Variant report

Variant	nsv1043604
Chromosome Location	chr10:96424393-96486504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:549)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 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	chr10:96433429-96433686	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:96440103-96440886	A549	lung:	n/a	chr10:96440500-96440511
10	CEBPB	chr10:96485737-96485940	A549	lung:	n/a	n/a
11	CEBPB	chr10:96440242-96440692	HepG2	liver:	n/a	chr10:96440500-96440511
12	CEBPB	chr10:96436301-96436615	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr10:96440287-96440606	MCF-7	breast:	n/a	chr10:96440500-96440511
14	CEBPB	chr10:96433393-96433726	A549	lung:	n/a	n/a
15	CEBPB	chr10:96440251-96440706	A549	lung:	n/a	chr10:96440500-96440511
16	CEBPB	chr10:96485747-96485947	IMR90	lung:	n/a	n/a
17	CEBPB	chr10:96440299-96440668	HepG2	liver:	n/a	chr10:96440500-96440511
18	CEBPB	chr10:96426231-96426446	H1-hESC	embryonic stem cell:	n/a	chr10:96426349-96426360
19	CEBPB	chr10:96453074-96453300	K562	blood:	n/a	chr10:96453142-96453153
20	CEBPB	chr10:96438271-96438623	HepG2	liver:	n/a	chr10:96438440-96438451
21	CEBPB	chr10:96452997-96453294	HepG2	liver:	n/a	chr10:96453142-96453153
22	CEBPB	chr10:96437529-96437557	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr10:96433387-96433694	HepG2	liver:	n/a	n/a
24	CEBPB	chr10:96440328-96440581	HepG2	liver:	n/a	chr10:96440500-96440511
25	CEBPB	chr10:96440269-96440616	HepG2	liver:	n/a	chr10:96440500-96440511
26	CEBPB	chr10:96438306-96438602	Hela-S3	cervix:	n/a	chr10:96438440-96438451
27	CEBPB	chr10:96438272-96438617	A549	lung:	n/a	chr10:96438440-96438451
28	CEBPB	chr10:96433472-96433592	K562	blood:	n/a	n/a
29	CEBPB	chr10:96426194-96426529	A549	lung:	n/a	chr10:96426349-96426360
30	CEBPB	chr10:96440255-96440680	Hela-S3	cervix:	n/a	chr10:96440500-96440511
31	CEBPB	chr10:96440299-96440699	A549	lung:	n/a	chr10:96440500-96440511
32	CEBPB	chr10:96426220-96426538	HepG2	liver:	n/a	chr10:96426349-96426360
33	CEBPB	chr10:96433362-96433720	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr10:96426245-96426536	IMR90	lung:	n/a	chr10:96426349-96426360
35	CEBPB	chr10:96440358-96440615	MCF-7	breast:	n/a	chr10:96440500-96440511
36	CEBPB	chr10:96440321-96440589	IMR90	lung:	n/a	chr10:96440500-96440511
37	CEBPB	chr10:96485885-96485913	K562	blood:	n/a	n/a
38	CEBPD	chr10:96440299-96440574	HepG2	liver:	n/a	n/a
39	CREB1	chr10:96440361-96440702	HepG2	liver:	n/a	n/a
40	CREB1	chr10:96440311-96440767	HepG2	liver:	n/a	n/a
41	CTCF	chr10:96437500-96437650	HMF	breast:	n/a	n/a
42	CTCF	chr10:96437580-96437730	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr10:96437488-96437824	HepG2	liver:	n/a	n/a
44	CTCF	chr10:96437560-96437710	GM12868	blood:	n/a	n/a
45	CTCF	chr10:96437540-96437690	HCFaa	heart:	n/a	n/a
46	CTCF	chr10:96437577-96437718	Gliobla	brain:	n/a	n/a
47	CTCF	chr10:96437559-96437723	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr10:96437520-96437670	HMEC	breast:	n/a	n/a
49	CTCF	chr10:96437580-96437730	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr10:96437279-96437925	A549	lung:	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	chr10:96443195-96443245	ECC-1	luminal epithelium:	n/a
2	chr10:96442031-96442081	MCF-7	breast:	n/a
3	chr10:96443165-96443215	AG09309	skin:	n/a
4	chr10:96443195-96443245	GM12878	blood:	n/a
5	chr10:96442674-96442724	LNCaP	prostate:	n/a
6	chr10:96442674-96442724	MCF10A-Er-Src	breast:	n/a
7	chr10:96443195-96443245	Jurkat	blood:	n/a
8	chr10:96442154-96442204	NT2-D1	testis:	n/a
9	chr10:96443195-96443245	HCF	heart:	n/a
10	chr10:96443383-96443433	HNPCEpiC	eye:	n/a
11	chr10:96446783-96446833	HRCEpiC	kidney:	n/a
12	chr10:96442031-96442081	HCT-116	colon:	n/a
13	chr10:96443071-96443121	MCF-7	breast:	n/a
14	chr10:96443165-96443215	HCPEpiC	choroid plexus:	n/a
15	chr10:96442031-96442081	AG10803	skin:	n/a
16	chr10:96443165-96443215	HNPCEpiC	eye:	n/a
17	chr10:96443165-96443215	NH-A	brain:	n/a
18	chr10:96443071-96443121	AG10803	skin:	n/a
19	chr10:96443071-96443121	PANC-1	pancreas:	n/a
20	chr10:96443383-96443433	HAEpiC	amniotic membrane:	n/a
21	chr10:96443165-96443215	K562	blood:	n/a
22	chr10:96446783-96446833	NHBE	bronchial:	n/a
23	chr10:96443383-96443433	ProgFib	skin:	n/a
24	chr10:96443071-96443121	NH-A	brain:	n/a
25	chr10:96443195-96443245	GM12891	blood:	n/a
26	chr10:96442154-96442204	ECC-1	luminal epithelium:	n/a
27	chr10:96442154-96442204	GM12891	blood:	n/a
28	chr10:96447464-96447514	AG10803	skin:	n/a
29	chr10:96443195-96443245	HRPEpiC	eye:	n/a
