Variant report

Variant	esv1806455
Chromosome Location	chr10:781247-785244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:782282-782332	PFSK-1	brain:	n/a
2	chr10:783591-783641	HCT-116	colon:	n/a
3	chr10:783591-783641	K562	blood:	n/a
4	chr10:783591-783641	SK-N-SH_RA	brain:	n/a
5	chr10:783591-783641	CMK	blood:	n/a
6	chr10:783312-783362	ECC-1	luminal epithelium:	n/a
7	chr10:782282-782332	U87	brain:	n/a
8	chr10:782282-782332	HIPEpiC	eye:	n/a
9	chr10:783591-783641	HepG2	liver:	n/a
10	chr10:783312-783362	U87	brain:	n/a
11	chr10:782282-782332	AG04449	skin:	fetal
12	chr10:783591-783641	PrEC	prostate:	n/a
13	chr10:783312-783362	HRE	kidney:	n/a
14	chr10:783312-783362	GM12892	blood:	n/a
15	chr10:782282-782332	BJ	skin:	n/a
16	chr10:783591-783641	HNPCEpiC	eye:	n/a
17	chr10:783591-783641	GM12878	blood:	n/a
18	chr10:783591-783641	A549	lung:	n/a
19	chr10:783591-783641	AG09309	skin:	n/a
20	chr10:782282-782332	SK-N-MC	brain:	n/a
21	chr10:782282-782332	SKMC	muscle:	n/a
22	chr10:783312-783362	HCF	heart:	n/a
23	chr10:783312-783362	HL-60	blood:	n/a
24	chr10:782282-782332	HEEpiC	esophagus:	n/a
25	chr10:782282-782332	NHDF-neo	bronchial:	n/a
26	chr10:783312-783362	AoSMC	blood vessel:	n/a
27	chr10:783312-783362	GM12878	blood:	n/a
28	chr10:783591-783641	BE2_C	brain:	n/a
29	chr10:783312-783362	Hela-S3	cervix:	n/a
30	chr10:782282-782332	SK-N-SH_RA	brain:	n/a
31	chr10:783591-783641	HUVEC	blood vessel:	n/a
32	chr10:783312-783362	PrEC	prostate:	n/a
33	chr10:783312-783362	AG09309	skin:	n/a
34	chr10:782282-782332	HL-60	blood:	n/a
35	chr10:782282-782332	HCM	heart:	n/a
36	chr10:783312-783362	HMEC	breast:	n/a
37	chr10:782282-782332	RPTEC	kidney:	n/a
38	chr10:783312-783362	SK-N-MC	brain:	n/a
39	chr10:782282-782332	GM12892	blood:	n/a
40	chr10:783591-783641	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:783312-783362	HCM	heart:	n/a
42	chr10:782282-782332	HAEpiC	amniotic membrane:	n/a
43	chr10:783312-783362	ProgFib	skin:	n/a
44	chr10:782282-782332	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:783312-783362	T-47D	breast:	n/a
46	chr10:782282-782332	SK-N-SH	brain:	n/a
47	chr10:782282-782332	HEK293	kidney:	embryo
48	chr10:783312-783362	Caco-2	colon:	n/a
49	chr10:783591-783641	MCF10A-Er-Src	breast:	n/a
50	chr10:782282-782332	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:783561..786479-chr10:789093..790752,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231601	CpG island
ENSG00000231601	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76793293	chr10:781248-781249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60813052	chr10:781251-781252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541849982	chr10:781258-781259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561715400	chr10:781263-781264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114176735	chr10:781288-781289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146198890	chr10:781302-781303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564781578	chr10:781334-781335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56234340	chr10:781339-781340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201666200	chr10:781342-781343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113786864	chr10:781346-781347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550312767	chr10:781350-781351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139578192	chr10:781366-781367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56154362	chr10:781369-781370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56018853	chr10:781381-781382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367577364	chr10:781389-781390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545304608	chr10:781392-781393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61831405	chr10:781393-781394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61831406	chr10:781398-781399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146358786	chr10:781405-781406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71482845	chr10:781413-781414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565140717	chr10:781416-781417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187296013	chr10:781417-781418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11599554	chr10:781422-781423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56079144	chr10:781428-781429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529299134	chr10:781433-781434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530637747	chr10:781437-781438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550702505	chr10:781440-781441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71491305	chr10:781446-781447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561819571	chr10:781459-781460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11253387	chr10:781464-781465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71494936	chr10:781469-781470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200045902	chr10:781484-781485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567258411	chr10:781508-781509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71297924	chr10:781510-781511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184021451	chr10:781512-781513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79926203	chr10:781517-781518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77415312	chr10:781518-781519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78138285	chr10:781533-781534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184301563	chr10:781535-781536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79369365	chr10:781540-781541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190765831	chr10:781558-781559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75484439	chr10:781563-781564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371223241	chr10:781578-781579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374387781	chr10:781580-781581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78303382	chr10:781581-781582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369693730	chr10:781586-781587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368027413	chr10:781588-781589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374383218	chr10:781609-781610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377764751	chr10:781631-781632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55927402	chr10:781633-781634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:779400-785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:779600-785200	Weak transcription	Gastric	stomach
3	chr10:784000-790600	Weak transcription	Spleen	Spleen
4	chr10:785200-785600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:785200-785600	ZNF genes & repeats	Gastric	stomach
6	chr10:785200-785800	ZNF genes & repeats	Fetal Kidney	kidney

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