Variant report

Variant	nsv1049341
Chromosome Location	chr10:96416809-96471236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:549)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 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	chr10:96447569-96447764	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:96440204-96440693	HepG2	liver:	n/a	n/a
3	ATF1	chr10:96433424-96433649	K562	blood:	n/a	n/a
4	ATF3	chr10:96433388-96433701	HCT-116	colon:	n/a	n/a
5	BCL3	chr10:96440125-96440773	A549	lung:	n/a	n/a
6	BRCA1	chr10:96440359-96440638	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:96438283-96438592	IMR90	lung:	n/a	chr10:96438440-96438451
8	CEBPB	chr10:96440328-96440581	HepG2	liver:	n/a	chr10:96440500-96440511
9	CEBPB	chr10:96440255-96440680	Hela-S3	cervix:	n/a	chr10:96440500-96440511
10	CEBPB	chr10:96437529-96437557	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr10:96440321-96440589	IMR90	lung:	n/a	chr10:96440500-96440511
12	CEBPB	chr10:96426220-96426538	HepG2	liver:	n/a	chr10:96426349-96426360
13	CEBPB	chr10:96440287-96440606	MCF-7	breast:	n/a	chr10:96440500-96440511
14	CEBPB	chr10:96426231-96426446	H1-hESC	embryonic stem cell:	n/a	chr10:96426349-96426360
15	CEBPB	chr10:96440269-96440616	HepG2	liver:	n/a	chr10:96440500-96440511
16	CEBPB	chr10:96433387-96433694	HepG2	liver:	n/a	n/a
17	CEBPB	chr10:96452997-96453294	HepG2	liver:	n/a	chr10:96453142-96453153
18	CEBPB	chr10:96438271-96438623	HepG2	liver:	n/a	chr10:96438440-96438451
19	CEBPB	chr10:96436301-96436615	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr10:96440299-96440668	HepG2	liver:	n/a	chr10:96440500-96440511
21	CEBPB	chr10:96440103-96440886	A549	lung:	n/a	chr10:96440500-96440511
22	CEBPB	chr10:96440358-96440615	MCF-7	breast:	n/a	chr10:96440500-96440511
23	CEBPB	chr10:96453074-96453300	K562	blood:	n/a	chr10:96453142-96453153
24	CEBPB	chr10:96426194-96426529	A549	lung:	n/a	chr10:96426349-96426360
25	CEBPB	chr10:96440251-96440706	A549	lung:	n/a	chr10:96440500-96440511
26	CEBPB	chr10:96433362-96433720	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr10:96440242-96440692	HepG2	liver:	n/a	chr10:96440500-96440511
28	CEBPB	chr10:96433393-96433726	A549	lung:	n/a	n/a
29	CEBPB	chr10:96433429-96433686	IMR90	lung:	n/a	n/a
30	CEBPB	chr10:96440299-96440699	A549	lung:	n/a	chr10:96440500-96440511
31	CEBPB	chr10:96426245-96426536	IMR90	lung:	n/a	chr10:96426349-96426360
32	CEBPB	chr10:96433472-96433592	K562	blood:	n/a	n/a
33	CEBPB	chr10:96438272-96438617	A549	lung:	n/a	chr10:96438440-96438451
34	CEBPB	chr10:96438306-96438602	Hela-S3	cervix:	n/a	chr10:96438440-96438451
35	CEBPD	chr10:96440299-96440574	HepG2	liver:	n/a	n/a
36	CREB1	chr10:96440311-96440767	HepG2	liver:	n/a	n/a
37	CREB1	chr10:96440361-96440702	HepG2	liver:	n/a	n/a
38	CTCF	chr10:96437520-96437670	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr10:96437560-96437710	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr10:96437540-96437690	SAEC	small airway:	n/a	n/a
41	CTCF	chr10:96437461-96437812	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr10:96437540-96437690	GM12869	blood:	n/a	n/a
