Variant report

Variant	esv3405709
Chromosome Location	chr13:111131251-111135749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111123294..111125798-chr13:111130475..111133407,2	K562	blood:
2	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:
3	chr13:111132025..111133976-chr13:111134676..111137349,2	MCF-7	breast:
4	chr13:111132025..111133976-chr13:111134676..111137349,2	MCF-7	breast:
5	chr13:111134838..111136595-chr13:111159284..111162082,2	MCF-7	breast:
6	chr13:111131234..111133582-chr13:111158039..111159936,2	K562	blood:

Variant related genes	Relation type
ENSG00000134871	chromatin interactions
ENSG00000232814	chromatin interactions

Extended variants
information (count: 324 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80259991	chr13:111131288-111131289	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74376660	chr13:111131317-111131318	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560095887	chr13:111131387-111131388	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183447312	chr13:111131419-111131420	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149382284	chr13:111131420-111131421	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564243354	chr13:111131459-111131460	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56023078	chr13:111131468-111131469	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550036955	chr13:111131470-111131471	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372950516	chr13:111131486-111131487	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147052702	chr13:111131496-111131497	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56134938	chr13:111131509-111131510	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369999189	chr13:111131512-111131513	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374508032	chr13:111131588-111131589	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551439292	chr13:111131622-111131623	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77461844	chr13:111131625-111131626	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77546293	chr13:111131668-111131669	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539513696	chr13:111131676-111131677	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557853330	chr13:111131693-111131694	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569848311	chr13:111131697-111131698	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547919077	chr13:111131701-111131702	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9521802	chr13:111131731-111131732	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555972512	chr13:111131743-111131744	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113949061	chr13:111131763-111131764	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541718583	chr13:111131784-111131785	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553453368	chr13:111131795-111131796	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572090378	chr13:111131801-111131802	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375887034	chr13:111131809-111131810	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71127944	chr13:111131810-111131811	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188509361	chr13:111131826-111131827	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74950638	chr13:111131852-111131853	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531477677	chr13:111131861-111131862	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531076365	chr13:111131884-111131885	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76823366	chr13:111131887-111131888	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191842847	chr13:111131901-111131902	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529136731	chr13:111131939-111131940	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547686403	chr13:111131942-111131943	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4773193	chr13:111131950-111131951	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533135842	chr13:111132008-111132009	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551401715	chr13:111132043-111132044	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182584322	chr13:111132063-111132064	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186914406	chr13:111132090-111132091	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555639831	chr13:111132096-111132097	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567861203	chr13:111132108-111132109	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534977616	chr13:111132121-111132122	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61968352	chr13:111132160-111132161	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191381245	chr13:111132162-111132163	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529152937	chr13:111132171-111132172	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371643774	chr13:111132173-111132174	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557836711	chr13:111132182-111132183	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549207509	chr13:111132204-111132205	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach
6	chr13:111108600-111150600	Weak transcription	NHDF-Ad	bronchial
7	chr13:111108800-111148800	Weak transcription	Brain Angular Gyrus	brain
8	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
9	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
11	chr13:111109600-111158800	Strong transcription	Ovary	ovary
12	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:111114000-111131600	Strong transcription	Colon Smooth Muscle	Colon
15	chr13:111114200-111138800	Strong transcription	Aorta	Aorta
16	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:111119000-111142600	Weak transcription	Stomach Mucosa	stomach
18	chr13:111119000-111143600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:111119200-111138200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:111119200-111150400	Weak transcription	Brain Anterior Caudate	brain
21	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:111119600-111139800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
24	chr13:111124200-111131400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:111124200-111137400	Strong transcription	NH-A	brain
26	chr13:111124200-111144600	Weak transcription	Liver	Liver
27	chr13:111124400-111136200	Strong transcription	HSMM	muscle
28	chr13:111124400-111139000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr13:111124400-111152000	Strong transcription	Osteobl	bone
30	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:111124600-111131400	Strong transcription	NHLF	lung
32	chr13:111125200-111136800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:111125400-111131400	Strong transcription	NHEK	skin
34	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
35	chr13:111127400-111131400	Weak transcription	Esophagus	oesophagus
36	chr13:111127400-111132800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:111127400-111134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr13:111127400-111134400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:111127400-111134400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:111127400-111147400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:111127400-111148200	Weak transcription	Brain Hippocampus Middle	brain
42	chr13:111127400-111148600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr13:111127600-111132800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr13:111127600-111136800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:111127600-111144600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr13:111127600-111148600	Strong transcription	Lung	lung
47	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
48	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr13:111127800-111133800	Weak transcription	Gastric	stomach
50	chr13:111127800-111147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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