Variant report

Variant	nsv983615
Chromosome Location	chr13:95410835-95413290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:95410779-95410835	Kidney_OC	kidney:	n/a	n/a
2	E2F6	chr13:95411540-95411670	K562	blood:	n/a	chr13:95411544-95411553
3	FOS	chr13:95411709-95411920	MCF10A-Er-Src	breast:	n/a	n/a
4	KAP1	chr13:95410426-95411395	HEK293	kidney:	n/a	n/a
5	KAP1	chr13:95410754-95411400	U2OS	brain:	n/a	n/a
6	SETDB1	chr13:95410481-95411460	U2OS	brain:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:95412246-95412296	HEK293	kidney:	embryo
2	chr13:95412246-95412296	PrEC	prostate:	n/a
3	chr13:95411394-95411444	GM19239	blood:	n/a
4	chr13:95411654-95411704	BJ	skin:	n/a
5	chr13:95412246-95412296	Jurkat	blood:	n/a
6	chr13:95411654-95411704	HRCEpiC	kidney:	n/a
7	chr13:95412246-95412296	AG09309	skin:	n/a
8	chr13:95412246-95412296	HNPCEpiC	eye:	n/a
9	chr13:95411394-95411444	HCPEpiC	choroid plexus:	n/a
10	chr13:95411654-95411704	NH-A	brain:	n/a
11	chr13:95411504-95411554	NHBE	bronchial:	n/a
12	chr13:95411504-95411554	GM12892	blood:	n/a
13	chr13:95411654-95411704	AG09309	skin:	n/a
14	chr13:95412246-95412296	SK-N-SH_RA	brain:	n/a
15	chr13:95411504-95411554	PFSK-1	brain:	n/a
16	chr13:95412246-95412296	SK-N-MC	brain:	n/a
17	chr13:95411504-95411554	U87	brain:	n/a
18	chr13:95411394-95411444	HEK293	kidney:	embryo
19	chr13:95411394-95411444	NHBE	bronchial:	n/a
20	chr13:95411504-95411554	HIPEpiC	eye:	n/a
21	chr13:95411504-95411554	ProgFib	skin:	n/a
22	chr13:95411394-95411444	AG09309	skin:	n/a
23	chr13:95411654-95411704	Caco-2	colon:	n/a
24	chr13:95411504-95411554	AG09309	skin:	n/a
25	chr13:95411654-95411704	SAEC	small airway:	n/a
26	chr13:95411394-95411444	HCT-116	colon:	n/a
27	chr13:95411654-95411704	PANC-1	pancreas:	n/a
28	chr13:95411504-95411554	GM06990	blood:	n/a
29	chr13:95411654-95411704	A549	lung:	n/a
30	chr13:95411504-95411554	HMEC	breast:	n/a
31	chr13:95411654-95411704	GM12891	blood:	n/a
32	chr13:95411394-95411444	PrEC	prostate:	n/a
33	chr13:95411394-95411444	NH-A	brain:	n/a
34	chr13:95411504-95411554	AG04450	lung:	fetal
35	chr13:95411394-95411444	GM06990	blood:	n/a
36	chr13:95412246-95412296	AG04449	skin:	fetal
37	chr13:95411504-95411554	AG10803	skin:	n/a
38	chr13:95411394-95411444	SK-N-SH_RA	brain:	n/a
39	chr13:95412246-95412296	HepG2	liver:	n/a
40	chr13:95411394-95411444	AG09319	gingival:	n/a
41	chr13:95411504-95411554	PANC-1	pancreas:	n/a
42	chr13:95411504-95411554	GM12878	blood:	n/a
43	chr13:95411394-95411444	BJ	skin:	n/a
44	chr13:95412246-95412296	HPAEpiC	pulmonary alveolar:	n/a
45	chr13:95411394-95411444	PFSK-1	brain:	n/a
46	chr13:95411654-95411704	CMK	blood:	n/a
47	chr13:95411654-95411704	Jurkat	blood:	n/a
48	chr13:95411394-95411444	HPAEpiC	pulmonary alveolar:	n/a
49	chr13:95412246-95412296	GM06990	blood:	n/a
50	chr13:95411504-95411554	HL-60	blood:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR180-2	chr13:95413195-95413306	NONHSAT034743
2	lnc-GPR180-2	chr13:95413195-95413306	ENSG00000250280
3	lnc-SOX21-4	chr13:95412807-95413269	NONHSAT034742

No data

Variant related genes	Relation type
RPL21P112	TF binding region
BRD7P5	TF binding region
RPL21P112	CpG island
BRD7P5	CpG island
RNF213	miRNA target sites

Extended variants
information (count: 102 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188791713	chr13:95410851-95410852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79225777	chr13:95410861-95410862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549955135	chr13:95410867-95410868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569839947	chr13:95410972-95410973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529247877	chr13:95411004-95411005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1830706	chr13:95411010-95411011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs181275484	chr13:95411101-95411102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113717964	chr13:95411104-95411105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554281359	chr13:95411122-95411123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570929994	chr13:95411131-95411132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539605884	chr13:95411262-95411263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556758497	chr13:95411265-95411266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151170224	chr13:95411278-95411279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542145065	chr13:95411283-95411284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555655720	chr13:95411287-95411288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1924075	chr13:95411309-95411310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1924076	chr13:95411339-95411340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74104391	chr13:95411355-95411356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533086512	chr13:95411364-95411365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74104393	chr13:95411380-95411381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73558360	chr13:95411390-95411391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187134368	chr13:95411422-95411423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9516470	chr13:95411450-95411451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs202213646	chr13:95411560-95411561	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552529283	chr13:95411570-95411571	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367860632	chr13:95411571-95411572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377652318	chr13:95411577-95411578	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191621454	chr13:95411588-95411589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527640835	chr13:95411592-95411593	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7330924	chr13:95411600-95411601	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570847904	chr13:95411620-95411621	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539971242	chr13:95411635-95411636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7329702	chr13:95411656-95411657	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140154285	chr13:95411692-95411693	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs535672719	chr13:95411695-95411696	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs555594228	chr13:95411745-95411746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572414509	chr13:95411750-95411751	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534307494	chr13:95411767-95411768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs557778403	chr13:95411802-95411803	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544765954	chr13:95411841-95411842	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183484670	chr13:95411860-95411861	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543536765	chr13:95411868-95411869	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs538831497	chr13:95411874-95411875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs372247489	chr13:95411940-95411941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1885993	chr13:95411980-95411981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374614582	chr13:95412000-95412001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559648245	chr13:95412024-95412025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528436829	chr13:95412062-95412063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547472079	chr13:95412066-95412067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79571495	chr13:95412124-95412125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95409600-95412800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:95410600-95413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:95412600-95413600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:95412800-95413200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:95412800-95413200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:95412800-95413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:95412800-95413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:95412800-95413800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr13:95412800-95414400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:95412800-95414600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:95413000-95413800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:95413000-95414200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:95413200-95413800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:95413200-95414000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:95413200-95414200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr13:95413200-95414600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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