Variant report

Variant	nsv551962
Chromosome Location	chr10:96680265-96734339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:96723621-96723944	HepG2	liver:	n/a	n/a
2	ATF1	chr10:96723629-96723810	K562	blood:	n/a	n/a
3	BHLHE40	chr10:96723678-96723689	GM12878	blood:	n/a	n/a
4	CBX3	chr10:96703425-96703936	HCT-116	colon:	n/a	n/a
5	CBX3	chr10:96703538-96703819	K562	blood:	n/a	n/a
6	CEBPB	chr10:96685700-96685775	HepG2	liver:	n/a	chr10:96685750-96685761
7	CEBPB	chr10:96685653-96685786	IMR90	lung:	n/a	chr10:96685750-96685761
8	CEBPB	chr10:96733126-96733349	HepG2	liver:	n/a	n/a
9	CEBPB	chr10:96697196-96697461	A549	lung:	n/a	n/a
10	CEBPB	chr10:96730567-96730822	IMR90	lung:	n/a	chr10:96730715-96730724 chr10:96730715-96730726 chr10:96730713-96730724
11	CEBPB	chr10:96685708-96685784	A549	lung:	n/a	chr10:96685750-96685761
12	CEBPB	chr10:96696670-96696759	A549	lung:	n/a	chr10:96696690-96696699 chr10:96696690-96696699
13	CEBPB	chr10:96730590-96730848	A549	lung:	n/a	chr10:96730715-96730724 chr10:96730715-96730726 chr10:96730713-96730724
14	CEBPB	chr10:96730540-96730853	HepG2	liver:	n/a	chr10:96730715-96730724 chr10:96730715-96730726 chr10:96730713-96730724
15	CEBPB	chr10:96711779-96711868	A549	lung:	n/a	n/a
16	CEBPB	chr10:96687947-96687969	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr10:96697192-96697397	IMR90	lung:	n/a	n/a
18	CTCF	chr10:96687367-96687423	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:96723680-96723830	HepG2	liver:	n/a	n/a
20	CTCF	chr10:96723586-96723965	GM12878	blood:	n/a	n/a
21	CTCF	chr10:96723700-96723850	GM12873	blood:	n/a	n/a
22	CTCF	chr10:96723720-96723870	GM12872	blood:	n/a	n/a
23	CTCF	chr10:96723700-96723850	GM12878	blood:	n/a	n/a
24	CTCF	chr10:96723912-96723986	GM12891	blood:	n/a	n/a
25	CTCF	chr10:96723681-96723841	Lung_OC	lung:	n/a	n/a
26	CTCF	chr10:96723675-96723840	GM10248	blood:	n/a	n/a
27	CTCF	chr10:96723680-96723830	HMEC	breast:	n/a	n/a
28	CTCF	chr10:96723720-96723870	WI-38	lung:	n/a	n/a
29	CTCF	chr10:96723660-96723810	HPF	lung:	n/a	n/a
30	CTCF	chr10:96723680-96723830	GM12866	blood:	n/a	n/a
31	CTCF	chr10:96723340-96723490	Caco-2	colon:	n/a	n/a
32	CTCF	chr10:96723740-96723890	HCFaa	heart:	n/a	n/a
33	CTCF	chr10:96723700-96723850	AG10803	skin:	n/a	n/a
34	CTCF	chr10:96723680-96723830	GM12868	blood:	n/a	n/a
35	CTCF	chr10:96723680-96723830	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr10:96723680-96723830	HRE	kidney:	n/a	n/a
37	CTCF	chr10:96723740-96723890	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr10:96689340-96689490	RPTEC	kidney:	n/a	n/a
39	CTCF	chr10:96723720-96723870	GM12864	blood:	n/a	n/a
40	CTCF	chr10:96723700-96723850	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:96723600-96723750	A549	lung:	n/a	n/a
42	CTCF	chr10:96723700-96723850	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr10:96696732-96696792	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr10:96723700-96723850	GM12865	blood:	n/a	n/a
45	CTCF	chr10:96723680-96723830	K562	blood:	n/a	n/a
46	CTCF	chr10:96723700-96723850	GM12870	blood:	n/a	n/a
47	CTCF	chr10:96723654-96723905	GM12878	blood:	n/a	n/a
48	CTCF	chr10:96723680-96723830	GM06990	blood:	n/a	n/a
49	CTCF	chr10:96723680-96723830	AG04449	skin:	n/a	n/a
50	CTCF	chr10:96723632-96723878	GM10266	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96697436-96697486	HEK293	kidney:	embryo
2	chr10:96697436-96697486	ovcar-3	ovarian:	n/a
3	chr10:96697436-96697486	SAEC	small airway:	n/a
4	chr10:96698366-96698416	HCM	heart:	n/a
5	chr10:96697436-96697486	HCM	heart:	n/a
6	chr10:96698366-96698416	RPTEC	kidney:	n/a
7	chr10:96698366-96698416	AG09309	skin:	n/a
8	chr10:96697436-96697486	AG04449	skin:	fetal
9	chr10:96697436-96697486	GM12891	blood:	n/a
10	chr10:96698366-96698416	HMEC	breast:	n/a
11	chr10:96697436-96697486	HCF	heart:	n/a
12	chr10:96698366-96698416	SK-N-SH	brain:	n/a
13	chr10:96698366-96698416	NT2-D1	testis:	n/a
14	chr10:96697436-96697486	HCT-116	colon:	n/a
15	chr10:96697436-96697486	HIPEpiC	eye:	n/a
16	chr10:96698366-96698416	BJ	skin:	n/a
17	chr10:96697436-96697486	HRE	kidney:	n/a
18	chr10:96697436-96697486	HAEpiC	amniotic membrane:	n/a
19	chr10:96697436-96697486	IMR90	lung:	fetal
20	chr10:96698366-96698416	NB4	blood:	n/a
21	chr10:96697436-96697486	HRCEpiC	kidney:	n/a
22	chr10:96697436-96697486	SK-N-SH	brain:	n/a
23	chr10:96697436-96697486	Hela-S3	cervix:	n/a
24	chr10:96697436-96697486	Hepatocyte	liver:	n/a
25	chr10:96697436-96697486	H1-hESC	embryonic stem cell:	embryo
26	chr10:96698366-96698416	NHDF-neo	bronchial:	n/a
27	chr10:96697436-96697486	HNPCEpiC	eye:	n/a
