Variant report

Variant	nsv948197
Chromosome Location	chr10:118952172-118956180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:118954277-118954284	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr10:118952339-118952527	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:118956011-118956061	HAEpiC	amniotic membrane:	n/a
2	chr10:118956011-118956061	HAEpiC	amniotic membrane:	n/a
3	chr10:118956023-118956073	HNPCEpiC	eye:	n/a
4	chr10:118956011-118956061	ovcar-3	ovarian:	n/a
5	chr10:118956011-118956061	HRE	kidney:	n/a
6	chr10:118956011-118956061	AG09319	gingival:	n/a
7	chr10:118956023-118956073	PANC-1	pancreas:	n/a
8	chr10:118956011-118956061	HCPEpiC	choroid plexus:	n/a
9	chr10:118956011-118956061	HCT-116	colon:	n/a
10	chr10:118956011-118956061	NHBE	bronchial:	n/a
11	chr10:118956011-118956061	GM06990	blood:	n/a
12	chr10:118956023-118956073	AG04449	skin:	fetal
13	chr10:118956023-118956073	GM12891	blood:	n/a
14	chr10:118956011-118956061	Jurkat	blood:	n/a
15	chr10:118956011-118956061	Caco-2	colon:	n/a
16	chr10:118956023-118956073	HCPEpiC	choroid plexus:	n/a
17	chr10:118956023-118956073	K562	blood:	n/a
18	chr10:118956023-118956073	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:118956023-118956073	AG09309	skin:	n/a
20	chr10:118956011-118956061	GM12892	blood:	n/a
21	chr10:118956011-118956061	GM19239	blood:	n/a
22	chr10:118956023-118956073	SK-N-MC	brain:	n/a
23	chr10:118956011-118956061	K562	blood:	n/a
24	chr10:118956011-118956061	H1-hESC	embryonic stem cell:	embryo
25	chr10:118956023-118956073	BJ	skin:	n/a
26	chr10:118956023-118956073	ovcar-3	ovarian:	n/a
27	chr10:118956011-118956061	SKMC	muscle:	n/a
28	chr10:118956023-118956073	HEEpiC	esophagus:	n/a
29	chr10:118956023-118956073	MCF-7	breast:	n/a
30	chr10:118956011-118956061	HEK293	kidney:	embryo
31	chr10:118956023-118956073	SK-N-SH_RA	brain:	n/a
32	chr10:118956023-118956073	CMK	blood:	n/a
33	chr10:118956023-118956073	PFSK-1	brain:	n/a
34	chr10:118956011-118956061	NT2-D1	testis:	n/a
35	chr10:118956023-118956073	HCT-116	colon:	n/a
36	chr10:118956011-118956061	HRCEpiC	kidney:	n/a
37	chr10:118956023-118956073	HCM	heart:	n/a
38	chr10:118956023-118956073	SAEC	small airway:	n/a
39	chr10:118956011-118956061	ECC-1	luminal epithelium:	n/a
40	chr10:118956023-118956073	NB4	blood:	n/a
41	chr10:118956023-118956073	HepG2	liver:	n/a
42	chr10:118956023-118956073	IMR90	lung:	fetal
43	chr10:118956023-118956073	AoSMC	blood vessel:	n/a
44	chr10:118956011-118956061	Hepatocyte	liver:	n/a
45	chr10:118956023-118956073	GM12892	blood:	n/a
46	chr10:118956011-118956061	HMEC	breast:	n/a
47	chr10:118956011-118956061	IMR90	lung:	fetal
48	chr10:118956011-118956061	SAEC	small airway:	n/a
49	chr10:118956011-118956061	LNCaP	prostate:	n/a
50	chr10:118956011-118956061	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118518818..118521609-chr10:118952881..118954413,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAX1-2	chr10:118955679-118956165	NONHSAT016509

No data

Variant related genes	Relation type
ENSG00000236171	TF binding region
KCNK18	TF binding region
ENSG00000236171	CpG island
KCNK18	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546071817	chr10:118952392-118952393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12572119	chr10:118952414-118952415	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571702283	chr10:118952420-118952421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142431372	chr10:118952421-118952422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184520814	chr10:118952438-118952439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547226090	chr10:118952482-118952483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574448513	chr10:118952488-118952489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568726130	chr10:118952495-118952496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138340583	chr10:118952509-118952510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs59009835	chr10:118952511-118952512	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376841959	chr10:118952518-118952519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs35264708	chr10:118952525-118952526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150528525	chr10:118954425-118954426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540328651	chr10:118954426-118954427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560357401	chr10:118954444-118954445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368936517	chr10:118954446-118954447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529500269	chr10:118954447-118954448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549263799	chr10:118954454-118954455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181942976	chr10:118954462-118954463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531877120	chr10:118954465-118954466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186141761	chr10:118954490-118954491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139531314	chr10:118954540-118954541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113935965	chr10:118954543-118954544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529597544	chr10:118954549-118954550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189604420	chr10:118954596-118954597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553093372	chr10:118954605-118954606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182630087	chr10:118954657-118954658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563052630	chr10:118954677-118954678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535639249	chr10:118954683-118954684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555241595	chr10:118954704-118954705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543755817	chr10:118954722-118954723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575532103	chr10:118954727-118954728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3858329	chr10:118954750-118954751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149820098	chr10:118954759-118954760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577607714	chr10:118954781-118954782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201962309	chr10:118954855-118954856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540195760	chr10:118954883-118954884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147940272	chr10:118954895-118954896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140185591	chr10:118954923-118954924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543221792	chr10:118954957-118954958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186938535	chr10:118954967-118954968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190653024	chr10:118954979-118954980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552099070	chr10:118955024-118955025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145610928	chr10:118955045-118955046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113429698	chr10:118955063-118955064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533680221	chr10:118955104-118955105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183650840	chr10:118955105-118955106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111376240	chr10:118955106-118955107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577006924	chr10:118955116-118955117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149131460	chr10:118955169-118955170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118954400-118954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:118954600-118954800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:118954800-118957000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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