30	chr10:96443195-96443245	MCF10A-Er-Src	breast:	n/a
31	chr10:96442674-96442724	GM12891	blood:	n/a
32	chr10:96446783-96446833	AG04449	skin:	fetal
33	chr10:96447464-96447514	HEK293	kidney:	embryo
34	chr10:96442154-96442204	HIPEpiC	eye:	n/a
35	chr10:96442674-96442724	NB4	blood:	n/a
36	chr10:96442154-96442204	HNPCEpiC	eye:	n/a
37	chr10:96442674-96442724	U87	brain:	n/a
38	chr10:96447464-96447514	PANC-1	pancreas:	n/a
39	chr10:96443071-96443121	HNPCEpiC	eye:	n/a
40	chr10:96447464-96447514	GM12892	blood:	n/a
41	chr10:96442674-96442724	SAEC	small airway:	n/a
42	chr10:96443195-96443245	NH-A	brain:	n/a
43	chr10:96447464-96447514	GM06990	blood:	n/a
44	chr10:96442154-96442204	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:96443383-96443433	AG04450	lung:	fetal
46	chr10:96447464-96447514	HIPEpiC	eye:	n/a
47	chr10:96443383-96443433	SKMC	muscle:	n/a
48	chr10:96443165-96443215	HUVEC	blood vessel:	n/a
49	chr10:96447464-96447514	GM19239	blood:	n/a
50	chr10:96442031-96442081	GM06990	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:
2	chr10:96429982..96431947-chr10:96435733..96437659,2	K562	blood:
3	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:
4	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: 2597 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2597 , 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	rs138692196	chr10:96424431-96424432	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74419074	chr10:96424439-96424440	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs58262373	chr10:96424440-96424441	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111863664	chr10:96424543-96424544	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542695938	chr10:96424554-96424555	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542863149	chr10:96424612-96424613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531561510	chr10:96424623-96424624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190534675	chr10:96424638-96424639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373360961	chr10:96424653-96424654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374589191	chr10:96424654-96424655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527924974	chr10:96424657-96424658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59907366	chr10:96424661-96424662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372129799	chr10:96424662-96424663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199837318	chr10:96424664-96424665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56121331	chr10:96424665-96424666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567287233	chr10:96424668-96424669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61886191	chr10:96424669-96424670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201307872	chr10:96424672-96424673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7072154	chr10:96424673-96424674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7897050	chr10:96424677-96424678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373294315	chr10:96424681-96424682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559365592	chr10:96424685-96424686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558456401	chr10:96424689-96424690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565617064	chr10:96424699-96424700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534552992	chr10:96424705-96424706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112421394	chr10:96424710-96424711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55700528	chr10:96424712-96424713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148358415	chr10:96424713-96424714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144204116	chr10:96424715-96424716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58984186	chr10:96424738-96424739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112940556	chr10:96424793-96424794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181975399	chr10:96424794-96424795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74348269	chr10:96424811-96424812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576401704	chr10:96424815-96424816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186309690	chr10:96424829-96424830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79305535	chr10:96424869-96424870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146545741	chr10:96424878-96424879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77432589	