Variant report

Variant	esv2761617
Chromosome Location	chr10:96495189-96548785
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	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
2	CEBPB	chr10:96520891-96521011	IMR90	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
3	CEBPB	chr10:96520862-96521099	HepG2	liver:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
4	CEBPB	chr10:96520913-96521049	A549	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
5	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
6	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
7	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
8	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
12	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
14	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
15	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
16	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
19	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
20	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
21	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
22	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
25	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
26	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
27	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
28	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
29	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
30	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
31	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
32	NR3C1	chr10:96507640-96508067	A549	lung:	n/a	chr10:96507892-96507906
33	NR3C1	chr10:96507795-96507991	A549	lung:	n/a	chr10:96507892-96507906
34	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
35	NR3C1	chr10:96507806-96508040	A549	lung:	n/a	chr10:96507892-96507906
36	POLR2A	chr10:96540283-96540416	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr10:96531769-96531782	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:96521694-96521791	Gliobla	brain:	n/a	n/a
39	POLR2A	chr10:96512093-96512164	A549	lung:	n/a	n/a
40	POLR2A	chr10:96517925-96517936	MCF-7	breast:	n/a	n/a
41	POLR2A	chr10:96546589-96546708	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:96523762-96523895	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:96535019-96535071	A549	lung:	n/a	n/a
44	POLR2A	chr10:96512941-96513075	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr10:96512025-96512058	A549	lung:	n/a	n/a
46	SPI1	chr10:96532136-96532291	K562	blood:	n/a	n/a
47	STAT3	chr10:96505694-96505767	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr10:96506579-96506641	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr10:96530184-96530295	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr10:96545034-96545375	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96523248-96523298	HAEpiC	amniotic membrane:	n/a
2	chr10:96522433-96522483	HPAEpiC	pulmonary alveolar:	n/a
3	chr10:96521152-96521202	AG10803	skin:	n/a
4	chr10:96521152-96521202	H1-hESC	embryonic stem cell:	embryo
5	chr10:96521152-96521202	HL-60	blood:	n/a
6	chr10:96523347-96523397	GM12891	blood:	n/a
7	chr10:96521086-96521136	Caco-2	colon:	n/a
8	chr10:96521086-96521136	Jurkat	blood:	n/a
9	chr10:96522433-96522483	Jurkat	blood:	n/a
10	chr10:96523347-96523397	SK-N-SH	brain:	n/a
11	chr10:96521152-96521202	HMEC	breast:	n/a
12	chr10:96521086-96521136	K562	blood:	n/a
13	chr10:96521086-96521136	NT2-D1	testis:	n/a
14	chr10:96523248-96523298	HPAEpiC	pulmonary alveolar:	n/a
15	chr10:96521152-96521202	ProgFib	skin:	n/a
16	chr10:96523347-96523397	HCM	heart:	n/a
17	chr10:96523347-96523397	PFSK-1	brain:	n/a
18	chr10:96521086-96521136	GM12891	blood:	n/a
19	chr10:96521152-96521202	Hela-S3	cervix:	n/a
20	chr10:96523248-96523298	BJ	skin:	n/a
21	chr10:96523248-96523298	AG04450	lung:	fetal
22	chr10:96523248-96523298	GM06990	blood:	n/a
23	chr10:96521086-96521136	A549	lung:	n/a
24	chr10:96521086-96521136	HCF	heart:	n/a
25	chr10:96521152-96521202	AG09309	skin:	n/a
26	chr10:96521086-96521136	GM19239	blood:	n/a
27	chr10:96521086-96521136	PANC-1	pancreas:	n/a
28	chr10:96521086-96521136	AG04449	skin:	fetal
29	chr10:96522433-96522483	HIPEpiC	eye:	n/a
30	chr10:96521152-96521202	HCPEpiC	choroid plexus:	n/a
31	chr10:96521152-96521202	NHDF-neo	bronchial:	n/a
32	chr10:96521152-96521202	A549	lung:	n/a
33	chr10:96523347-96523397	MCF-7	breast:	n/a
34	chr10:96523347-96523397	SKMC	muscle:	n/a
35	chr10:96523248-96523298	SKMC	muscle:	n/a
36	chr10:96523248-96523298	PFSK-1	brain:	n/a
37	chr10:96522433-96522483	HepG2	liver:	n/a
38	chr10:96523347-96523397	HepG2	liver:	n/a
39	chr10:96523248-96523298	HNPCEpiC	eye:	n/a
40	chr10:96521152-96521202	AG09319	gingival:	n/a
41	chr10:96521086-96521136	NB4	blood:	n/a
42	chr10:96521152-96521202	SK-N-SH_RA	brain:	n/a
43	chr10:96521152-96521202	GM12891	blood:	n/a
44	chr10:96521086-96521136	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:96523347-96523397	ProgFib	skin:	n/a
46	chr10:96522433-96522483	NB4	blood:	n/a
47	chr10:96521152-96521202	GM19239	blood:	n/a
48	chr10:96523347-96523397	SK-N-SH_RA	brain:	n/a
49	chr10:96522433-96522483	ovcar-3	ovarian:	n/a
50	chr10:96521086-96521136	PFSK-1	brain:	n/a

