Variant report

Variant	nsv1139
Chromosome Location	chr13:98133793-98178130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98137969..98140172-chr13:98141764..98143369,2	K562	blood:
2	chr13:98149109..98152096-chr17:57919592..57922108,2	MCF-7	breast:
3	chr10:42531904..42532590-chr13:98148609..98149589,2	MCF-7	breast:
4	chr13:98086485..98088479-chr13:98132140..98136116,3	MCF-7	breast:
5	chr13:98169055..98171746-chr13:98186390..98189214,2	K562	blood:
6	chr13:98137969..98140172-chr13:98141764..98143369,2	K562	blood:

Variant related genes	Relation type
ENSG00000125249	chromatin interactions

Extended variants
information (count: 959 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:959 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191807205	chr13:98133820-98133821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150929836	chr13:98133843-98133844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558990225	chr13:98133893-98133894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542838824	chr13:98133898-98133899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373356074	chr13:98133901-98133902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9554398	chr13:98133913-98133914	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551543633	chr13:98133935-98133936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183252386	chr13:98134046-98134047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545055276	chr13:98134081-98134082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565050978	chr13:98134137-98134138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371649614	chr13:98134148-98134149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530782830	chr13:98134173-98134174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550978957	chr13:98134329-98134330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561007008	chr13:98134349-98134350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530042356	chr13:98134396-98134397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368828353	chr13:98134409-98134410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527917150	chr13:98134439-98134440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546473199	chr13:98134478-98134479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566621799	chr13:98134545-98134546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141987745	chr13:98134580-98134581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552266960	chr13:98134676-98134677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568995884	chr13:98134800-98134801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537743637	chr13:98134842-98134843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537422627	chr13:98134849-98134850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554585210	chr13:98134868-98134869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574243802	chr13:98134871-98134872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78357796	chr13:98134892-98134893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372851587	chr13:98134979-98134980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79028614	chr13:98134999-98135000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77836057	chr13:98135032-98135033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545178976	chr13:98135080-98135081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188664222	chr13:98135119-98135120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547667874	chr13:98135150-98135151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535569506	chr13:98135153-98135154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7322222	chr13:98135161-98135162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs191058172	chr13:98135172-98135173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76015705	chr13:98135237-98135238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182721115	chr13:98135262-98135263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78723602	chr13:98135319-98135320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532376935	chr13:98135338-98135339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371305646	chr13:98135430-98135431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568987919	chr13:98135484-98135485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186732671	chr13:98135533-98135534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9556725	chr13:98135575-98135576	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568092431	chr13:98135644-98135645	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141720415	chr13:98135665-98135666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573353893	chr13:98135703-98135704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553282757	chr13:98135738-98135739	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566799013	chr13:98135820-98135821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs75710251	chr13:98135826-98135827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98108600-98134600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:98128200-98136200	Weak transcription	Fetal Lung	lung
3	chr13:98132200-98135600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:98134600-98134800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:98135600-98137000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:98135800-98137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:98136200-98137000	Enhancers	Fetal Lung	lung
8	chr13:98136200-98137000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr13:98137000-98137600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:98137400-98138200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:98138800-98139000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr13:98142600-98145200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:98143200-98145800	Enhancers	HepG2	liver
14	chr13:98144000-98144200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:98144200-98145600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:98144200-98148200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:98144600-98145000	Enhancers	HUVEC	blood vessel
18	chr13:98145200-98145600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:98145600-98146000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:98145800-98146200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:98145800-98147800	Weak transcription	HepG2	liver
22	chr13:98146000-98150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:98147400-98154400	Weak transcription	Right Atrium	heart
24	chr13:98147600-98148000	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:98147600-98150600	Enhancers	Fetal Stomach	stomach
26	chr13:98147800-98148000	Enhancers	Fetal Muscle Leg	muscle
27	chr13:98147800-98151200	Enhancers	HepG2	liver
28	chr13:98148000-98153800	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:98148200-98148400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr13:98148200-98149200	Enhancers	Fetal Lung	lung
31	chr13:98148400-98148800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:98148800-98149200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:98148800-98149200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr13:98148800-98149200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:98148800-98149400	Enhancers	Fetal Intestine Small	intestine
36	chr13:98149000-98149200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:98149000-98149200	Enhancers	Fetal Intestine Large	intestine
38	chr13:98149000-98149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:98149000-98150400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:98149200-98149400	Enhancers	Placenta	Placenta
41	chr13:98149200-98150000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:98149200-98150200	Weak transcription	Fetal Intestine Large	intestine
43	chr13:98149200-98154200	Weak transcription	Fetal Lung	lung
44	chr13:98149200-98156400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:98149400-98149800	Weak transcription	Fetal Intestine Small	intestine
46	chr13:98149400-98154000	Weak transcription	Placenta	Placenta
47	chr13:98149800-98150200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:98149800-98151600	Enhancers	Fetal Intestine Small	intestine
49	chr13:98150000-98150400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:98150200-98151400	Enhancers	Fetal Intestine Large	intestine

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