Variant report

Variant	esv2829935
Chromosome Location	chr10:96521249-96547463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:185)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
2	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
3	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
4	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
5	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
9	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
10	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
11	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
12	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
13	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
14	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
15	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
17	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
18	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
19	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
20	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
21	POLR2A	chr10:96523762-96523895	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr10:96531769-96531782	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:96540283-96540416	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr10:96535019-96535071	A549	lung:	n/a	n/a
25	POLR2A	chr10:96521694-96521791	Gliobla	brain:	n/a	n/a
26	POLR2A	chr10:96546589-96546708	MCF10A-Er-Src	breast:	n/a	n/a
27	SPI1	chr10:96532136-96532291	K562	blood:	n/a	n/a
28	STAT3	chr10:96530184-96530295	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF12	chr10:96545034-96545375	SK-N-SH	brain:	n/a	n/a
30	YY1	chr10:96545474-96545699	K562	blood:	n/a	chr10:96545564-96545576
31	YY1	chr10:96545488-96545677	H1-hESC	embryonic stem cell:	n/a	chr10:96545564-96545576
32	ZNF143	chr10:96532094-96532295	H1-hESC	embryonic stem cell:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96523347-96523397	GM12891	blood:	n/a
2	chr10:96523347-96523397	HEK293	kidney:	embryo
3	chr10:96523347-96523397	GM12891	blood:	n/a
4	chr10:96523347-96523397	HEK293	kidney:	embryo
5	chr10:96523347-96523397	NT2-D1	testis:	n/a
6	chr10:96522433-96522483	U87	brain:	n/a
7	chr10:96523347-96523397	HRPEpiC	eye:	n/a
8	chr10:96522433-96522483	HUVEC	blood vessel:	n/a
9	chr10:96522433-96522483	AG04450	lung:	fetal
10	chr10:96522433-96522483	HCM	heart:	n/a
11	chr10:96523347-96523397	HRE	kidney:	n/a
12	chr10:96523248-96523298	PrEC	prostate:	n/a
13	chr10:96522433-96522483	A549	lung:	n/a
14	chr10:96523248-96523298	HCT-116	colon:	n/a
15	chr10:96522433-96522483	HPAEpiC	pulmonary alveolar:	n/a
16	chr10:96523248-96523298	HIPEpiC	eye:	n/a
17	chr10:96522433-96522483	HCPEpiC	choroid plexus:	n/a
18	chr10:96522433-96522483	SK-N-SH_RA	brain:	n/a
19	chr10:96523347-96523397	MCF-7	breast:	n/a
20	chr10:96523347-96523397	HMEC	breast:	n/a
21	chr10:96523248-96523298	HepG2	liver:	n/a
22	chr10:96523347-96523397	Caco-2	colon:	n/a
23	chr10:96523248-96523298	RPTEC	kidney:	n/a
24	chr10:96523248-96523298	HCF	heart:	n/a
25	chr10:96523347-96523397	BJ	skin:	n/a
26	chr10:96522433-96522483	BJ	skin:	n/a
27	chr10:96523248-96523298	HNPCEpiC	eye:	n/a
28	chr10:96522433-96522483	ovcar-3	ovarian:	n/a
29	chr10:96523347-96523397	CMK	blood:	n/a
30	chr10:96522433-96522483	HepG2	liver:	n/a
31	chr10:96523347-96523397	AoSMC	blood vessel:	n/a
32	chr10:96522433-96522483	IMR90	lung:	fetal
33	chr10:96522433-96522483	GM12892	blood:	n/a
34	chr10:96523347-96523397	HepG2	liver:	n/a
35	chr10:96523347-96523397	PANC-1	pancreas:	n/a
36	chr10:96523347-96523397	SAEC	small airway:	n/a
37	chr10:96523347-96523397	HL-60	blood:	n/a
38	chr10:96523347-96523397	H1-hESC	embryonic stem cell:	embryo
39	chr10:96522433-96522483	HCF	heart:	n/a
40	chr10:96523347-96523397	K562	blood:	n/a
41	chr10:96522433-96522483	AG04449	skin:	fetal
42	chr10:96523248-96523298	Hela-S3	cervix:	n/a
43	chr10:96523347-96523397	HNPCEpiC	eye:	n/a
44	chr10:96523347-96523397	U87	brain:	n/a
45	chr10:96523248-96523298	SAEC	small airway:	n/a
46	chr10:96523248-96523298	HCPEpiC	choroid plexus:	n/a
47	chr10:96523248-96523298	HCM	heart:	n/a
48	chr10:96523248-96523298	HUVEC	blood vessel:	n/a
49	chr10:96522433-96522483	HMEC	breast:	n/a
50	chr10:96523248-96523298	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
CYP2C19	TF binding region
MTND4P19	TF binding region
CYP2C19	CpG island
MTND4P19	CpG island