43	CTCF	chr10:96437607-96437668	GM19238	blood:	n/a	n/a
44	CTCF	chr10:96437540-96437715	MCF-7	breast:	n/a	n/a
45	CTCF	chr10:96437540-96437690	HepG2	liver:	n/a	n/a
46	CTCF	chr10:96437660-96437810	BE2_C	brain:	n/a	n/a
47	CTCF	chr10:96437560-96437710	SAEC	small airway:	n/a	n/a
48	CTCF	chr10:96437559-96437723	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr10:96437560-96437710	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr10:96437620-96437770	GM12870	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96442154-96442204	HRE	kidney:	n/a
2	chr10:96443071-96443121	AG09309	skin:	n/a
3	chr10:96443383-96443433	SK-N-SH_RA	brain:	n/a
4	chr10:96443383-96443433	HMEC	breast:	n/a
5	chr10:96442674-96442724	BE2_C	brain:	n/a
6	chr10:96442031-96442081	AG04450	lung:	fetal
7	chr10:96446783-96446833	SK-N-MC	brain:	n/a
8	chr10:96442674-96442724	NHDF-neo	bronchial:	n/a
9	chr10:96443165-96443215	T-47D	breast:	n/a
10	chr10:96443383-96443433	Jurkat	blood:	n/a
11	chr10:96447464-96447514	HCF	heart:	n/a
12	chr10:96443195-96443245	HPAEpiC	pulmonary alveolar:	n/a
13	chr10:96446783-96446833	HAEpiC	amniotic membrane:	n/a
14	chr10:96442674-96442724	HRE	kidney:	n/a
15	chr10:96442154-96442204	U87	brain:	n/a
16	chr10:96442674-96442724	SK-N-SH_RA	brain:	n/a
17	chr10:96446783-96446833	NT2-D1	testis:	n/a
18	chr10:96442154-96442204	GM12878	blood:	n/a
19	chr10:96442674-96442724	HUVEC	blood vessel:	n/a
20	chr10:96443071-96443121	Hela-S3	cervix:	n/a
21	chr10:96443195-96443245	ECC-1	luminal epithelium:	n/a
22	chr10:96443383-96443433	HRPEpiC	eye:	n/a
23	chr10:96443165-96443215	AG09309	skin:	n/a
24	chr10:96447464-96447514	SK-N-MC	brain:	n/a
25	chr10:96442674-96442724	Caco-2	colon:	n/a
26	chr10:96443165-96443215	Hela-S3	cervix:	n/a
27	chr10:96446783-96446833	K562	blood:	n/a
28	chr10:96447464-96447514	GM12891	blood:	n/a
29	chr10:96443071-96443121	SK-N-SH_RA	brain:	n/a
30	chr10:96442031-96442081	GM12892	blood:	n/a
31	chr10:96442674-96442724	T-47D	breast:	n/a
32	chr10:96443383-96443433	SK-N-MC	brain:	n/a
33	chr10:96443071-96443121	NHBE	bronchial:	n/a
34	chr10:96446783-96446833	Hepatocyte	liver:	n/a
35	chr10:96442674-96442724	NB4	blood:	n/a
36	chr10:96442154-96442204	HCT-116	colon:	n/a
37	chr10:96443383-96443433	HCT-116	colon:	n/a
38	chr10:96442031-96442081	GM12878	blood:	n/a
39	chr10:96443195-96443245	GM12891	blood:	n/a
40	chr10:96443383-96443433	MCF-7	breast:	n/a
41	chr10:96443195-96443245	T-47D	breast:	n/a
42	chr10:96443383-96443433	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:96443383-96443433	MCF10A-Er-Src	breast:	n/a
44	chr10:96442031-96442081	Hepatocyte	liver:	n/a
45	chr10:96442154-96442204	AoSMC	blood vessel:	n/a
46	chr10:96443071-96443121	H1-hESC	embryonic stem cell:	embryo
47	chr10:96447464-96447514	CMK	blood:	n/a
48	chr10:96447464-96447514	HRE	kidney:	n/a
49	chr10:96446783-96446833	BJ	skin:	n/a
50	chr10:96442674-96442724	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96429982..96431947-chr10:96435733..96437659,2	K562	blood:
2	chr10:96429982..96431947-chr10:96435733..96437659,2	K562	blood:

