Variant report

Variant	nsv1039655
Chromosome Location	chr10:18252931-18348954
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	ATF2	chr10:18296796-18297081	GM12878	blood:	n/a	n/a
2	ATF2	chr10:18278682-18279295	GM12878	blood:	n/a	n/a
3	ATF2	chr10:18296857-18297128	GM12878	blood:	n/a	n/a
4	ATF2	chr10:18272952-18273589	GM12878	blood:	n/a	n/a
5	ATF2	chr10:18272935-18273641	GM12878	blood:	n/a	n/a
6	ATF2	chr10:18278751-18279180	GM12878	blood:	n/a	n/a
7	BACH1	chr10:18270669-18271137	H1-hESC	embryonic stem cell:	n/a	chr10:18270865-18270879
8	BATF	chr10:18272975-18273411	GM12878	blood:	n/a	chr10:18273193-18273204
9	BATF	chr10:18296766-18297214	GM12878	blood:	n/a	n/a
10	BATF	chr10:18332633-18332897	GM12878	blood:	n/a	chr10:18332746-18332757
11	BATF	chr10:18296850-18297100	GM12878	blood:	n/a	n/a
12	BATF	chr10:18279380-18279576	GM12878	blood:	n/a	chr10:18279485-18279495 chr10:18279484-18279495 chr10:18279467-18279478 chr10:18279468-18279478
13	BATF	chr10:18272934-18273403	GM12878	blood:	n/a	chr10:18273193-18273204 chr10:18272963-18272971
14	BATF	chr10:18278714-18279153	GM12878	blood:	n/a	n/a
15	BATF	chr10:18332607-18332876	GM12878	blood:	n/a	chr10:18332746-18332757
16	BATF	chr10:18278787-18279057	GM12878	blood:	n/a	n/a
17	BCL11A	chr10:18296753-18297194	GM12878	blood:	n/a	n/a
18	BCL11A	chr10:18272957-18273390	GM12878	blood:	n/a	chr10:18273197-18273206 chr10:18273196-18273205
19	BCL11A	chr10:18272912-18273511	GM12878	blood:	n/a	chr10:18273197-18273206 chr10:18273196-18273205
20	BCL11A	chr10:18278704-18279127	GM12878	blood:	n/a	n/a
21	BCL11A	chr10:18278744-18279032	GM12878	blood:	n/a	n/a
22	BCL3	chr10:18296862-18297066	GM12878	blood:	n/a	n/a
23	BCL3	chr10:18273040-18273358	GM12878	blood:	n/a	chr10:18273197-18273206 chr10:18273196-18273205
24	BCL3	chr10:18296794-18297061	GM12878	blood:	n/a	n/a
25	BCL3	chr10:18278708-18279158	GM12878	blood:	n/a	n/a
26	BCLAF1	chr10:18278753-18279081	GM12878	blood:	n/a	n/a
27	BCLAF1	chr10:18272921-18273452	GM12878	blood:	n/a	chr10:18273197-18273206 chr10:18273196-18273205
28	BCLAF1	chr10:18278675-18279188	GM12878	blood:	n/a	n/a
29	BHLHE40	chr10:18278725-18279169	GM12878	blood:	n/a	n/a
30	BHLHE40	chr10:18272903-18273479	GM12878	blood:	n/a	n/a
31	BRCA1	chr10:18282326-18282689	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr10:18279251-18279793	HCT-116	colon:	n/a	n/a
33	CEBPB	chr10:18253558-18253769	HepG2	liver:	n/a	n/a
34	CEBPB	chr10:18272879-18273468	HCT-116	colon:	n/a	n/a
35	CEBPB	chr10:18272711-18273459	HCT-116	colon:	n/a	n/a
36	CEBPB	chr10:18273523-18273868	HepG2	liver:	n/a	chr10:18273691-18273702
37	CEBPB	chr10:18273141-18273868	A549	lung:	n/a	chr10:18273691-18273702
38	CEBPB	chr10:18282251-18282741	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr10:18348934-18349299	K562	blood:	n/a	chr10:18349139-18349150 chr10:18349138-18349149 chr10:18349140-18349149
40	CEBPB	chr10:18294657-18295079	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr10:18299024-18299356	IMR90	lung:	n/a	chr10:18299182-18299199 chr10:18299183-18299194
42	CEBPB	chr10:18288464-18288697	IMR90	lung:	n/a	chr10:18288576-18288589 chr10:18288576-18288589 chr10:18288577-18288588 chr10:18288576-18288587 chr10:18288547-18288555
43	CEBPB	chr10:18288415-18288704	HepG2	liver:	n/a	chr10:18288576-18288589 chr10:18288576-18288589 chr10:18288577-18288588 chr10:18288576-18288587 chr10:18288547-18288555
44	CEBPB	chr10:18282358-18282752	IMR90	lung:	n/a	n/a
45	CEBPB	chr10:18268393-18268651	HepG2	liver:	n/a	chr10:18268473-18268484
46	CEBPB	chr10:18298972-18299375	Hela-S3	cervix:	n/a	chr10:18299182-18299199 chr10:18299183-18299194
47	CEBPB	chr10:18268313-18268609	A549	lung:	n/a	chr10:18268473-18268484
48	CEBPB	chr10:18279235-18279666	HCT-116	colon:	n/a	n/a
49	CEBPB	chr10:18273455-18273938	A549	lung:	n/a	chr10:18273691-18273702
50	CEBPB	chr10:18279301-18279651	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:18331664-18331714	HL-60	blood:	n/a
2	chr10:18331664-18331714	HL-60	blood:	n/a
3	chr10:18331664-18331714	PANC-1	pancreas:	n/a
4	chr10:18348426-18348476	HRCEpiC	kidney:	n/a
5	chr10:18270704-18270754	Jurkat	blood:	n/a
6	chr10:18270704-18270754	HL-60	blood:	n/a
7	chr10:18348426-18348476	NB4	blood:	n/a
8	chr10:18270704-18270754	HEEpiC	esophagus:	n/a
9	chr10:18294563-18294613	HNPCEpiC	eye:	n/a
10	chr10:18270704-18270754	ovcar-3	ovarian:	n/a
11	chr10:18334434-18334484	CMK	blood:	n/a
12	chr10:18348426-18348476	HRPEpiC	eye:	n/a
13	chr10:18270704-18270754	HCT-116	colon:	n/a
14	chr10:18348426-18348476	AoSMC	blood vessel:	n/a
15	chr10:18334434-18334484	HRCEpiC	kidney:	n/a
16	chr10:18331664-18331714	GM12892	blood:	n/a
17	chr10:18331664-18331714	SKMC	muscle:	n/a
18	chr10:18270704-18270754	PANC-1	pancreas:	n/a
19	chr10:18334434-18334484	PrEC	prostate:	n/a
20	chr10:18348426-18348476	GM19239	blood:	n/a