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

Extended variants
information (count: 2496 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2496 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184489530	chr10:96495207-96495208	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2860840	chr10:96495232-96495233	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs531076517	chr10:96495251-96495252	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543988958	chr10:96495264-96495265	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3740367	chr10:96495266-96495267	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs1042192	chr10:96495284-96495285	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs566420409	chr10:96495291-96495292	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74696697	chr10:96495311-96495312	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549008165	chr10:96495330-96495331	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568847355	chr10:96495341-96495342	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537972253	chr10:96495368-96495369	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557566667	chr10:96495373-96495374	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571078555	chr10:96495401-96495402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs41291552	chr10:96495410-96495411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190761792	chr10:96495481-96495482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1042194	chr10:96495484-96495485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs546657533	chr10:96495515-96495516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76680226	chr10:96495555-96495556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541850421	chr10:96495557-96495558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181997244	chr10:96495587-96495588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575629338	chr10:96495616-96495617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs41291554	chr10:96495627-96495628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563907800	chr10:96495645-96495646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532973234	chr10:96495690-96495691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558092998	chr10:96495694-96495695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550037194	chr10:96495701-96495702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560181718	chr10:96495714-96495715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556607090	chr10:96495726-96495727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140228918	chr10:96495747-96495748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1326830	chr10:96495793-96495794	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs568862836	chr10:96495845-96495846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115365853	chr10:96495885-96495886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551516236	chr10:96495933-96495934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143598670	chr10:96495949-96495950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184577978	chr10:96495982-96495983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553572323	chr10:96496059-96496060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574853529	chr10:96496088-96496089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567039247	chr10:96496110-96496111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540083562	chr10:96496173-96496174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189044494	chr10:96496305-96496306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146802383	chr10:96496309-96496310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575611926	chr10:96496310-96496311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544262403	chr10:96496347-96496348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553953143	chr10:96496407-96496408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140620656	chr10:96496427-96496428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181238069	chr10:96496430-96496431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185286600	chr10:96496468-96496469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560327016	chr10:96496470-96496471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545527643	chr10:96496502-96496503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573830161	chr10:96496527-96496528	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
Schizophrenia	20967226	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96447200-96504800	Weak transcription	Stomach Mucosa	stomach
2	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:96494400-96495400	Genic enhancers	Liver	Liver
5	chr10:96495400-96497000	Weak transcription	Liver	Liver
6	chr10:96497000-96498800	Enhancers	Liver	Liver
7	chr10:96498800-96500200	Weak transcription	Liver	Liver
8	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
9	chr10:96500200-96500800	Strong transcription	Liver	Liver
10	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
11	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr10:96501000-96501400	Strong transcription	Liver	Liver
14	chr10:96501400-96502000	Weak transcription	Liver	Liver
15	chr10:96502000-96503600	Strong transcription	Liver	Liver
16	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
17	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr10:96503600-96504400	Genic enhancers	Liver	Liver
19	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr10:96504400-96505000	Weak transcription	Liver	Liver
21	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
23	chr10:96505000-96506400	Enhancers	Liver	Liver
24	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
25	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
26	chr10:96506400-96507600	Enhancers	A549	lung
27	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
28	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
29	chr10:96507600-96508000	Flanking Active TSS	A549	lung
30	chr10:96508000-96509600	Enhancers	Liver	Liver
31	chr10:96509600-96517400	Weak transcription	Liver	Liver
32	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
33	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
34	chr10:96511800-96512200	Enhancers	Placenta	Placenta
35	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
36	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
39	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr10:96517600-96518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr10:96517600-96518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:96517800-96518200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr10:96517800-96518200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr10:96517800-96518200	ZNF genes & repeats	Fetal Stomach	stomach
47	chr10:96518000-96518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:96518200-96518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr10:96518200-96519600	Weak transcription	Liver	Liver
50	chr10:96519200-96519400	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links