Variant report

Variant	nsv893628
Chromosome Location	chr9:104555316-104649651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 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	chr9:104604440-104604568	K562	blood:	n/a	n/a
2	ARID3A	chr9:104603974-104604201	K562	blood:	n/a	n/a
3	ARID3A	chr9:104602870-104603634	K562	blood:	n/a	n/a
4	ARID3A	chr9:104604790-104605089	K562	blood:	n/a	n/a
5	ATF1	chr9:104602937-104603620	K562	blood:	n/a	n/a
6	ATF3	chr9:104602886-104603521	K562	blood:	n/a	n/a
7	BCL3	chr9:104603020-104603535	K562	blood:	n/a	n/a
8	BCLAF1	chr9:104602989-104603485	K562	blood:	n/a	n/a
9	BHLHE40	chr9:104602981-104603519	K562	blood:	n/a	n/a
10	BHLHE40	chr9:104641860-104641886	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:104603872-104603981	K562	blood:	n/a	n/a
12	BHLHE40	chr9:104629233-104629302	K562	blood:	n/a	n/a
13	CBX3	chr9:104602902-104603580	K562	blood:	n/a	n/a
14	CBX3	chr9:104601296-104601594	K562	blood:	n/a	n/a
15	CBX3	chr9:104602864-104603528	K562	blood:	n/a	n/a
16	CCNT2	chr9:104602949-104603796	K562	blood:	n/a	n/a
17	CEBPB	chr9:104571492-104571600	HepG2	liver:	n/a	chr9:104571514-104571525
18	CEBPB	chr9:104557453-104557803	HepG2	liver:	n/a	chr9:104557616-104557627
19	CEBPB	chr9:104603213-104603499	K562	blood:	n/a	n/a
20	CEBPB	chr9:104557426-104557815	K562	blood:	n/a	chr9:104557616-104557627
21	CEBPB	chr9:104586973-104587159	HepG2	liver:	n/a	chr9:104587024-104587035 chr9:104587023-104587034 chr9:104587023-104587034
22	CEBPB	chr9:104643971-104644157	K562	blood:	n/a	n/a
23	CEBPB	chr9:104557439-104557795	IMR90	lung:	n/a	chr9:104557616-104557627
24	CEBPB	chr9:104557424-104557737	A549	lung:	n/a	chr9:104557616-104557627
25	CEBPB	chr9:104557447-104557777	A549	lung:	n/a	chr9:104557616-104557627
26	CEBPB	chr9:104557510-104557633	K562	blood:	n/a	chr9:104557616-104557627
27	CEBPB	chr9:104557455-104557771	Hela-S3	cervix:	n/a	chr9:104557616-104557627
28	CEBPB	chr9:104597034-104597167	HepG2	liver:	n/a	chr9:104597125-104597136
29	CEBPB	chr9:104643934-104644220	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr9:104603004-104603626	K562	blood:	n/a	n/a
31	CEBPB	chr9:104596347-104596651	HepG2	liver:	n/a	chr9:104596523-104596534
32	CEBPB	chr9:104586855-104587085	K562	blood:	n/a	chr9:104587024-104587035 chr9:104587023-104587034 chr9:104587023-104587034
33	CEBPB	chr9:104557478-104557775	K562	blood:	n/a	chr9:104557616-104557627
34	CEBPB	chr9:104602919-104603627	K562	blood:	n/a	n/a
35	CEBPB	chr9:104557461-104557739	H1-hESC	embryonic stem cell:	n/a	chr9:104557616-104557627
36	CEBPD	chr9:104602898-104603672	K562	blood:	n/a	n/a
37	CEBPD	chr9:104602934-104603627	K562	blood:	n/a	n/a
38	CREB1	chr9:104603097-104603501	K562	blood:	n/a	n/a
39	CREB1	chr9:104602880-104603666	K562	blood:	n/a	n/a
40	CTCF	chr9:104605013-104605091	Gliobla	brain:	n/a	n/a
41	CTCF	chr9:104568020-104568170	HMF	breast:	n/a	n/a
42	CTCF	chr9:104605031-104605086	GM13976	blood:	n/a	n/a
43	CTCF	chr9:104604980-104605130	MCF-7	breast:	n/a	n/a
44	CTCF	chr9:104586540-104586690	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr9:104586489-104586713	K562	blood:	n/a	n/a
46	CTCF	chr9:104605029-104605071	MCF-7	breast:	n/a	n/a
47	CTCF	chr9:104604900-104605050	A549	lung:	n/a	n/a
48	CTCF	chr9:104631560-104631710	HEK293	kidney:	n/a	n/a
49	CTCF	chr9:104586460-104586610	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr9:104568088-104568296	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104600370..104602657-chr9:104607856..104609607,2	K562	blood:
2	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
3	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
4	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
5	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
6	chr10:86116689..86117545-chr9:104638316..104638864,2	MCF-7	breast:
7	chr9:104594444..104596154-chr9:104597009..104599073,2	MCF-7	breast:
8	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
9	chr9:104594444..104596154-chr9:104597009..104599073,2	MCF-7	breast:
10	chr10:26587616..26588136-chr9:104616741..104617261,2	MCF-7	breast:
11	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
12	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
13	chr9:104600370..104602657-chr9:104607856..104609607,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF20-4	chr9:104567913-104568131	NONHSAT133752
2	lnc-RNF20-4	chr9:104567769-104567808	NONHSAT133752