Extended variants
information (count: 1326 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1326 , 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	rs17885857	chr10:96521249-96521250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374423015	chr10:96521283-96521284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561071055	chr10:96521292-96521293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79235735	chr10:96521305-96521306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529667832	chr10:96521315-96521316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145831464	chr10:96521319-96521320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140164087	chr10:96521355-96521356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78574506	chr10:96521412-96521413	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7902257	chr10:96521422-96521423	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17882329	chr10:96521433-96521434	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544568096	chr10:96521520-96521521	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571807614	chr10:96521521-96521522	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77641351	chr10:96521529-96521530	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534167800	chr10:96521538-96521539	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149507916	chr10:96521539-96521540	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76822098	chr10:96521550-96521551	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186694202	chr10:96521557-96521558	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11568732	chr10:96521574-96521575	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs189584710	chr10:96521595-96521596	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576566073	chr10:96521619-96521620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545523674	chr10:96521625-96521626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76163838	chr10:96521630-96521631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540392908	chr10:96521631-96521632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74540884	chr10:96521635-96521636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12248560	chr10:96521657-96521658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11568729	chr10:96521680-96521681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181836375	chr10:96521685-96521686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561205449	chr10:96521686-96521687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185375194	chr10:96521688-96521689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11568734	chr10:96521722-96521723	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545933041	chr10:96521729-96521730	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs562945885	chr10:96521751-96521752	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs532025151	chr10:96521787-96521788	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551845739	chr10:96521811-96521812	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11568731	chr10:96521853-96521854	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147748472	chr10:96521856-96521857	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562336703	chr10:96521897-96521898	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527864492	chr10:96521902-96521903	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547696770	chr10:96521904-96521905	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180843451	chr10:96521910-96521911	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536956732	chr10:96521976-96521977	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556552918	chr10:96521989-96521990	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531372744	chr10:96522003-96522004	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186725940	chr10:96522009-96522010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191110263	chr10:96522058-96522059	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558997122	chr10:96522080-96522081	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183776188	chr10:96522091-96522092	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541184515	chr10:96522100-96522101	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187269368	chr10:96522107-96522108	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375863443	chr10:96522109-96522110	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96519600-96521400	Enhancers	Liver	Liver
2	chr10:96520800-96521400	Enhancers	Duodenum Mucosa	Duodenum
3	chr10:96521400-96521600	Flanking Active TSS	Liver	Liver
4	chr10:96521400-96522000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:96521600-96521800	Enhancers	Liver	Liver
6	chr10:96521800-96526000	Active TSS	Liver	Liver
7	chr10:96522000-96522200	Enhancers	Fetal Intestine Small	intestine
8	chr10:96522000-96525600	Active TSS	Duodenum Mucosa	Duodenum
9	chr10:96522200-96522400	Enhancers	Fetal Intestine Large	intestine
10	chr10:96522200-96522400	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr10:96522400-96523800	Active TSS	Fetal Intestine Small	intestine
12	chr10:96522400-96524000	Active TSS	Fetal Intestine Large	intestine
13	chr10:96522600-96523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:96522800-96523200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:96523200-96523600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:96523800-96524400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr10:96524200-96525600	Enhancers	Placenta	Placenta
18	chr10:96525200-96525600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:96525600-96539400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:96526000-96530600	Weak transcription	Liver	Liver
21	chr10:96526800-96534800	Weak transcription	Fetal Intestine Large	intestine
22	chr10:96529800-96530400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr10:96530400-96537600	Weak transcription	Fetal Intestine Small	intestine
24	chr10:96530600-96531600	Strong transcription	Liver	Liver
25	chr10:96531600-96535000	Weak transcription	Liver	Liver
26	chr10:96533000-96564600	Weak transcription	Gastric	stomach
27	chr10:96534800-96535800	Strong transcription	Fetal Intestine Large	intestine
28	chr10:96535000-96537800	Strong transcription	Liver	Liver
29	chr10:96535800-96537600	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96537600-96538000	Enhancers	Fetal Intestine Small	intestine
31	chr10:96537600-96538200	Enhancers	Fetal Intestine Large	intestine
32	chr10:96537800-96538200	Genic enhancers	Liver	Liver
33	chr10:96537800-96538200	Enhancers	Stomach Mucosa	stomach
34	chr10:96537800-96538200	Enhancers	HepG2	liver
35	chr10:96538000-96553400	Weak transcription	Fetal Intestine Small	intestine
36	chr10:96538200-96540400	Weak transcription	Fetal Intestine Large	intestine
37	chr10:96538200-96541400	Weak transcription	Stomach Mucosa	stomach
38	chr10:96538200-96543800	Strong transcription	Liver	Liver
39	chr10:96539400-96540800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr10:96540400-96542200	Strong transcription	Fetal Intestine Large	intestine
41	chr10:96540800-96547800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:96542200-96545400	Weak transcription	Fetal Intestine Large	intestine
43	chr10:96543800-96545200	Weak transcription	Liver	Liver
44	chr10:96545200-96549400	Strong transcription	Liver	Liver
45	chr10:96545400-96546000	Strong transcription	Fetal Intestine Large	intestine
46	chr10:96546000-96553600	Weak transcription	Fetal Intestine Large	intestine

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