Variant report

Variant	esv6478
Chromosome Location	chr11:74024689-74027625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
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	POLR2A	chr11:74026494-74026519	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:74026301-74026378	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74026371-74026421	NHBE	bronchial:	n/a
2	chr11:74026371-74026421	HCT-116	colon:	n/a
3	chr11:74026371-74026421	GM12892	blood:	n/a
4	chr11:74026371-74026421	AG04449	skin:	fetal
5	chr11:74026371-74026421	HL-60	blood:	n/a
6	chr11:74026371-74026421	ProgFib	skin:	n/a
7	chr11:74026371-74026421	T-47D	breast:	n/a
8	chr11:74026371-74026421	SK-N-SH	brain:	n/a
9	chr11:74026371-74026421	LNCaP	prostate:	n/a
10	chr11:74026371-74026421	IMR90	lung:	fetal
11	chr11:74026371-74026421	GM19239	blood:	n/a
12	chr11:74026371-74026421	K562	blood:	n/a
13	chr11:74026371-74026421	SAEC	small airway:	n/a
14	chr11:74026371-74026421	GM12891	blood:	n/a
15	chr11:74026371-74026421	NB4	blood:	n/a
16	chr11:74026371-74026421	HEEpiC	esophagus:	n/a
17	chr11:74026371-74026421	HIPEpiC	eye:	n/a
18	chr11:74026371-74026421	SKMC	muscle:	n/a
19	chr11:74026371-74026421	HNPCEpiC	eye:	n/a
20	chr11:74026371-74026421	NH-A	brain:	n/a
21	chr11:74026371-74026421	RPTEC	kidney:	n/a
22	chr11:74026371-74026421	H1-hESC	embryonic stem cell:	embryo
23	chr11:74026371-74026421	HRPEpiC	eye:	n/a
24	chr11:74026371-74026421	HepG2	liver:	n/a
25	chr11:74026371-74026421	ovcar-3	ovarian:	n/a
26	chr11:74026371-74026421	U87	brain:	n/a
27	chr11:74026371-74026421	CMK	blood:	n/a
28	chr11:74026371-74026421	HMEC	breast:	n/a
29	chr11:74026371-74026421	MCF-7	breast:	n/a
30	chr11:74026371-74026421	Hela-S3	cervix:	n/a
31	chr11:74026371-74026421	SK-N-SH_RA	brain:	n/a
32	chr11:74026371-74026421	A549	lung:	n/a
33	chr11:74026371-74026421	NHDF-neo	bronchial:	n/a
34	chr11:74026371-74026421	HEK293	kidney:	embryo
35	chr11:74026371-74026421	SK-N-MC	brain:	n/a
36	chr11:74026371-74026421	ECC-1	luminal epithelium:	n/a
37	chr11:74026371-74026421	AoSMC	blood vessel:	n/a
38	chr11:74026371-74026421	BJ	skin:	n/a
39	chr11:74026371-74026421	MCF10A-Er-Src	breast:	n/a
40	chr11:74026371-74026421	HUVEC	blood vessel:	n/a
41	chr11:74026371-74026421	Caco-2	colon:	n/a
42	chr11:74026371-74026421	HRCEpiC	kidney:	n/a
43	chr11:74026371-74026421	AG09309	skin:	n/a
44	chr11:74026371-74026421	PANC-1	pancreas:	n/a
45	chr11:74026371-74026421	GM12878	blood:	n/a
46	chr11:74026371-74026421	HCF	heart:	n/a
47	chr11:74026371-74026421	PFSK-1	brain:	n/a
48	chr11:74026371-74026421	NT2-D1	testis:	n/a
49	chr11:74026371-74026421	AG09319	gingival:	n/a
50	chr11:74026371-74026421	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
P4HA3	TF binding region
P4HA3	CpG island

Extended variants
information (count: 85 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139768812	chr11:74024697-74024698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185259075	chr11:74024709-74024710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550450297	chr11:74024717-74024718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567269331	chr11:74024725-74024726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536017045	chr11:74024732-74024733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552925589	chr11:74024744-74024745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149366597	chr11:74024745-74024746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144681138	chr11:74024759-74024760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1941817	chr11:74024820-74024821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs190806910	chr11:74024847-74024848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575669709	chr11:74024854-74024855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544658939	chr11:74024896-74024897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555298255	chr11:74025015-74025016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs523261	chr11:74025055-74025056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75163929	chr11:74025077-74025078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73550780	chr11:74025149-74025150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557584403	chr11:74025154-74025155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113869170	chr11:74025157-74025158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143501116	chr11:74025331-74025332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4944886	chr11:74025343-74025344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs146749341	chr11:74025372-74025373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12794902	chr11:74025411-74025412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12794181	chr11:74025415-74025416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139353845	chr11:74025428-74025429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12800283	chr11:74025455-74025456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12794930	chr11:74025466-74025467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12800292	chr11:74025469-74025470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74525217	chr11:74025621-74025622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183402777	chr11:74025659-74025660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567507333	chr11:74025812-74025813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546893771	chr11:74025868-74025869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111914260	chr11:74025883-74025884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2509527	chr11:74025888-74025889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115575724	chr11:74025899-74025900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569421219	chr11:74025961-74025962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571562060	chr11:74025975-74025976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185727711	chr11:74025988-74025989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555040367	chr11:74026055-74026056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190582657	chr11:74026088-74026089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77089969	chr11:74026107-74026108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554456166	chr11:74026135-74026136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577355367	chr11:74026251-74026252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554104829	chr11:74026257-74026258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564612798	chr11:74026310-74026311	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs559198769	chr11:74026316-74026317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572372700	chr11:74026331-74026332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs536729541	chr11:74026383-74026384	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs575029828	chr11:74026426-74026427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543917688	chr11:74026432-74026433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150973049	chr11:74026476-74026477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74023000-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:74023200-74027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:74023200-74036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:74023400-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:74023600-74027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:74027400-74027600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74027600-74027800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
8	chr11:74027600-74028200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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