28	chr10:96697436-96697486	K562	blood:	n/a
29	chr10:96697436-96697486	MCF-7	breast:	n/a
30	chr10:96698366-96698416	HRE	kidney:	n/a
31	chr10:96698366-96698416	HepG2	liver:	n/a
32	chr10:96698366-96698416	GM12878	blood:	n/a
33	chr10:96698366-96698416	Hepatocyte	liver:	n/a
34	chr10:96697436-96697486	HCPEpiC	choroid plexus:	n/a
35	chr10:96698366-96698416	AG09319	gingival:	n/a
36	chr10:96697436-96697486	HL-60	blood:	n/a
37	chr10:96698366-96698416	H1-hESC	embryonic stem cell:	embryo
38	chr10:96698366-96698416	AG04449	skin:	fetal
39	chr10:96697436-96697486	MCF10A-Er-Src	breast:	n/a
40	chr10:96698366-96698416	ECC-1	luminal epithelium:	n/a
41	chr10:96698366-96698416	BE2_C	brain:	n/a
42	chr10:96697436-96697486	PrEC	prostate:	n/a
43	chr10:96697436-96697486	HRPEpiC	eye:	n/a
44	chr10:96697436-96697486	AG09319	gingival:	n/a
45	chr10:96697436-96697486	BE2_C	brain:	n/a
46	chr10:96698366-96698416	GM19239	blood:	n/a
47	chr10:96697436-96697486	T-47D	breast:	n/a
48	chr10:96698366-96698416	T-47D	breast:	n/a
49	chr10:96697436-96697486	AG09309	skin:	n/a
50	chr10:96698366-96698416	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96723396..96724119-chr10:96892337..96892982,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP2C9	TF binding region
MTND4P20	TF binding region
CYP2C9	CpG island
MTND4P20	CpG island

Extended variants
information (count: 2575 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2575 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557789420	chr10:96680834-96680835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs180736770	chr10:96680849-96680850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533698071	chr10:96680861-96680862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113513771	chr10:96680876-96680877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542037058	chr10:96680885-96680886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs562018793	chr10:96680952-96680953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200120450	chr10:96680955-96680956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186458705	chr10:96680984-96680985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2181097	chr10:96681000-96681001	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs564361863	chr10:96681002-96681003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533461864	chr10:96681014-96681015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116431681	chr10:96681039-96681040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576898358	chr10:96681078-96681079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs72818617	chr10:96681088-96681089	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529064469	chr10:96681116-96681117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1358894	chr10:96681133-96681134	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs147129815	chr10:96681174-96681175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551394199	chr10:96681176-96681177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571184903	chr10:96681178-96681179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533870325	chr10:96681198-96681199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553553276	chr10:96681222-96681223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191263567	chr10:96681247-96681248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535609534	chr10:96681285-96681286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369117215	chr10:96681306-96681307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575952070	chr10:96681321-96681322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140300491	chr10:96681345-96681346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs575520906	chr10:96681369-96681370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs71482324	chr10:96681376-96681377	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373233423	chr10:96681381-96681382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558108471	chr10:96681388-96681389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577983769	chr10:96681443-96681444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150749351	chr10:96681462-96681463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114466104	chr10:96681482-96681483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529407894	chr10:96681540-96681541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376592042	chr10:96681564-96681565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181242312	chr10:96681711-96681712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139868138	chr10:96681725-96681726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149833191	chr10:96681758-96681759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111813156	chr10:96681824-96681825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571533615	chr10:96681834-96681835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369380092	chr10:96681845-96681846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1074145	chr10:96681846-96681847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
