Variant report

Variant	esv1843972
Chromosome Location	chr13:64139074-64217694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-8	chr13:64196102-64196320	XLOC_010642
2	lnc-AL445989.1-2	chr13:64207475-64207529	XLOC_010411
3	lnc-AL445989.1-2	chr13:64207475-64207529	XLOC_010411
4	lnc-AL445989.1-2	chr13:64208379-64208464	XLOC_010411
5	lnc-PCDH20-7	chr13:64159888-64159977	XLOC_010641
6	lnc-PCDH20-8	chr13:64204770-64204813	XLOC_010642
7	lnc-AL445989.1-2	chr13:64201008-64201079	XLOC_010411
8	lnc-AL445989.1-2	chr13:64201008-64201079	XLOC_010411
9	lnc-AL445989.1-2	chr13:64208383-64208464	XLOC_010411
10	lnc-PCDH20-7	chr13:64159590-64159812	XLOC_010641
11	lnc-AL445989.1-2	chr13:64209594-64209643	XLOC_010411
12	lnc-AL445989.1-2	chr13:64209594-64209643	XLOC_010411

No data

Variant related genes	Relation type
FUNDC2	miRNA target sites
ZNF71	miRNA target sites
PHTF2	miRNA target sites

Extended variants
information (count: 660 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7336906	chr13:64140074-64140075	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373707407	chr13:64140075-64140076	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs574393023	chr13:64140098-64140099	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539477382	chr13:64140119-64140120	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183169329	chr13:64140123-64140124	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377643152	chr13:64140152-64140153	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75353115	chr13:64140153-64140154	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115549894	chr13:64140196-64140197	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542604749	chr13:64140215-64140216	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543104800	chr13:64140241-64140242	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556727771	chr13:64140243-64140244	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35470602	chr13:64140267-64140268	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559648234	chr13:64140268-64140269	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373504990	chr13:64140332-64140333	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112163998	chr13:64140355-64140356	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542016562	chr13:64140368-64140369	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560441340	chr13:64140374-64140375	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs527944694	chr13:64140378-64140379	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546200151	chr13:64140393-64140394	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564275792	chr13:64140435-64140436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528735904	chr13:64140448-64140449	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531841893	chr13:64140463-64140464	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528313276	chr13:64140484-64140485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs61147075	chr13:64140486-64140487	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141992146	chr13:64140493-64140494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112469705	chr13:64140497-64140498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547600942	chr13:64140531-64140532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565998413	chr13:64140533-64140534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539328222	chr13:64140545-64140546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377398269	chr13:64140567-64140568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557739612	chr13:64140570-64140571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546921200	chr13:64140584-64140585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187371835	chr13:64140590-64140591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377002775	chr13:64140616-64140617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs56701536	chr13:64140617-64140618	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573380198	chr13:64140618-64140619	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79495791	chr13:64140632-64140633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs551528084	chr13:64140676-64140677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs74086998	chr13:64140690-64140691	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150822700	chr13:64140696-64140697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377546043	chr13:64140706-64140707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531653878	chr13:64140712-64140713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543776299	chr13:64140714-64140715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76184055	chr13:64140736-64140737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193110028	chr13:64140737-64140738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185562024	chr13:64140738-64140739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375808304	chr13:64140813-64140814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7983456	chr13:64140827-64140828	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374089127	chr13:64140828-64140829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74086999	chr13:64140848-64140849	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64140000-64140400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:64140000-64141600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:64140200-64141200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:64140400-64145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:64154200-64154400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:64159600-64160000	Active TSS	Hela-S3	cervix
7	chr13:64159600-64160200	Active TSS	A549	lung
8	chr13:64161200-64161600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:64168600-64169000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:64168600-64169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:64168800-64169800	Enhancers	Fetal Heart	heart
12	chr13:64170000-64170400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:64170000-64170600	Enhancers	HMEC	breast
14	chr13:64170200-64170600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:64172800-64174000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:64173000-64173400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:64173000-64173400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:64173000-64173600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:64179800-64180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:64188800-64190200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:64209800-64210000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:64209800-64210200	Active TSS	Aorta	Aorta
23	chr13:64210000-64211000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr13:64210200-64210400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:64210200-64210400	Enhancers	Dnd41	blood
26	chr13:64210200-64211200	Active TSS	GM12878-XiMat	blood
27	chr13:64210400-64210600	Enhancers	Liver	Liver
28	chr13:64210400-64210800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:64210400-64210800	Active TSS	Fetal Kidney	kidney
30	chr13:64210400-64211000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:64210400-64211000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:64210400-64211000	Active TSS	Duodenum Mucosa	Duodenum
33	chr13:64210400-64211000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:64210400-64211000	Active TSS	A549	lung
35	chr13:64210400-64211000	Active TSS	Osteobl	bone
36	chr13:64210400-64211200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:64210400-64211200	Active TSS	Stomach Smooth Muscle	stomach
38	chr13:64210400-64211400	Flanking Active TSS	Dnd41	blood
39	chr13:64210600-64210800	Flanking Active TSS	Liver	Liver
40	chr13:64210600-64211000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:64210600-64211000	Active TSS	Primary hematopoietic stem cells	blood
42	chr13:64210600-64211000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr13:64210600-64211000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:64210600-64211000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:64210600-64211000	Active TSS	Adipose Nuclei	Adipose
46	chr13:64210600-64211000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr13:64210600-64211000	Active TSS	Stomach Mucosa	stomach
48	chr13:64210600-64211000	Active TSS	Hela-S3	cervix
49	chr13:64210600-64211000	Active TSS	HMEC	breast
50	chr13:64210600-64211000	Active TSS	HUVEC	blood vessel

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