Variant report

Variant	nsv900904
Chromosome Location	chr13:93138577-93208593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:340)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:93181240-93181666	K562	blood:	n/a	n/a
2	ARID3A	chr13:93205976-93206287	K562	blood:	n/a	n/a
3	ARID3A	chr13:93207132-93207201	K562	blood:	n/a	n/a
4	ARID3A	chr13:93145745-93145975	K562	blood:	n/a	n/a
5	ARID3A	chr13:93185166-93185266	K562	blood:	n/a	n/a
6	ATF1	chr13:93202856-93203282	K562	blood:	n/a	n/a
7	ATF1	chr13:93161622-93161676	K562	blood:	n/a	n/a
8	ATF1	chr13:93162217-93163187	K562	blood:	n/a	n/a
9	ATF1	chr13:93145526-93146119	K562	blood:	n/a	n/a
10	ATF1	chr13:93181225-93181498	K562	blood:	n/a	n/a
11	ATF1	chr13:93159807-93159874	K562	blood:	n/a	n/a
12	ATF1	chr13:93181758-93181915	K562	blood:	n/a	n/a
13	ATF1	chr13:93186362-93186695	K562	blood:	n/a	n/a
14	ATF1	chr13:93200988-93201208	K562	blood:	n/a	n/a
15	ATF1	chr13:93194339-93195040	K562	blood:	n/a	n/a
16	ATF1	chr13:93207396-93207556	K562	blood:	n/a	n/a
17	ATF1	chr13:93154297-93154535	K562	blood:	n/a	n/a
18	BACH1	chr13:93143565-93143697	K562	blood:	n/a	n/a
19	BACH1	chr13:93185254-93185276	K562	blood:	n/a	n/a
20	BACH1	chr13:93187226-93187227	K562	blood:	n/a	n/a
21	BCL11A	chr13:93152577-93152713	H1-hESC	embryonic stem cell:	n/a	n/a
22	BHLHE40	chr13:93177016-93177038	K562	blood:	n/a	n/a
23	BHLHE40	chr13:93205840-93205887	K562	blood:	n/a	n/a
24	CCNT2	chr13:93190284-93190496	K562	blood:	n/a	n/a
25	CCNT2	chr13:93158046-93158285	K562	blood:	n/a	n/a
26	CCNT2	chr13:93207159-93207190	K562	blood:	n/a	n/a
27	CCNT2	chr13:93167895-93168649	K562	blood:	n/a	n/a
28	CCNT2	chr13:93180453-93180776	K562	blood:	n/a	n/a
29	CEBPB	chr13:93162609-93163258	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr13:93141235-93141435	A549	lung:	n/a	chr13:93141356-93141369 chr13:93141356-93141367
31	CEBPB	chr13:93141232-93141486	HepG2	liver:	n/a	chr13:93141356-93141369 chr13:93141356-93141367
32	CTCF	chr13:93182740-93182890	HMEC	breast:	n/a	n/a
33	CTCF	chr13:93182700-93182850	RPTEC	kidney:	n/a	n/a
34	CTCF	chr13:93198342-93198414	GM10266	blood:	n/a	n/a
35	CTCF	chr13:93182720-93182870	HPF	lung:	n/a	n/a
36	CTCF	chr13:93182793-93182952	GM12878	blood:	n/a	n/a
37	CTCF	chr13:93208339-93208504	K562	blood:	n/a	n/a
38	CTCF	chr13:93182780-93182930	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr13:93195760-93195910	K562	blood:	n/a	n/a
40	CTCF	chr13:93182732-93182900	LNCaP	prostate:	n/a	n/a
41	CTCF	chr13:93182720-93182870	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr13:93182780-93182930	HPF	lung:	n/a	n/a
43	CTCF	chr13:93150942-93150960	K562	blood:	n/a	n/a
44	CTCF	chr13:93182860-93183010	HCM	heart:	n/a	n/a
45	CTCF	chr13:93182700-93182850	K562	blood:	n/a	n/a
46	CTCF	chr13:93182727-93182928	LNCaP	prostate:	n/a	n/a
47	CTCF	chr13:93182780-93182930	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr13:93182619-93182870	T-47D	breast:	n/a	n/a
49	CTCF	chr13:93182773-93182860	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr13:93182686-93182921	IMR90	lung:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:93142214..93145104-chr13:93152778..93154703,2	K562	blood:
2	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
3	chr13:93187246..93189629-chr13:93231804..93233615,2	K562	blood:
4	chr13:93132949..93134764-chr13:93137221..93138765,2	K562	blood:
5	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
6	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
7	chr13:92839375..92840322-chr13:93182374..93183100,3	MCF-7	breast:
8	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
9	chr13:93142513..93146637-chr13:93148342..93150196,3	K562	blood:
10	chr13:93193686..93196509-chr13:93200416..93203528,3	K562	blood:
11	chr13:93208360..93208885-chr15:100314006..100314703,2	MCF-7	breast:
12	chr13:93181636..93184594-chr13:93227863..93230266,2	K562	blood:
13	chr13:93141901..93144013-chr13:93148357..93150275,2	K562	blood:
14	chr13:93194848..93196683-chr13:93226882..93229093,2	K562	blood:
15	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:
16	chr13:93164068..93165858-chr13:93167124..93168943,2	K562	blood:
17	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
18	chr13:93142513..93146637-chr13:93148342..93150196,3	K562	blood:
19	chr13:93175770..93178293-chr13:93185133..93187097,2	K562	blood:
20	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-2	chr13:93161766-93162347	ENSG00000236240.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548as-5p	chr13:93142416-93142437	MIMAT0022267
hsa-miR-548as-3p	chr13:93142452-93142473	MIMAT0022268