chr10:96424882-96424883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7072203	chr10:96424884-96424885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566440406	chr10:96424897-96424898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189852272	chr10:96425009-96425010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182748126	chr10:96425047-96425048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546267857	chr10:96425065-96425066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140038115	chr10:96425080-96425081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143677127	chr10:96425090-96425091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548738994	chr10:96425140-96425141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58691803	chr10:96425144-96425145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534613432	chr10:96425151-96425152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554522633	chr10:96425158-96425159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571046140	chr10:96425179-96425180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	17431168	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96423600-96426200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr10:96424000-96426200	Weak transcription	Stomach Mucosa	stomach
3	chr10:96424200-96424400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:96424200-96424600	Enhancers	Gastric	stomach
5	chr10:96424400-96424600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:96424600-96424800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:96424600-96434200	Weak transcription	Gastric	stomach
8	chr10:96426000-96426600	Enhancers	Fetal Intestine Large	intestine
9	chr10:96426200-96426400	Enhancers	Duodenum Mucosa	Duodenum
10	chr10:96426200-96426600	Enhancers	Fetal Intestine Small	intestine
11	chr10:96426200-96426800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr10:96426200-96426800	Enhancers	Stomach Mucosa	stomach
13	chr10:96426200-96433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:96426800-96430400	Weak transcription	Stomach Mucosa	stomach
15	chr10:96430400-96431800	Enhancers	Stomach Mucosa	stomach
16	chr10:96431800-96433400	Weak transcription	Stomach Mucosa	stomach
17	chr10:96433400-96433800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:96433400-96438200	Enhancers	Stomach Mucosa	stomach
19	chr10:96433800-96434000	Enhancers	Fetal Intestine Small	intestine
20	chr10:96434000-96436400	Weak transcription	Fetal Intestine Small	intestine
21	chr10:96434200-96434400	Enhancers	Gastric	stomach
22	chr10:96434400-96435000	Weak transcription	Gastric	stomach
23	chr10:96435000-96435200	Enhancers	Gastric	stomach
24	chr10:96435200-96444800	Weak transcription	Gastric	stomach
25	chr10:96435800-96439600	Enhancers	Liver	Liver
26	chr10:96436000-96443400	Enhancers	Fetal Intestine Large	intestine
27	chr10:96436200-96436400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr10:96436400-96436600	Enhancers	Small Intestine	intestine
29	chr10:96436400-96437200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr10:96436400-96442000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:96436600-96437400	Weak transcription	Small Intestine	intestine
32	chr10:96436600-96437800	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:96436600-96437800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr10:96436600-96437800	Enhancers	Hela-S3	cervix
35	chr10:96437200-96437800	Enhancers	HepG2	liver
36	chr10:96437200-96439800	Enhancers	Fetal Intestine Small	intestine
37	chr10:96437400-96437600	Enhancers	Small Intestine	intestine
38	chr10:96437400-96439800	Enhancers	A549	lung
39	chr10:96437600-96439800	Weak transcription	Small Intestine	intestine
40	chr10:96437800-96439600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:96437800-96439600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:96437800-96439600	Weak transcription	HepG2	liver
43	chr10:96437800-96440200	Weak transcription	Hela-S3	cervix
44	chr10:96438200-96439200	Weak transcription	Stomach Mucosa	stomach
45	chr10:96439200-96440000	Enhancers	Stomach Mucosa	stomach
46	chr10:96439600-96440200	Flanking Active TSS	Liver	Liver
47	chr10:96439600-96440200	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:96439600-96442800	Enhancers	HepG2	liver
49	chr10:96439600-96443200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr10:96439800-96440000	Enhancers	Pancreatic Islets	Pancreatic Islet

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