Variant report

Variant	esv1816739
Chromosome Location	chr13:52348365-52350402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:52348428-52348518	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52025577..52029967-chr13:52343918..52348772,7	MCF-7	breast:

Variant related genes	Relation type
DHRS12	TF binding region
ENSG00000224892	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000102786	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199775290	chr13:52348370-52348371	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs67686329	chr13:52348391-52348392	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200829485	chr13:52348392-52348393	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs66468459	chr13:52348405-52348406	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574292595	chr13:52348417-52348418	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs67720341	chr13:52348418-52348419	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545445300	chr13:52348429-52348430	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs67222159	chr13:52348431-52348432	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs201653288	chr13:52348437-52348438	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542924867	chr13:52348444-52348445	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs66941430	chr13:52348445-52348446	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372408082	chr13:52348464-52348465	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs200026779	chr13:52348471-52348472	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs71192016	chr13:52348485-52348486	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs72423663	chr13:52348491-52348492	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs199914590	chr13:52348507-52348508	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs200832877	chr13:52348517-52348518	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs10670890	chr13:52348541-52348542	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs71678813	chr13:52348542-52348543	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs559418294	chr13:52348545-52348546	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs563965371	chr13:52348559-52348560	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs56172200	chr13:52348578-52348579	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200339775	chr13:52348579-52348580	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs568625310	chr13:52348587-52348588	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551148175	chr13:52348605-52348606	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs555749340	chr13:52348611-52348612	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs5803575	chr13:52348618-52348619	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539916748	chr13:52348624-52348625	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs542229312	chr13:52348632-52348633	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201967376	chr13:52348638-52348639	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs551336900	chr13:52348645-52348646	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs200389204	chr13:52348673-52348674	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201478386	chr13:52348681-52348682	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs547056261	chr13:52348710-52348711	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs555431464	chr13:52348723-52348724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528151414	chr13:52348728-52348729	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs202134265	chr13:52348755-52348756	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs537743084	chr13:52348816-52348817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540016649	chr13:52348834-52348835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75985403	chr13:52348842-52348843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542715799	chr13:52348848-52348849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531382224	chr13:52348858-52348859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200161662	chr13:52348862-52348863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201291660	chr13:52348893-52348894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533685069	chr13:52348907-52348908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199671375	chr13:52348913-52348914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529332427	chr13:52348920-52348921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200788970	chr13:52348926-52348927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568886718	chr13:52348933-52348934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201760108	chr13:52349057-52349058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	21990379	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:52339400-52349600	Weak transcription	Placenta	Placenta
3	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
6	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:52340800-52352200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:52341400-52354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:52341600-52352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:52341600-52356400	Weak transcription	Brain Germinal Matrix	brain
17	chr13:52342600-52356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:52342800-52355800	Weak transcription	Primary B cells from cord blood	blood
19	chr13:52343000-52351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:52343200-52350000	Weak transcription	Fetal Lung	lung
21	chr13:52343200-52350400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:52343400-52350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:52343400-52352000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:52343800-52349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr13:52343800-52360200	Weak transcription	Small Intestine	intestine
26	chr13:52344200-52351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:52344200-52352000	Weak transcription	HSMMtube	muscle
28	chr13:52344200-52352600	Weak transcription	Esophagus	oesophagus
29	chr13:52344200-52357800	Weak transcription	HSMM	muscle
30	chr13:52344400-52348400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr13:52344600-52355400	Weak transcription	Spleen	Spleen
32	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:52344800-52355600	Weak transcription	Right Ventricle	heart
34	chr13:52344800-52359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr13:52344800-52360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:52344800-52360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:52345000-52351200	Weak transcription	Adipose Nuclei	Adipose
38	chr13:52345200-52352200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:52345400-52355600	Weak transcription	HepG2	liver
40	chr13:52345400-52363400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:52345600-52352400	Weak transcription	Brain Substantia Nigra	brain
42	chr13:52345600-52359600	Weak transcription	Lung	lung
43	chr13:52345800-52355600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:52346200-52350400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:52346200-52352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:52346200-52355400	Weak transcription	Left Ventricle	heart
47	chr13:52346200-52355600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:52346200-52357800	Weak transcription	Primary T cells from cord blood	blood
49	chr13:52346400-52355800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr13:52346400-52356200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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