Variant report

Variant	esv1045407
Chromosome Location	chr6:109611745-109611751
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:1)
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	chr6:109611718-109611768	HRCEpiC	kidney:	n/a
2	chr6:109611718-109611768	GM12892	blood:	n/a
3	chr6:109611718-109611768	SAEC	small airway:	n/a
4	chr6:109611718-109611768	GM06990	blood:	n/a
5	chr6:109611718-109611768	HUVEC	blood vessel:	n/a
6	chr6:109611718-109611768	NH-A	brain:	n/a
7	chr6:109611718-109611768	ovcar-3	ovarian:	n/a
8	chr6:109611718-109611768	NT2-D1	testis:	n/a
9	chr6:109611718-109611768	SK-N-SH	brain:	n/a
10	chr6:109611718-109611768	GM12891	blood:	n/a
11	chr6:109611718-109611768	HIPEpiC	eye:	n/a
12	chr6:109611718-109611768	NHBE	bronchial:	n/a
13	chr6:109611718-109611768	AG09319	gingival:	n/a
14	chr6:109611718-109611768	SK-N-MC	brain:	n/a
15	chr6:109611718-109611768	HMEC	breast:	n/a
16	chr6:109611718-109611768	RPTEC	kidney:	n/a
17	chr6:109611718-109611768	AG09309	skin:	n/a
18	chr6:109611718-109611768	NHDF-neo	bronchial:	n/a
19	chr6:109611718-109611768	PFSK-1	brain:	n/a
20	chr6:109611718-109611768	AG04449	skin:	fetal
21	chr6:109611718-109611768	HepG2	liver:	n/a
22	chr6:109611718-109611768	HNPCEpiC	eye:	n/a
23	chr6:109611718-109611768	HRE	kidney:	n/a
24	chr6:109611718-109611768	AG04450	lung:	fetal
25	chr6:109611718-109611768	HL-60	blood:	n/a
26	chr6:109611718-109611768	K562	blood:	n/a
27	chr6:109611718-109611768	Hela-S3	cervix:	n/a
28	chr6:109611718-109611768	BJ	skin:	n/a
29	chr6:109611718-109611768	GM19239	blood:	n/a
30	chr6:109611718-109611768	PANC-1	pancreas:	n/a
31	chr6:109611718-109611768	HCM	heart:	n/a
32	chr6:109611718-109611768	ProgFib	skin:	n/a
33	chr6:109611718-109611768	AG10803	skin:	n/a
34	chr6:109611718-109611768	HCPEpiC	choroid plexus:	n/a
35	chr6:109611718-109611768	BE2_C	brain:	n/a
36	chr6:109611718-109611768	HCT-116	colon:	n/a
37	chr6:109611718-109611768	HCF	heart:	n/a
38	chr6:109611718-109611768	Hepatocyte	liver:	n/a
39	chr6:109611718-109611768	NB4	blood:	n/a
40	chr6:109611718-109611768	U87	brain:	n/a
41	chr6:109611718-109611768	HEEpiC	esophagus:	n/a
42	chr6:109611718-109611768	MCF10A-Er-Src	breast:	n/a
43	chr6:109611718-109611768	HEK293	kidney:	embryo
44	chr6:109611718-109611768	ECC-1	luminal epithelium:	n/a
45	chr6:109611718-109611768	HRPEpiC	eye:	n/a
46	chr6:109611718-109611768	SKMC	muscle:	n/a
47	chr6:109611718-109611768	Caco-2	colon:	n/a
48	chr6:109611718-109611768	T-47D	breast:	n/a
49	chr6:109611718-109611768	IMR90	lung:	fetal
50	chr6:109611718-109611768	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:109610868..109612861-chr6:109702210..109704800,2	K562	blood:

No data

Variant related genes	Relation type
PTCHD3P3	CpG island
CCDC162P	CpG island
ENSG00000260273	chromatin interactions
ENSG00000135535	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 114 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9487044	chr6:109611750-109611751	Weak transcription Enhancers	CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109587600-109614600	Weak transcription	HepG2	liver
2	chr6:109591600-109615200	Weak transcription	Placenta	Placenta
3	chr6:109606200-109614400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:109608200-109612800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:109608200-109613200	Weak transcription	Brain Substantia Nigra	brain
6	chr6:109608400-109613200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:109608400-109613400	Weak transcription	Fetal Intestine Small	intestine
8	chr6:109609800-109613200	Weak transcription	K562	blood
9	chr6:109610200-109612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:109611000-109613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:109611200-109612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:109611200-109615200	Weak transcription	Esophagus	oesophagus
13	chr6:109611200-109618200	Weak transcription	Gastric	stomach
14	chr6:109611600-109611800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:109611600-109613000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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