Variant report

Variant	esv3346147
Chromosome Location	chr5:93906020-93906374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:93906294-93906344	K562	blood:	n/a
2	chr5:93906294-93906344	AG09309	skin:	n/a
3	chr5:93906294-93906344	CMK	blood:	n/a
4	chr5:93906294-93906344	HCM	heart:	n/a
5	chr5:93906294-93906344	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:93906294-93906344	MCF10A-Er-Src	breast:	n/a
7	chr5:93906294-93906344	SAEC	small airway:	n/a
8	chr5:93906294-93906344	HRPEpiC	eye:	n/a
9	chr5:93906294-93906344	A549	lung:	n/a
10	chr5:93906294-93906344	HNPCEpiC	eye:	n/a
11	chr5:93906294-93906344	BE2_C	brain:	n/a
12	chr5:93906294-93906344	AG04449	skin:	fetal
13	chr5:93906294-93906344	HCF	heart:	n/a
14	chr5:93906294-93906344	HCT-116	colon:	n/a
15	chr5:93906294-93906344	HL-60	blood:	n/a
16	chr5:93906294-93906344	HAEpiC	amniotic membrane:	n/a
17	chr5:93906294-93906344	ProgFib	skin:	n/a
18	chr5:93906294-93906344	IMR90	lung:	fetal
19	chr5:93906294-93906344	LNCaP	prostate:	n/a
20	chr5:93906294-93906344	HIPEpiC	eye:	n/a
21	chr5:93906294-93906344	HEK293	kidney:	embryo
22	chr5:93906294-93906344	Jurkat	blood:	n/a
23	chr5:93906294-93906344	H1-hESC	embryonic stem cell:	embryo
24	chr5:93906294-93906344	HMEC	breast:	n/a
25	chr5:93906294-93906344	BJ	skin:	n/a
26	chr5:93906294-93906344	PFSK-1	brain:	n/a
27	chr5:93906294-93906344	U87	brain:	n/a
28	chr5:93906294-93906344	NT2-D1	testis:	n/a
29	chr5:93906294-93906344	SK-N-MC	brain:	n/a
30	chr5:93906294-93906344	HUVEC	blood vessel:	n/a
31	chr5:93906294-93906344	HepG2	liver:	n/a
32	chr5:93906294-93906344	AoSMC	blood vessel:	n/a
33	chr5:93906294-93906344	AG10803	skin:	n/a
34	chr5:93906294-93906344	Hela-S3	cervix:	n/a
35	chr5:93906294-93906344	NHBE	bronchial:	n/a
36	chr5:93906294-93906344	AG09319	gingival:	n/a
37	chr5:93906294-93906344	Caco-2	colon:	n/a
38	chr5:93906294-93906344	HCPEpiC	choroid plexus:	n/a
39	chr5:93906294-93906344	GM06990	blood:	n/a
40	chr5:93906294-93906344	PrEC	prostate:	n/a
41	chr5:93906294-93906344	MCF-7	breast:	n/a
42	chr5:93906294-93906344	ovcar-3	ovarian:	n/a
43	chr5:93906294-93906344	SK-N-SH	brain:	n/a
44	chr5:93906294-93906344	HRE	kidney:	n/a
45	chr5:93906294-93906344	HEEpiC	esophagus:	n/a
46	chr5:93906294-93906344	SK-N-SH_RA	brain:	n/a
47	chr5:93906294-93906344	GM12892	blood:	n/a
48	chr5:93906294-93906344	GM19239	blood:	n/a
49	chr5:93906294-93906344	GM12891	blood:	n/a
50	chr5:93906294-93906344	T-47D	breast:	n/a

No data

Variant related genes	Relation type
MTND6P3	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114417414	chr5:93906024-93906025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74597830	chr5:93906039-93906040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79468967	chr5:93906051-93906052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116885296	chr5:93906068-93906069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372428036	chr5:93906072-93906073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576441337	chr5:93906073-93906074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146138822	chr5:93906078-93906079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76028173	chr5:93906079-93906080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75957351	chr5:93906082-93906083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575929879	chr5:93906088-93906089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572880592	chr5:93906089-93906090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78657298	chr5:93906094-93906095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74984246	chr5:93906096-93906097	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113362830	chr5:93906102-93906103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62365668	chr5:93906115-93906116	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs78430545	chr5:93906162-93906163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112547422	chr5:93906168-93906169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77543131	chr5:93906197-93906198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75845392	chr5:93906202-93906203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113405266	chr5:93906257-93906258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75474806	chr5:93906294-93906295	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs530414687	chr5:93906295-93906296	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs550496904	chr5:93906304-93906305	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs563631919	chr5:93906308-93906309	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs144778431	chr5:93906319-93906320	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs76784622	chr5:93906324-93906325	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs74825014	chr5:93906330-93906331	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs185461721	chr5:93906340-93906341	Weak transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs534837629	chr5:93906361-93906362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93903000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:93904200-93908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:93905800-93906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr5:93906000-93913200	Weak transcription	Aorta	Aorta

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