Variant report

Variant	nsv522179
Chromosome Location	chr13:95888104-95892356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95889610..95892047-chr13:95952813..95954487,2	K562	blood:
2	chr13:95889668..95892228-chr13:95954506..95956697,2	K562	blood:
3	chr13:95881851..95884038-chr13:95887592..95891206,3	K562	blood:
4	chr13:95890021..95893385-chr13:95895054..95897743,4	K562	blood:

Variant related genes	Relation type
ENSG00000125257	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4148456	chr13:95888104-95888105	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368178201	chr13:95888110-95888111	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557586548	chr13:95888113-95888114	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147029509	chr13:95888139-95888140	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543296494	chr13:95888161-95888162	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138135982	chr13:95888201-95888202	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182609396	chr13:95888209-95888210	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372677461	chr13:95888245-95888246	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186243993	chr13:95888255-95888256	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4148455	chr13:95888277-95888278	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547748920	chr13:95888278-95888279	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9590207	chr13:95888344-95888345	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533456053	chr13:95888356-95888357	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534033860	chr13:95888403-95888404	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191819787	chr13:95888425-95888426	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149647387	chr13:95888431-95888432	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111635720	chr13:95888433-95888434	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536014428	chr13:95888444-95888445	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549713116	chr13:95888507-95888508	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183244732	chr13:95888528-95888529	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189100395	chr13:95888551-95888552	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552271903	chr13:95888557-95888558	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35347010	chr13:95888620-95888621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200065071	chr13:95888622-95888623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557727542	chr13:95888631-95888632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9634642	chr13:95888671-95888672	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs114592667	chr13:95888679-95888680	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16950824	chr13:95888682-95888683	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369212045	chr13:95888728-95888729	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144386743	chr13:95888731-95888732	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372777597	chr13:95888758-95888759	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191855235	chr13:95888767-95888768	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552877915	chr13:95888785-95888786	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114306497	chr13:95888801-95888802	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541107399	chr13:95888804-95888805	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2153673	chr13:95888823-95888824	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533127342	chr13:95888832-95888833	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147953014	chr13:95888838-95888839	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60317362	chr13:95888839-95888840	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs72218535	chr13:95888842-95888843	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549574518	chr13:95888843-95888844	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58122333	chr13:95888845-95888846	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566419720	chr13:95888847-95888848	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202101557	chr13:95888850-95888851	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79312488	chr13:95888851-95888852	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201508430	chr13:95888853-95888854	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75342761	chr13:95888854-95888855	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200474651	chr13:95888856-95888857	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200550430	chr13:95888857-95888858	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61972723	chr13:95888858-95888859	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	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
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
2	chr13:95856400-95898200	Weak transcription	NHEK	skin
3	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
4	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
10	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:95863200-95895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:95866200-95897400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:95866200-95897600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:95872000-95897600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:95872200-95897400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:95874800-95888200	Weak transcription	NHLF	lung
17	chr13:95874800-95897800	Weak transcription	Pancreas	Pancrea
18	chr13:95874800-95898200	Weak transcription	Colonic Mucosa	Colon
19	chr13:95875000-95897600	Weak transcription	Fetal Intestine Large	intestine
20	chr13:95879200-95907400	Weak transcription	Small Intestine	intestine
21	chr13:95879200-95914000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr13:95879400-95897400	Weak transcription	Fetal Intestine Small	intestine
23	chr13:95879600-95893800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:95879600-95898200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
26	chr13:95880800-95898600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr13:95880800-95902400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:95881600-95904000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:95882200-95898200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:95884000-95895400	Weak transcription	Lung	lung
31	chr13:95884000-95898200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:95884200-95901200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:95884600-95898200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr13:95884800-95906400	Weak transcription	Hela-S3	cervix
35	chr13:95885600-95888400	Enhancers	Primary B cells from peripheral blood	blood
36	chr13:95885800-95888600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:95885800-95889200	Weak transcription	K562	blood
38	chr13:95887000-95918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:95887200-95888600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:95887200-95890800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:95887200-95898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:95887600-95888200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:95887600-95888400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:95887600-95888400	Enhancers	Gastric	stomach
45	chr13:95887600-95888400	Enhancers	Thymus	Thymus
46	chr13:95887600-95888600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:95887600-95889000	Enhancers	HUVEC	blood vessel
48	chr13:95887600-95890200	Genic enhancers	A549	lung
49	chr13:95887800-95888400	Enhancers	Brain Anterior Caudate	brain
50	chr13:95887800-95888600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links