No data

Variant related genes	Relation type
MIR548AS	TF binding region
ENSG00000263741	chromatin interactions

Extended variants
information (count: 1199 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs993485	chr13:93138577-93138578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550467574	chr13:93138646-93138647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567106070	chr13:93138681-93138682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530944062	chr13:93138698-93138699	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530551156	chr13:93138707-93138708	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553045494	chr13:93138716-93138717	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542446566	chr13:93138723-93138724	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538611333	chr13:93138778-93138779	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7992087	chr13:93138814-93138815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs367545516	chr13:93138869-93138870	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs71427577	chr13:93138948-93138949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550952108	chr13:93138952-93138953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574489545	chr13:93138978-93138979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190000409	chr13:93138982-93138983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181711594	chr13:93138998-93138999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146959051	chr13:93139065-93139066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71671851	chr13:93139114-93139115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117361652	chr13:93139136-93139137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559448602	chr13:93139140-93139141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137863242	chr13:93139153-93139154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141639458	chr13:93139170-93139171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7328646	chr13:93139177-93139178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560120155	chr13:93139191-93139192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150519668	chr13:93139205-93139206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550827670	chr13:93139227-93139228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567168956	chr13:93139230-93139231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529826984	chr13:93139251-93139252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546694727	chr13:93139253-93139254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532288891	chr13:93139254-93139255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566599902	chr13:93139284-93139285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539042418	chr13:93139345-93139346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114208761	chr13:93139389-93139390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35586210	chr13:93139407-93139408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34752251	chr13:93139422-93139423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117578930	chr13:93139434-93139435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138633785	chr13:93139449-93139450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555293938	chr13:93139474-93139475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575096678	chr13:93139488-93139489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534343211	chr13:93139519-93139520	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553124346	chr13:93139577-93139578	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186816723	chr13:93139598-93139599	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs141904884	chr13:93139610-93139611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190055578	chr13:93139631-93139632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs146240739	chr13:93139633-93139634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544139704	chr13:93139662-93139663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs139315689	chr13:93139683-93139684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529863118	chr13:93139686-93139687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs116419149	chr13:93139692-93139693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144243611	chr13:93139714-93139715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs80063849	chr13:93139777-93139778	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93138400-93138800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:93138400-93142600	Weak transcription	Brain Germinal Matrix	brain
3	chr13:93140200-93140600	Enhancers	Fetal Brain Male	brain
4	chr13:93142600-93142800	Enhancers	Brain Germinal Matrix	brain
5	chr13:93148600-93149200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:93148800-93149200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:93148800-93149200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:93148800-93149200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:93149200-93150400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:93149200-93152400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:93150400-93150600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:93150400-93151000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:93152200-93153000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:93152400-93153000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:93152400-93153000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:93152400-93153200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:93152400-93153200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:93152400-93153600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:93152800-93153000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr13:93152800-93153200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:93153000-93160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr13:93156800-93157000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:93157000-93165200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:93160200-93160400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:93160600-93164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:93161200-93161800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:93161800-93162800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:93162000-93163600	Enhancers	NHEK	skin
29	chr13:93162400-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:93162600-93163000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:93162600-93163000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:93162600-93163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr13:93162600-93163200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr13:93162600-93163200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:93162600-93163200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:93162600-93163200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:93162600-93163200	Enhancers	HMEC	breast
38	chr13:93162600-93163200	Enhancers	NH-A	brain
39	chr13:93162800-93163200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:93162800-93163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:93162800-93163200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:93162800-93163400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:93163000-93163200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:93163200-93164200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:93163200-93164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:93163200-93165000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:93163200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:93163200-93165200	Weak transcription	NH-A	brain
49	chr13:93163200-93166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:93163600-93164000	Weak transcription	NHEK	skin

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