21	chr10:18334434-18334484	HRPEpiC	eye:	n/a
22	chr10:18348426-18348476	MCF-7	breast:	n/a
23	chr10:18294563-18294613	GM12891	blood:	n/a
24	chr10:18334434-18334484	HL-60	blood:	n/a
25	chr10:18331664-18331714	HCM	heart:	n/a
26	chr10:18348426-18348476	SK-N-SH_RA	brain:	n/a
27	chr10:18334434-18334484	HRE	kidney:	n/a
28	chr10:18294563-18294613	SK-N-SH	brain:	n/a
29	chr10:18294563-18294613	HMEC	breast:	n/a
30	chr10:18348426-18348476	GM06990	blood:	n/a
31	chr10:18331664-18331714	SK-N-SH_RA	brain:	n/a
32	chr10:18334434-18334484	HNPCEpiC	eye:	n/a
33	chr10:18334434-18334484	ECC-1	luminal epithelium:	n/a
34	chr10:18331664-18331714	PrEC	prostate:	n/a
35	chr10:18270704-18270754	Caco-2	colon:	n/a
36	chr10:18294563-18294613	PANC-1	pancreas:	n/a
37	chr10:18331664-18331714	Caco-2	colon:	n/a
38	chr10:18294563-18294613	HIPEpiC	eye:	n/a
39	chr10:18348426-18348476	NHDF-neo	bronchial:	n/a
40	chr10:18270704-18270754	HCM	heart:	n/a
41	chr10:18334434-18334484	HCPEpiC	choroid plexus:	n/a
42	chr10:18331664-18331714	ovcar-3	ovarian:	n/a
43	chr10:18348426-18348476	AG09309	skin:	n/a
44	chr10:18334434-18334484	Caco-2	colon:	n/a
45	chr10:18270704-18270754	SK-N-MC	brain:	n/a
46	chr10:18348426-18348476	BJ	skin:	n/a
47	chr10:18334434-18334484	HCM	heart:	n/a
48	chr10:18334434-18334484	HIPEpiC	eye:	n/a
49	chr10:18348426-18348476	HUVEC	blood vessel:	n/a
50	chr10:18331664-18331714	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18263243..18266172-chr12:133262422..133264353,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC39A12	hsa-miR-335-5p	chr10:18331977-18331999

Variant related genes	Relation type
SLC39A12-AS1	TF binding region
SLC39A12-AS1	CpG island
ENSG00000177084	chromatin interactions
ENSG00000176894	chromatin interactions

Extended variants
information (count: 3274 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:3274 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139914218	chr10:18252981-18252982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527870965	chr10:18252988-18252989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115412031	chr10:18253018-18253019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186324408	chr10:18253031-18253032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546575857	chr10:18253032-18253033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552804723	chr10:18253037-18253038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150772806	chr10:18253038-18253039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12262907	chr10:18253092-18253093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538615109	chr10:18253279-18253280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16916691	chr10:18253351-18253352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568204702	chr10:18253358-18253359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116499486	chr10:18253362-18253363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536490293	chr10:18253367-18253368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554703435	chr10:18253407-18253408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573005255	chr10:18253478-18253479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540341489	chr10:18253517-18253518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558926501	chr10:18253614-18253615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149819075	chr10:18253629-18253630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144757774	chr10:18253682-18253683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1443498	chr10:18253761-18253762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12359511	chr10:18253762-18253763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190818478	chr10:18253771-18253772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115188064	chr10:18253791-18253792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113337772	chr10:18253808-18253809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546342019	chr10:18253819-18253820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571301186	chr10:18253851-18253852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373368215	chr10:18253865-18253866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34520334	chr10:18253876-18253877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183016949	chr10:18253914-18253915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569219840	chr10:18253917-18253918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs691563	chr10:18253922-18253923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370997833	chr10:18253933-18253934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144249633	chr10:18253997-18253998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566691065	