Variant report

Variant	esv19901
Chromosome Location	chr13:97991827-97992339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97990074..97993792-chr13:97995202..97997609,3	K562	blood:
2	chr13:97985220..97987596-chr13:97990645..97993198,3	K562	blood:
3	chr13:97887496..97890340-chr13:97991017..97992548,2	K562	blood:
4	chr13:97992267..97994078-chr13:98009808..98011602,2	K562	blood:
5	chr13:97992068..97993792-chr13:97995269..97997609,2	K562	blood:
6	chr13:97907616..97910279-chr13:97990865..97992598,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572947592	chr13:97991829-97991830	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564468804	chr13:97991859-97991860	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541189515	chr13:97991915-97991916	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76393021	chr13:97991964-97991965	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569898371	chr13:97991999-97992000	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111387881	chr13:97992060-97992061	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374367246	chr13:97992072-97992073	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548724454	chr13:97992105-97992106	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs370964726	chr13:97992122-97992123	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142257683	chr13:97992125-97992126	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386773676	chr13:97992126-97992127	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201809258	chr13:97992127-97992128	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576577245	chr13:97992128-97992129	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567128737	chr13:97992129-97992130	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200446197	chr13:97992137-97992138	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571138609	chr13:97992154-97992155	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556202866	chr13:97992163-97992164	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537013148	chr13:97992190-97992191	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556702158	chr13:97992200-97992201	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576627120	chr13:97992215-97992216	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9516912	chr13:97992230-97992231	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541763734	chr13:97992260-97992261	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187693962	chr13:97992270-97992271	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201867169	chr13:97992287-97992288	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561636932	chr13:97992320-97992321	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192137603	chr13:97992324-97992325	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183962884	chr13:97992335-97992336	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs578045660	chr13:97992337-97992338	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Omodysplasia	19481194	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
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
2	chr13:97981000-97998800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:97982000-98002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:97982000-98009000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:97984000-98000800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:97984400-97992400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:97985600-97992800	Strong transcription	HepG2	liver
9	chr13:97985800-97992000	Strong transcription	Primary B cells from cord blood	blood
10	chr13:97986200-98003200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:97986400-97992000	Strong transcription	Primary T cells from cord blood	blood
12	chr13:97986400-97992400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:97986600-97998400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr13:97988000-97992200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:97988200-97992200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:97989200-97999000	Weak transcription	Colonic Mucosa	Colon
17	chr13:97989400-97993200	Genic enhancers	Liver	Liver
18	chr13:97989400-97996600	Weak transcription	Fetal Thymus	thymus
19	chr13:97989400-97999200	Weak transcription	NH-A	brain
20	chr13:97989600-97998600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:97989600-97999400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:97989800-97995200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:97990000-97993000	Weak transcription	Hela-S3	cervix
24	chr13:97990000-97995600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:97990000-97998600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:97990400-97992000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:97990400-97992000	Genic enhancers	Pancreas	Pancrea
28	chr13:97990400-97992000	Enhancers	Psoas Muscle	Psoas
29	chr13:97990400-97992400	Genic enhancers	Lung	lung
30	chr13:97990400-97992600	Enhancers	Right Atrium	heart
31	chr13:97990600-97994600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:97990800-97992000	Genic enhancers	Fetal Stomach	stomach
33	chr13:97990800-97992200	Enhancers	Aorta	Aorta
34	chr13:97990800-97992600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr13:97991000-97992400	Enhancers	Colon Smooth Muscle	Colon
36	chr13:97991000-97995200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:97991000-97995200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:97991000-97995200	Weak transcription	Placenta	Placenta
39	chr13:97991200-97992000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:97991200-97992000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr13:97991200-97992000	Genic enhancers	K562	blood
42	chr13:97991200-97992200	Enhancers	Ovary	ovary
43	chr13:97991200-97992400	Enhancers	Left Ventricle	heart
44	chr13:97991200-97992600	Flanking Active TSS	NHDF-Ad	bronchial
45	chr13:97991200-97995200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:97991200-97998800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:97991400-97992000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:97991400-97992000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:97991400-97992000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr13:97991400-97992000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links