Mucosa	stomach
17	chr10:96538200-96543800	Strong transcription	Liver	Liver
18	chr10:96539400-96540800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr10:96540400-96542200	Strong transcription	Fetal Intestine Large	intestine
20	chr10:96540800-96547800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr10:96542200-96545400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:96543800-96545200	Weak transcription	Liver	Liver
23	chr10:96545200-96549400	Strong transcription	Liver	Liver
24	chr10:96545400-96546000	Strong transcription	Fetal Intestine Large	intestine
25	chr10:96546000-96553600	Weak transcription	Fetal Intestine Large	intestine
26	chr10:96547800-96548600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr10:96548600-96552800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:96549400-96550200	Weak transcription	Liver	Liver
29	chr10:96550200-96550400	Strong transcription	Liver	Liver
30	chr10:96550400-96552000	Weak transcription	Liver	Liver
31	chr10:96552000-96554600	Strong transcription	Liver	Liver
32	chr10:96552800-96554200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr10:96553400-96554200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr10:96553600-96554200	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr10:96554200-96560000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:96554200-96560000	Weak transcription	Fetal Intestine Small	intestine
37	chr10:96554200-96560400	Weak transcription	Fetal Intestine Large	intestine
38	chr10:96554600-96560000	Weak transcription	Liver	Liver
39	chr10:96560000-96560800	Genic enhancers	Liver	Liver
40	chr10:96560000-96561200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr10:96560000-96562200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr10:96560400-96564600	Strong transcription	Fetal Intestine Large	intestine
43	chr10:96560800-96566200	Strong transcription	Liver	Liver
44	chr10:96561600-96562000	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr10:96562000-96563200	Weak transcription	Fetal Intestine Small	intestine
46	chr10:96562200-96563000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:96563000-96564400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr10:96563200-96563600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr10:96563200-96563800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr10:96563200-96564400	Strong transcription	Fetal Intestine Small	intestine

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