Variant report

Variant	esv2763053
Chromosome Location	chr13:111150915-111152191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111146550..111148284-chr13:111150740..111153734,2	K562	blood:
2	chr13:111145123..111148050-chr13:111150419..111153433,3	K562	blood:
3	chr13:111137982..111139929-chr13:111150615..111152724,2	K562	blood:
4	chr13:111147183..111148852-chr13:111151910..111153653,2	MCF-7	breast:
5	chr13:111149836..111151933-chr13:111211909..111213452,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs752615	chr13:111150915-111150916	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550847242	chr13:111150925-111150926	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552214860	chr13:111150934-111150935	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374954840	chr13:111150952-111150953	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193069307	chr13:111151068-111151069	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369164022	chr13:111151088-111151089	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183114058	chr13:111151135-111151136	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568722287	chr13:111151172-111151173	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368298142	chr13:111151213-111151214	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554468908	chr13:111151219-111151220	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566310462	chr13:111151227-111151228	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534814069	chr13:111151243-111151244	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187759381	chr13:111151251-111151252	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35656731	chr13:111151257-111151258	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577057058	chr13:111151259-111151260	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192550587	chr13:111151277-111151278	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376195851	chr13:111151283-111151284	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542599877	chr13:111151297-111151298	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574651773	chr13:111151298-111151299	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541727673	chr13:111151318-111151319	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148791153	chr13:111151347-111151348	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11618151	chr13:111151349-111151350	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375685	chr13:111151361-111151362	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542372788	chr13:111151420-111151421	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2077622	chr13:111151435-111151436	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs391780	chr13:111151460-111151461	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561290814	chr13:111151467-111151468	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562114346	chr13:111151499-111151500	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117855176	chr13:111151512-111151513	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2004854	chr13:111151519-111151520	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144236476	chr13:111151540-111151541	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2004853	chr13:111151577-111151578	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552240383	chr13:111151583-111151584	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7139823	chr13:111151627-111151628	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145131936	chr13:111151656-111151657	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556243388	chr13:111151674-111151675	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs392459	chr13:111151692-111151693	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150946160	chr13:111151694-111151695	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370449640	chr13:111151699-111151700	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553781308	chr13:111151700-111151701	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572049757	chr13:111151708-111151709	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs449554	chr13:111151730-111151731	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140856663	chr13:111151760-111151761	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183610827	chr13:111151781-111151782	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115521801	chr13:111151797-111151798	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566328274	chr13:111151803-111151804	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs150135425	chr13:111151808-111151809	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs116835825	chr13:111151816-111151817	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376714546	chr13:111151831-111151832	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs114173476	chr13:111151833-111151834	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111108800-111152200	Strong transcription	Fetal Intestine Small	intestine
2	chr13:111109000-111158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:111109600-111155800	Strong transcription	Fetal Intestine Large	intestine
4	chr13:111109600-111158800	Strong transcription	Ovary	ovary
5	chr13:111109800-111152600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:111109800-111168000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:111117200-111152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:111119200-111159200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:111119600-111160400	Weak transcription	Brain Germinal Matrix	brain
10	chr13:111124400-111152000	Strong transcription	Osteobl	bone
11	chr13:111124400-111167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:111125600-111157800	Weak transcription	Small Intestine	intestine
13	chr13:111127600-111153000	Weak transcription	Brain Substantia Nigra	brain
14	chr13:111127600-111156200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:111130600-111155400	Strong transcription	Left Ventricle	heart
16	chr13:111131000-111151200	Weak transcription	Right Atrium	heart
17	chr13:111131000-111151800	Strong transcription	HUVEC	blood vessel
18	chr13:111131000-111162800	Weak transcription	Fetal Brain Male	brain
19	chr13:111131400-111158000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:111131800-111159400	Weak transcription	Esophagus	oesophagus
21	chr13:111132200-111151800	Strong transcription	Adipose Nuclei	Adipose
22	chr13:111132200-111152200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:111132200-111158400	Strong transcription	Colon Smooth Muscle	Colon
24	chr13:111132200-111158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:111138800-111155400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr13:111139600-111157800	Strong transcription	Placenta	Placenta
27	chr13:111139600-111166400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:111139600-111166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr13:111139800-111155400	Strong transcription	Right Ventricle	heart
30	chr13:111139800-111155600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:111139800-111158000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:111140000-111151600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:111140200-111167200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr13:111140800-111153000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:111140800-111166600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:111141000-111152600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:111141000-111159000	Strong transcription	NHLF	lung
38	chr13:111141600-111165600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:111141800-111155400	Strong transcription	Spleen	Spleen
40	chr13:111143200-111156400	Weak transcription	Stomach Mucosa	stomach
41	chr13:111143400-111166800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr13:111143600-111159000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:111145200-111155800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr13:111145400-111151800	Strong transcription	Fetal Muscle Leg	muscle
45	chr13:111145800-111160200	Weak transcription	Psoas Muscle	Psoas
46	chr13:111146000-111151200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr13:111146200-111151800	Weak transcription	Liver	Liver
48	chr13:111146800-111151800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:111146800-111156200	Strong transcription	HSMM	muscle
50	chr13:111147000-111152000	Strong transcription	NHEK	skin

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