Variant report

Variant	esv3326145
Chromosome Location	chr13:53034387-53035323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53034739..53038447-chr13:53039311..53042950,6	K562	blood:
2	chr13:53035263..53041747-chr13:53043421..53048270,6	K562	blood:
3	chr13:53033923..53036375-chr13:53036479..53039026,2	K562	blood:
4	chr13:53028078..53032210-chr13:53033257..53037371,7	MCF-7	breast:
5	chr13:53034318..53035830-chr13:53040795..53043273,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136108	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369012097	chr13:53034409-53034410	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572624750	chr13:53034540-53034541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544357787	chr13:53034548-53034549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182408450	chr13:53034587-53034588	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112574566	chr13:53034611-53034612	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578161173	chr13:53034624-53034625	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111607619	chr13:53034628-53034629	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71437861	chr13:53034641-53034642	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs71218541	chr13:53034648-53034649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9526920	chr13:53034661-53034662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12867131	chr13:53034666-53034667	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12867138	chr13:53034673-53034674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71437862	chr13:53034680-53034681	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71196006	chr13:53034682-53034683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12868028	chr13:53034692-53034693	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71437863	chr13:53034699-53034700	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9526921	chr13:53034704-53034705	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12868118	chr13:53034705-53034706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529285410	chr13:53034733-53034734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58160036	chr13:53034736-53034737	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58489920	chr13:53034744-53034745	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60103307	chr13:53034748-53034749	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12866903	chr13:53034772-53034773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10454628	chr13:53034778-53034779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78511116	chr13:53034788-53034789	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76112935	chr13:53034789-53034790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79220975	chr13:53034791-53034792	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78973154	chr13:53034794-53034795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75866225	chr13:53034796-53034797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10454629	chr13:53034801-53034802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10454630	chr13:53034811-53034812	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
32	rs185713924	chr13:53034812-53034813	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10454631	chr13:53034814-53034815	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9563103	chr13:53034822-53034823	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79998741	chr13:53034829-53034830	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75729833	chr13:53034830-53034831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76346509	chr13:53034833-53034834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373650582	chr13:53034834-53034835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79889865	chr13:53034838-53034839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9526922	chr13:53034867-53034868	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563157042	chr13:53034876-53034877	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9526923	chr13:53034882-53034883	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370036997	chr13:53034892-53034893	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531826896	chr13:53034912-53034913	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188972309	chr13:53034952-53034953	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572370656	chr13:53034955-53034956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113062030	chr13:53035131-53035132	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376601366	chr13:53035169-53035170	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566498056	chr13:53035189-53035190	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369526042	chr13:53035190-53035191	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53030200-53050800	Weak transcription	Gastric	stomach
2	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
3	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
4	chr13:53030400-53035200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:53030400-53035400	Weak transcription	Left Ventricle	heart
6	chr13:53030400-53035600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:53030400-53037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:53030400-53039200	Weak transcription	Psoas Muscle	Psoas
9	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
10	chr13:53030400-53048400	Weak transcription	Ovary	ovary
11	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
12	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
13	chr13:53030400-53055800	Weak transcription	Lung	lung
14	chr13:53030600-53035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:53030600-53035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:53030600-53035400	Weak transcription	Placenta	Placenta
17	chr13:53030600-53037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:53030600-53040800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
21	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
22	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
27	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:53030800-53035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:53030800-53035000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:53030800-53035000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:53030800-53035200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:53030800-53035200	Weak transcription	Fetal Kidney	kidney
34	chr13:53030800-53035600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:53030800-53036000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr13:53030800-53037000	Weak transcription	Brain Angular Gyrus	brain
37	chr13:53030800-53041200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:53030800-53042600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:53031000-53035000	Weak transcription	Liver	Liver
40	chr13:53031000-53035200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:53031000-53035200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:53031000-53035200	Weak transcription	Brain Anterior Caudate	brain
43	chr13:53031000-53035400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr13:53031000-53041000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr13:53031000-53042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:53031000-53043000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:53031000-53049200	Weak transcription	Fetal Brain Female	brain
48	chr13:53031000-53050800	Weak transcription	Stomach Mucosa	stomach
49	chr13:53031000-53051200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:53031000-53051400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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