Variant report

Variant	nsv826612
Chromosome Location	chr13:37678673-37680292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr13:37680084-37680193	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr13:37679156-37679205	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr13:37679611-37679687	MCF-7	breast:	n/a	n/a
4	PRDM1	chr13:37679991-37680191	Hela-S3	cervix:	n/a	n/a
5	YY1	chr13:37679517-37679769	K562	blood:	n/a	n/a
6	YY1	chr13:37679616-37679886	H1-hESC	embryonic stem cell:	n/a	chr13:37679768-37679776 chr13:37679764-37679776 chr13:37679765-37679787 chr13:37679765-37679775 chr13:37679756-37679770 chr13:37679765-37679775 chr13:37679761-37679770
7	YY1	chr13:37679601-37679866	K562	blood:	n/a	chr13:37679768-37679776 chr13:37679764-37679776 chr13:37679765-37679787 chr13:37679765-37679775 chr13:37679756-37679770 chr13:37679765-37679775 chr13:37679761-37679770

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:37679324-37679374	HRE	kidney:	n/a
2	chr13:37679692-37679742	NHDF-neo	bronchial:	n/a
3	chr13:37679324-37679374	HRPEpiC	eye:	n/a
4	chr13:37679803-37679853	T-47D	breast:	n/a
5	chr13:37679692-37679742	U87	brain:	n/a
6	chr13:37679573-37679623	AG10803	skin:	n/a
7	chr13:37679692-37679742	BE2_C	brain:	n/a
8	chr13:37679692-37679742	HL-60	blood:	n/a
9	chr13:37679692-37679742	T-47D	breast:	n/a
10	chr13:37679692-37679742	HRCEpiC	kidney:	n/a
11	chr13:37679573-37679623	GM12891	blood:	n/a
12	chr13:37679951-37680001	AG09319	gingival:	n/a
13	chr13:37679692-37679742	HCF	heart:	n/a
14	chr13:37679978-37680028	CMK	blood:	n/a
15	chr13:37679978-37680028	ECC-1	luminal epithelium:	n/a
16	chr13:37679692-37679742	HIPEpiC	eye:	n/a
17	chr13:37679803-37679853	HUVEC	blood vessel:	n/a
18	chr13:37679803-37679853	HCF	heart:	n/a
19	chr13:37679573-37679623	SK-N-SH_RA	brain:	n/a
20	chr13:37679573-37679623	IMR90	lung:	fetal
21	chr13:37679951-37680001	NHBE	bronchial:	n/a
22	chr13:37679573-37679623	HRCEpiC	kidney:	n/a
23	chr13:37679573-37679623	NB4	blood:	n/a
24	chr13:37679978-37680028	AG04449	skin:	fetal
25	chr13:37679324-37679374	BE2_C	brain:	n/a
26	chr13:37679573-37679623	AG04449	skin:	fetal
27	chr13:37679951-37680001	GM12878	blood:	n/a
28	chr13:37679978-37680028	SKMC	muscle:	n/a
29	chr13:37679692-37679742	AG09309	skin:	n/a
30	chr13:37679573-37679623	NHBE	bronchial:	n/a
31	chr13:37679324-37679374	PANC-1	pancreas:	n/a
32	chr13:37679573-37679623	GM06990	blood:	n/a
33	chr13:37679573-37679623	ECC-1	luminal epithelium:	n/a
34	chr13:37679692-37679742	HEEpiC	esophagus:	n/a
35	chr13:37679951-37680001	ECC-1	luminal epithelium:	n/a
36	chr13:37679978-37680028	GM06990	blood:	n/a
37	chr13:37679951-37680001	HRPEpiC	eye:	n/a
38	chr13:37679692-37679742	ovcar-3	ovarian:	n/a
39	chr13:37679803-37679853	HEEpiC	esophagus:	n/a
40	chr13:37679803-37679853	AoSMC	blood vessel:	n/a
41	chr13:37679573-37679623	Hela-S3	cervix:	n/a
42	chr13:37679324-37679374	GM12878	blood:	n/a
43	chr13:37679692-37679742	ProgFib	skin:	n/a
44	chr13:37679978-37680028	HEK293	kidney:	embryo
45	chr13:37679951-37680001	MCF-7	breast:	n/a
46	chr13:37679573-37679623	ProgFib	skin:	n/a
47	chr13:37679573-37679623	T-47D	breast:	n/a
48	chr13:37679692-37679742	SAEC	small airway:	n/a
49	chr13:37679803-37679853	HCT-116	colon:	n/a
50	chr13:37679573-37679623	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
CSNK1A1L	TF binding region
CSNK1A1L	CpG island

Extended variants
information (count: 109 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564273735	chr13:37678682-37678683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142999830	chr13:37678683-37678684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548321174	chr13:37678690-37678691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56252523	chr13:37678704-37678705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369743261	chr13:37678710-37678711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17856820	chr13:37678720-37678721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148466411	chr13:37678727-37678728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141723161	chr13:37678729-37678730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56252856	chr13:37678735-37678736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111625960	chr13:37678741-37678742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373659592	chr13:37678753-37678754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs45550131	chr13:37678762-37678763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377590248	chr13:37678772-37678773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143974396	chr13:37678784-37678785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146416443	chr13:37678818-37678819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140942017	chr13:37678821-37678822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77843157	chr13:37678838-37678839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200212369	chr13:37678852-37678853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201136308	chr13:37678857-37678858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569931862	chr13:37678862-37678863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17054882	chr13:37678865-37678866	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200764582	chr13:37678879-37678880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17773251	chr13:37678884-37678885	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550035233	chr13:37678894-37678895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568346753	chr13:37678906-37678907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374584014	chr13:37678927-37678928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199515213	chr13:37678950-37678951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201851808	chr13:37678951-37678952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200541337	chr13:37678977-37678978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148865038	chr13:37678986-37678987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143609436	chr13:37678989-37678990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186444083	chr13:37678991-37678992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375626846	chr13:37679002-37679003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558439842	chr13:37679015-37679016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200018301	chr13:37679027-37679028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371113641	chr13:37679042-37679043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190849901	chr13:37679043-37679044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183000285	chr13:37679050-37679051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202243450	chr13:37679053-37679054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199770223	chr13:37679075-37679076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148050638	chr13:37679094-37679095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142352658	chr13:37679116-37679117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139953443	chr13:37679120-37679121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111291624	chr13:37679143-37679144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373997159	chr13:37679153-37679154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143150350	chr13:37679155-37679156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73547848	chr13:37679158-37679159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368176940	chr13:37679165-37679166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35223903	chr13:37679212-37679213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150428301	chr13:37679222-37679223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37673600-37680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:37675800-37679200	Weak transcription	Fetal Stomach	stomach
3	chr13:37677000-37680400	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:37677200-37680200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:37677200-37680400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:37677200-37680400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:37677400-37680600	Weak transcription	HSMMtube	muscle
8	chr13:37677800-37682200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:37678600-37680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:37679000-37679200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:37679000-37679400	Weak transcription	Spleen	Spleen
12	chr13:37679200-37679800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:37679200-37679800	ZNF genes & repeats	Fetal Stomach	stomach
14	chr13:37679400-37679800	ZNF genes & repeats	Spleen	Spleen
15	chr13:37679800-37680000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:37679800-37680000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:37679800-37681800	Weak transcription	Spleen	Spleen
18	chr13:37679800-37682800	Weak transcription	Fetal Stomach	stomach
19	chr13:37680200-37681600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:37680200-37682000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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