Variant report

Variant	esv3529090
Chromosome Location	chr10:780702-784950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
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	EP300	chr10:780354-780880	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr10:779968-780893	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr10:780123-780869	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr10:780209-780799	SK-N-SH	brain:	n/a	n/a
5	SETDB1	chr10:780607-781045	U2OS	brain:	n/a	n/a
6	TCF12	chr10:780126-780789	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr10:780132-780835	SK-N-SH	brain:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:782282-782332	Hepatocyte	liver:	n/a
2	chr10:782282-782332	Hepatocyte	liver:	n/a
3	chr10:783591-783641	HAEpiC	amniotic membrane:	n/a
4	chr10:782282-782332	H1-hESC	embryonic stem cell:	embryo
5	chr10:783591-783641	HRE	kidney:	n/a
6	chr10:783591-783641	ovcar-3	ovarian:	n/a
7	chr10:783312-783362	HEK293	kidney:	embryo
8	chr10:783591-783641	IMR90	lung:	fetal
9	chr10:783312-783362	RPTEC	kidney:	n/a
10	chr10:782282-782332	GM12891	blood:	n/a
11	chr10:783591-783641	Jurkat	blood:	n/a
12	chr10:782282-782332	Hela-S3	cervix:	n/a
13	chr10:783312-783362	K562	blood:	n/a
14	chr10:783591-783641	PFSK-1	brain:	n/a
15	chr10:783591-783641	AG04450	lung:	fetal
16	chr10:783312-783362	HRPEpiC	eye:	n/a
17	chr10:782282-782332	NT2-D1	testis:	n/a
18	chr10:782282-782332	GM12878	blood:	n/a
19	chr10:783591-783641	PrEC	prostate:	n/a
20	chr10:783312-783362	NHBE	bronchial:	n/a
21	chr10:782282-782332	IMR90	lung:	fetal
22	chr10:782282-782332	SAEC	small airway:	n/a
23	chr10:783591-783641	NHDF-neo	bronchial:	n/a
24	chr10:783591-783641	LNCaP	prostate:	n/a
25	chr10:783312-783362	CMK	blood:	n/a
26	chr10:783591-783641	HRPEpiC	eye:	n/a
27	chr10:783312-783362	HepG2	liver:	n/a
28	chr10:783312-783362	PANC-1	pancreas:	n/a
29	chr10:783312-783362	HIPEpiC	eye:	n/a
30	chr10:783312-783362	HNPCEpiC	eye:	n/a
31	chr10:782282-782332	RPTEC	kidney:	n/a
32	chr10:783591-783641	ProgFib	skin:	n/a
33	chr10:783312-783362	MCF10A-Er-Src	breast:	n/a
34	chr10:783591-783641	AG04449	skin:	fetal
35	chr10:783312-783362	MCF-7	breast:	n/a
36	chr10:783312-783362	HRCEpiC	kidney:	n/a
37	chr10:783591-783641	HMEC	breast:	n/a
38	chr10:783591-783641	MCF10A-Er-Src	breast:	n/a
39	chr10:783591-783641	Hepatocyte	liver:	n/a
40	chr10:783312-783362	HCM	heart:	n/a
41	chr10:782282-782332	A549	lung:	n/a
42	chr10:782282-782332	NHBE	bronchial:	n/a
43	chr10:782282-782332	PrEC	prostate:	n/a
44	chr10:782282-782332	SK-N-SH_RA	brain:	n/a
45	chr10:782282-782332	AoSMC	blood vessel:	n/a
46	chr10:783591-783641	HNPCEpiC	eye:	n/a
47	chr10:782282-782332	HCPEpiC	choroid plexus:	n/a
48	chr10:783312-783362	SAEC	small airway:	n/a
49	chr10:783591-783641	AoSMC	blood vessel:	n/a
50	chr10:783312-783362	ovcar-3	ovarian:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C10orf108-6	chr10:780517-780898	NONHSAT010872

No data

Variant related genes	Relation type
ENSG00000231601	TF binding region
ENSG00000231601	CpG island
ENSG00000231601	chromatin interactions

Extended variants
information (count: 327 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs147624066	chr10:780702-780703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562586562	chr10:780707-780708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs111463213	chr10:780708-780709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs191074181	chr10:780787-780788	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs35063135	chr10:780810-780811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs541813177	chr10:780832-780833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142247808	chr10:780849-780850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs527942305	chr10:780881-780882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs115005778	chr10:780882-780883	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs571000840	chr10:780890-780891	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs372525172	chr10:780894-780895	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182368345	chr10:780915-780916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550036333	chr10:780920-780921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568099939	chr10:780965-780966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2265093	chr10:780988-780989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4881515	chr10:781002-781003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568015066	chr10:781023-781024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189250404	chr10:781056-781057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34142888	chr10:781083-781084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374694671	chr10:781084-781085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114747709	chr10:781091-781092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576997612	chr10:781118-781119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2246654	chr10:781124-781125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556310346	chr10:781159-781160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556389662	chr10:781172-781173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77861402	chr10:781188-781189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76948303	chr10:781189-781190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576166674	chr10:781214-781215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368367814	chr10:781234-781235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201529984	chr10:781239-781240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76793293	chr10:781248-781249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60813052	chr10:781251-781252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541849982	chr10:781258-781259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561715400	chr10:781263-781264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114176735	chr10:781288-781289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146198890	chr10:781302-781303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564781578	chr10:781334-781335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56234340	chr10:781339-781340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201666200	chr10:781342-781343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113786864	chr10:781346-781347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550312767	chr10:781350-781351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139578192	chr10:781366-781367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56154362	chr10:781369-781370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56018853	chr10:781381-781382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367577364	chr10:781389-781390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545304608	chr10:781392-781393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61831405	chr10:781393-781394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61831406	chr10:781398-781399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146358786	chr10:781405-781406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71482845	chr10:781413-781414	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:3 , 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

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