No data

Variant related genes	Relation type
MTND3P4	TF binding region

Extended variants
information (count: 1308 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1308 , 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	rs139209096	chr9:104557275-104557276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs571597412	chr9:104557285-104557286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs10989625	chr9:104557345-104557346	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112465773	chr9:104557350-104557351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553302428	chr9:104557393-104557394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142524953	chr9:104557416-104557417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553213493	chr9:104557445-104557446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377546299	chr9:104557500-104557501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs542267513	chr9:104557513-104557514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10989626	chr9:104557532-104557533	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575429134	chr9:104557580-104557581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544430646	chr9:104557599-104557600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564425358	chr9:104557603-104557604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577881418	chr9:104557639-104557640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182685397	chr9:104557646-104557647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187793041	chr9:104557656-104557657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191104196	chr9:104557683-104557684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547281990	chr9:104557693-104557694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113967000	chr9:104557712-104557713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs571814084	chr9:104557717-104557718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79059858	chr9:104557732-104557733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370309716	chr9:104557782-104557783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139584192	chr9:104558403-104558404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200762229	chr9:104558438-104558439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112607017	chr9:104558444-104558445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568933063	chr9:104558501-104558502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149741434	chr9:104558513-104558514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557841357	chr9:104558555-104558556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145666489	chr9:104558562-104558563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534177770	chr9:104558583-104558584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118136220	chr9:104558585-104558586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115837715	chr9:104558587-104558588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117044210	chr9:104558592-104558593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556147176	chr9:104558762-104558763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563292898	chr9:104559490-104559491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189187311	chr9:104559497-104559498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563334864	chr9:104559518-104559519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551521409	chr9:104559523-104559524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575449283	chr9:104565219-104565220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544874477	chr9:104565225-104565226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564652614	chr9:104565246-104565247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs10989629	chr9:104565285-104565286	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10760811	chr9:104565350-104565351	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373350226	chr9:104567782-104567783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs147544334	chr9:104567784-104567785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs562703442	chr9:104567796-104567797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs59298421	chr9:104567805-104567806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs74609254	chr9:104567806-104567807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs111837930	chr9:104567947-104567948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs112193472	chr9:104567970-104567971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104558400-104558800	Enhancers	A549	lung
2	chr9:104565200-104565400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:104576000-104576200	Enhancers	Gastric	stomach
4	chr9:104586200-104586600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:104591800-104598800	Weak transcription	Liver	Liver
6	chr9:104594400-104596000	Enhancers	Fetal Intestine Large	intestine
7	chr9:104594400-104596000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:104595000-104596000	Enhancers	Duodenum Mucosa	Duodenum
9	chr9:104595000-104596000	Enhancers	Fetal Intestine Small	intestine
10	chr9:104595200-104595400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr9:104595400-104598000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:104596000-104598000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:104596000-104598200	Weak transcription	Fetal Intestine Small	intestine
14	chr9:104597200-104599000	Enhancers	K562	blood
15	chr9:104598000-104598400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr9:104598000-104598400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:104598200-104598800	Enhancers	Fetal Intestine Small	intestine
18	chr9:104598800-104599000	ZNF genes & repeats	Liver	Liver
19	chr9:104599000-104599400	Weak transcription	Liver	Liver
20	chr9:104599000-104602000	Weak transcription	K562	blood
21	chr9:104602000-104603400	Enhancers	K562	blood
22	chr9:104603200-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:104603400-104604000	Flanking Active TSS	K562	blood
24	chr9:104603400-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:104604000-104604200	Enhancers	K562	blood
26	chr9:104604200-104610200	Weak transcription	K562	blood
27	chr9:104606600-104607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:104606800-104607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:104607600-104608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:104610000-104610600	Enhancers	Duodenum Mucosa	Duodenum
31	chr9:104610000-104612400	Enhancers	Fetal Intestine Large	intestine
32	chr9:104610000-104612400	Enhancers	Fetal Intestine Small	intestine
33	chr9:104610200-104610600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr9:104610200-104610600	Enhancers	K562	blood
35	chr9:104610400-104610600	Enhancers	Colonic Mucosa	Colon
36	chr9:104610400-104610600	Enhancers	Colon Smooth Muscle	Colon
37	chr9:104610400-104610800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:104610400-104610800	Enhancers	Small Intestine	intestine
39	chr9:104610400-104611000	Enhancers	Fetal Muscle Trunk	muscle
40	chr9:104610400-104611200	Enhancers	Adipose Nuclei	Adipose
41	chr9:104610600-104610800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr9:104610600-104610800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr9:104610600-104610800	Active TSS	Rectal Smooth Muscle	rectum
44	chr9:104610600-104611000	Flanking Active TSS	Colonic Mucosa	Colon
45	chr9:104610600-104611000	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr9:104610600-104611200	Flanking Active TSS	K562	blood
47	chr9:104610600-104611400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:104610600-104611800	Enhancers	Fetal Lung	lung
49	chr9:104610800-104611000	Active TSS	Duodenum Mucosa	Duodenum
50	chr9:104610800-104611000	Flanking Active TSS	Rectal Smooth Muscle	rectum

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