chr10:18254028-18254029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534387508	chr10:18254052-18254053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11011748	chr10:18254060-18254061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577264678	chr10:18254062-18254063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544318911	chr10:18254081-18254082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199512712	chr10:18254082-18254083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556555043	chr10:18254095-18254096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75519999	chr10:18254108-18254109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58388847	chr10:18254128-18254129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs200508112	chr10:18254136-18254137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561075475	chr10:18254145-18254146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377505218	chr10:18254154-18254155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7917739	chr10:18254156-18254157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548099875	chr10:18254158-18254159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140007147	chr10:18254214-18254215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550165883	chr10:18254216-18254217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185947295	chr10:18254217-18254218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18249400-18258200	Weak transcription	Brain Substantia Nigra	brain
2	chr10:18250200-18253200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:18252400-18254400	Weak transcription	Fetal Lung	lung
4	chr10:18252800-18254400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:18254200-18255400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr10:18254400-18254600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:18254400-18255400	Enhancers	Fetal Lung	lung
8	chr10:18254600-18255000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:18254600-18255200	Enhancers	Colon Smooth Muscle	Colon
10	chr10:18254800-18255200	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:18263400-18263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:18263400-18263800	Enhancers	NHEK	skin
13	chr10:18266800-18270200	Weak transcription	Aorta	Aorta
14	chr10:18266800-18276400	Weak transcription	Brain Substantia Nigra	brain
15	chr10:18268400-18269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:18268600-18268800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:18268600-18270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:18268600-18271600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:18268600-18271800	Enhancers	Osteobl	bone
20	chr10:18268800-18270000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:18269000-18271200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:18269200-18269600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:18269600-18270600	Enhancers	NH-A	brain
24	chr10:18269600-18271000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:18269600-18271600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:18269600-18271600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:18269600-18271800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:18269600-18271800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:18269600-18271800	Enhancers	NHDF-Ad	bronchial
30	chr10:18269800-18270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:18269800-18270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:18269800-18271400	Enhancers	Rectal Smooth Muscle	rectum
33	chr10:18269800-18271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:18269800-18271800	Enhancers	NHLF	lung
35	chr10:18270000-18271200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:18270000-18271200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr10:18270000-18271200	Enhancers	HSMM	muscle
38	chr10:18270000-18271600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:18270000-18271800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:18270200-18270600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr10:18270200-18270600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:18270200-18271000	Enhancers	Aorta	Aorta
43	chr10:18270200-18271200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:18270200-18271200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:18270200-18271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:18270200-18271600	Enhancers	NHEK	skin
47	chr10:18270200-18271800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr10:18270400-18271400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:18270400-18271400	Enhancers	Hela-S3	cervix
50	chr10:18270600-18270800	Flanking Active TSS	NH-A	brain

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