No data

Variant related genes	Relation type
CYP2C18	TF binding region
CYP2C19	TF binding region
CYP2C18	CpG island
CYP2C19	CpG island

Extended variants
information (count: 2049 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2049 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542002115	chr10:96422225-96422226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561847070	chr10:96422226-96422227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191171426	chr10:96422234-96422235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544232522	chr10:96422258-96422259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373136017	chr10:96422260-96422261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115113336	chr10:96422272-96422273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183302046	chr10:96422377-96422378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548454170	chr10:96422385-96422386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560453844	chr10:96422430-96422431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186879610	chr10:96422467-96422468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141293206	chr10:96422475-96422476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189719400	chr10:96422490-96422491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541309179	chr10:96422537-96422538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551393771	chr10:96422563-96422564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537141507	chr10:96422581-96422582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551014062	chr10:96422591-96422592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183301122	chr10:96422592-96422593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539422026	chr10:96422597-96422598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553270224	chr10:96422600-96422601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187792652	chr10:96422649-96422650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535696225	chr10:96422659-96422660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113167070	chr10:96422710-96422711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145080284	chr10:96422730-96422731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575752831	chr10:96422744-96422745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543974215	chr10:96422757-96422758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555462425	chr10:96422763-96422764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192905668	chr10:96422779-96422780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577728257	chr10:96422800-96422801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368395169	chr10:96422807-96422808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540219724	chr10:96422819-96422820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560472663	chr10:96422820-96422821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529200804	chr10:96422832-96422833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542848640	chr10:96422833-96422834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562553199	chr10:96422845-96422846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531489863	chr10:96422848-96422849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550820300	chr10:96422849-96422850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570580438	chr10:96422852-96422853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368075137	chr10:96422878-96422879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112399628	chr10:96422886-96422887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185318048	chr10:96422897-96422898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566862536	chr10:96422901-96422902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146719179	chr10:96422907-96422908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535752438	chr10:96422915-96422916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555978650	chr10:96422920-96422921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569372260	chr10:96422964-96422965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148885425	chr10:96422998-96422999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557602401	chr10:96423070-96423071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2094295	chr10:96423101-96423102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2209671	chr10:96423125-96423126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188596610	chr10:96423126-96423127	Enhancers Weak transcription	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96422200-96423800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:96422600-96423000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr10:96422600-96423400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr10:96422600-96423600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:96422600-96423800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:96422800-96423600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:96422800-96423800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:96422800-96423800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:96423000-96423200	Enhancers	Gastric	stomach
10	chr10:96423000-96423400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:96423000-96424000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:96423200-96423600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr10:96423200-96424200	Weak transcription	Gastric	stomach
14	chr10:96423400-96423600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:96423400-96423800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:96423400-96424000	Enhancers	Stomach Mucosa	stomach
17	chr10:96423600-96426200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:96423800-96424200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:96424000-96426200	Weak transcription	Stomach Mucosa	stomach
20	chr10:96424200-96424400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:96424200-96424600	Enhancers	Gastric	stomach
22	chr10:96424400-96424600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:96424600-96424800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:96424600-96434200	Weak transcription	Gastric	stomach
25	chr10:96426000-96426600	Enhancers	Fetal Intestine Large	intestine
26	chr10:96426200-96426400	Enhancers	Duodenum Mucosa	Duodenum
27	chr10:96426200-96426600	Enhancers	Fetal Intestine Small	intestine
28	chr10:96426200-96426800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:96426200-96426800	Enhancers	Stomach Mucosa	stomach
30	chr10:96426200-96433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:96426800-96430400	Weak transcription	Stomach Mucosa	stomach
32	chr10:96430400-96431800	Enhancers	Stomach Mucosa	stomach
33	chr10:96431800-96433400	Weak transcription	Stomach Mucosa	stomach
34	chr10:96433400-96433800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:96433400-96438200	Enhancers	Stomach Mucosa	stomach
36	chr10:96433800-96434000	Enhancers	Fetal Intestine Small	intestine
37	chr10:96434000-96436400	Weak transcription	Fetal Intestine Small	intestine
38	chr10:96434200-96434400	Enhancers	Gastric	stomach
39	chr10:96434400-96435000	Weak transcription	Gastric	stomach
40	chr10:96435000-96435200	Enhancers	Gastric	stomach
41	chr10:96435200-96444800	Weak transcription	Gastric	stomach
42	chr10:96435800-96439600	Enhancers	Liver	Liver
43	chr10:96436000-96443400	Enhancers	Fetal Intestine Large	intestine
44	chr10:96436200-96436400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr10:96436400-96436600	Enhancers	Small Intestine	intestine
46	chr10:96436400-96437200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr10:96436400-96442000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr10:96436600-96437400	Weak transcription	Small Intestine	intestine
49	chr10:96436600-96437800	Enhancers	Duodenum Mucosa	Duodenum
50	chr10:96436600-96437800	Enhancers	Rectal Mucosa Donor 31	rectum

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