Variant report

Variant	esv3520141
Chromosome Location	chr13:52346551-52351849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

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
2	FOSL2	chr13:52345005-52346606	HepG2	liver:	n/a	n/a
3	FOSL2	chr13:52346857-52347255	HepG2	liver:	n/a	n/a
4	POLR2A	chr13:52346485-52346836	HepG2	liver:	n/a	n/a
5	POLR2A	chr13:52346619-52347260	U87	brain:	n/a	n/a
6	POLR2A	chr13:52345068-52347335	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr13:52350776-52351571	A549	lung:	n/a	n/a
8	POLR2A	chr13:52345294-52348227	A549	lung:	n/a	n/a
9	POLR2A	chr13:52345961-52346967	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr13:52348048-52348089	HepG2	liver:	n/a	n/a
11	POLR2A	chr13:52347727-52347936	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr13:52346794-52347107	HepG2	liver:	n/a	n/a
13	POLR2A	chr13:52347148-52347292	GM12878	blood:	n/a	n/a
14	POLR2A	chr13:52346983-52347190	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr13:52350511-52350702	HepG2	liver:	n/a	n/a
16	POLR2A	chr13:52347680-52348106	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr13:52347657-52347857	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr13:52346802-52347231	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:52346607-52346852	U87	brain:	n/a	n/a
20	POLR2A	chr13:52347644-52347665	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr13:52347866-52348121	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr13:52346149-52346577	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr13:52347569-52347670	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr13:52346843-52346866	HepG2	liver:	n/a	n/a
25	POLR2A	chr13:52346998-52347109	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr13:52347759-52348301	HepG2	liver:	n/a	n/a
27	POLR2A	chr13:52347094-52347145	HepG2	liver:	n/a	n/a
28	POLR2A	chr13:52347972-52348045	HepG2	liver:	n/a	n/a
29	POLR2A	chr13:52350930-52351428	HepG2	liver:	n/a	n/a
30	POLR2A	chr13:52347643-52347833	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr13:52351712-52351918	HepG2	liver:	n/a	n/a
32	POLR2A	chr13:52347673-52347931	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr13:52347071-52347156	A549	lung:	n/a	n/a
34	POLR2A	chr13:52344342-52347535	HepG2	liver:	n/a	n/a
35	ZNF263	chr13:52347705-52348088	HEK293-T-REx	kidney:	n/a	chr13:52347858-52347867

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52013121..52015386-chr13:52344504..52346745,2	MCF-7	breast:
2	chr13:52026095..52028925-chr13:52351602..52354285,2	K562	blood:
3	chr13:52025577..52029967-chr13:52343918..52348772,7	MCF-7	breast:
4	chr13:52025721..52028178-chr13:52344318..52347110,2	K562	blood:
5	chr13:52336715..52338820-chr13:52345525..52347839,2	MCF-7	breast:
6	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP7B-2	chr13:52348057-52348170	NONHSAT033950
2	lnc-ATP7B-2	chr13:52351196-52351257	NONHSAT033950
3	lnc-ATP7B-2	chr13:52351379-52351519	NONHSAT033950

No data

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

Extended variants
information (count: 228 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573373	chr13:52346592-52346593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs145789233	chr13:52346595-52346596	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540786232	chr13:52346597-52346598	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557504089	chr13:52346598-52346599	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577382445	chr13:52346648-52346649	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546449923	chr13:52346657-52346658	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs140675526	chr13:52346675-52346676	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs528827013	chr13:52346676-52346677	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373206928	chr13:52346691-52346692	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144639328	chr13:52346696-52346697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs35352347	chr13:52346820-52346821	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566947566	chr13:52346861-52346862	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529702559	chr13:52346919-52346920	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534682375	chr13:52346983-52346984	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549332652	chr13:52347028-52347029	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374397184	chr13:52347087-52347088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563067240	chr13:52347104-52347105	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs76223806	chr13:52347119-52347120	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551992561	chr13:52347132-52347133	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs565863567	chr13:52347133-52347134	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs146705043	chr13:52347220-52347221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532372809	chr13:52347222-52347223	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs115401820	chr13:52347240-52347241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs552196255	chr13:52347276-52347277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs557668844	chr13:52347301-52347302	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs117965296	chr13:52347351-52347352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs537462145	chr13:52347352-52347353	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs143469495	chr13:52347357-52347358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs9568663	chr13:52347374-52347375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs192789684	chr13:52347384-52347385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs10870858	chr13:52347415-52347416	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs7985214	chr13:52347439-52347440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573391401	chr13:52347457-52347458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs542017999	chr13:52347485-52347486	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562421769	chr13:52347501-52347502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs9596573	chr13:52347553-52347554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543046542	chr13:52347596-52347597	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554975279	chr13:52347598-52347599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs562935186	chr13:52347635-52347636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs568577069	chr13:52347699-52347700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537723188	chr13:52347738-52347739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs184726178	chr13:52347748-52347749	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs577967219	chr13:52347750-52347751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs11148228	chr13:52347756-52347757	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559141644	chr13:52347836-52347837	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs528302292	chr13:52347843-52347844	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs148057306	chr13:52347914-52347915	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560499079	chr13:52347943-52347944	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs537328420	chr13:52347958-52347959	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs117331287	chr13:52347974-52347975	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:52335200-52347000	Weak transcription	Fetal Brain Male	brain
3	chr13:52335200-52348000	Weak transcription	Fetal Brain Female	brain
4	chr13:52339400-52347000	Weak transcription	A549	lung
5	chr13:52339400-52347600	Weak transcription	Aorta	Aorta
6	chr13:52339400-52347600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:52339400-52347800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:52339400-52349600	Weak transcription	Placenta	Placenta
9	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
12	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:52340400-52348200	Strong transcription	Fetal Stomach	stomach
19	chr13:52340800-52352200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr13:52341200-52347800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:52341400-52354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr13:52341600-52352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:52341600-52356400	Weak transcription	Brain Germinal Matrix	brain
25	chr13:52341800-52346800	Weak transcription	Osteobl	bone
26	chr13:52342400-52347800	Enhancers	Right Atrium	heart
27	chr13:52342400-52348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:52342600-52356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:52342800-52355800	Weak transcription	Primary B cells from cord blood	blood
30	chr13:52343000-52351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:52343200-52350000	Weak transcription	Fetal Lung	lung
32	chr13:52343200-52350400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:52343400-52350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:52343400-52352000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:52343800-52349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr13:52343800-52360200	Weak transcription	Small Intestine	intestine
37	chr13:52344200-52348200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:52344200-52351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:52344200-52352000	Weak transcription	HSMMtube	muscle
40	chr13:52344200-52352600	Weak transcription	Esophagus	oesophagus
41	chr13:52344200-52357800	Weak transcription	HSMM	muscle
42	chr13:52344400-52348200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr13:52344400-52348400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr13:52344600-52355400	Weak transcription	Spleen	Spleen
45	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:52344800-52355600	Weak transcription	Right Ventricle	heart
47	chr13:52344800-52359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:52344800-52360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:52344800-52360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr13:52345000-52347200	Weak transcription	Brain Anterior Caudate	brain

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