43	rs540081682	chr10:96681895-96681896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547375447	chr10:96682004-96682005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186282977	chr10:96682011-96682012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535985136	chr10:96682020-96682021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115964714	chr10:96682069-96682070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74627839	chr10:96682129-96682130	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs538131802	chr10:96682171-96682172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75125863	chr10:96682178-96682179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96680800-96681400	ZNF genes & repeats	Fetal Intestine Small	intestine
2	chr10:96681000-96681400	ZNF genes & repeats	Fetal Intestine Large	intestine
3	chr10:96681400-96695600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:96684600-96685000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:96685000-96685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:96685200-96686000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:96695400-96696800	Enhancers	Liver	Liver
8	chr10:96695600-96697400	Enhancers	Fetal Intestine Small	intestine
9	chr10:96696800-96697400	Flanking Active TSS	Liver	Liver
10	chr10:96697400-96698000	Enhancers	Liver	Liver
11	chr10:96697400-96699600	Weak transcription	Fetal Intestine Small	intestine
12	chr10:96698000-96698200	Flanking Active TSS	Liver	Liver
13	chr10:96698200-96700600	Active TSS	Liver	Liver
14	chr10:96698400-96698600	Enhancers	Fetal Intestine Large	intestine
15	chr10:96698600-96699200	Active TSS	Duodenum Mucosa	Duodenum
16	chr10:96698600-96702000	Weak transcription	Fetal Intestine Large	intestine
17	chr10:96699200-96702800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:96699600-96699800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr10:96699600-96701600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:96700600-96700800	Flanking Active TSS	Liver	Liver
21	chr10:96700800-96702600	Transcr. at gene 5' and 3'	Liver	Liver
22	chr10:96701200-96702400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr10:96702000-96702600	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr10:96702600-96704400	Weak transcription	Fetal Intestine Large	intestine
25	chr10:96702600-96705000	Strong transcription	Liver	Liver
26	chr10:96703200-96703400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr10:96704400-96704800	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr10:96704400-96705400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:96704800-96710800	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96705000-96709000	Weak transcription	Liver	Liver
31	chr10:96709000-96710600	Strong transcription	Liver	Liver
32	chr10:96710600-96711400	Weak transcription	Liver	Liver
33	chr10:96711400-96714200	Strong transcription	Liver	Liver
34	chr10:96714200-96720200	Weak transcription	Liver	Liver
35	chr10:96718600-96737600	Weak transcription	Fetal Intestine Large	intestine
36	chr10:96719600-96720600	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr10:96720200-96720800	Genic enhancers	Liver	Liver
38	chr10:96720600-96723800	Weak transcription	Fetal Intestine Small	intestine
39	chr10:96720800-96722200	Weak transcription	Liver	Liver
40	chr10:96722200-96722600	Enhancers	Liver	Liver
41	chr10:96722600-96724800	Weak transcription	Liver	Liver
42	chr10:96723200-96723800	Enhancers	Stomach Mucosa	stomach
43	chr10:96723400-96723600	Enhancers	Gastric	stomach
44	chr10:96723400-96724200	Enhancers	A549	lung
45	chr10:96723800-96724000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:96723800-96724000	Enhancers	Fetal Intestine Small	intestine
47	chr10:96724800-96725400	Genic enhancers	Liver	Liver
48	chr10:96725400-96730600	Weak transcription	Liver	Liver
49	chr10:96730600-96738600	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links