Variant report

Variant	esv3420463
Chromosome Location	chr13:110871226-110873474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558750507	chr13:110871230-110871231	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs57091515	chr13:110871243-110871244	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535128884	chr13:110871309-110871310	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs3783101	chr13:110871312-110871313	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574823921	chr13:110871341-110871342	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192254461	chr13:110871383-110871384	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529264442	chr13:110871395-110871396	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184454095	chr13:110871396-110871397	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561031744	chr13:110871414-110871415	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs645511	chr13:110871418-110871419	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12430234	chr13:110871422-110871423	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546072469	chr13:110871423-110871424	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72654145	chr13:110871424-110871425	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528262352	chr13:110871433-110871434	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548310745	chr13:110871458-110871459	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561604357	chr13:110871467-110871468	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565808044	chr13:110871485-110871486	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188806176	chr13:110871491-110871492	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550178441	chr13:110871500-110871501	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528413292	chr13:110871539-110871540	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377564477	chr13:110871563-110871564	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs666338	chr13:110871573-110871574	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538952320	chr13:110871588-110871589	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552413054	chr13:110871626-110871627	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112158630	chr13:110871645-110871646	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566303913	chr13:110871648-110871649	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551278182	chr13:110871710-110871711	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534904910	chr13:110871712-110871713	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529943548	chr13:110871716-110871717	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549482169	chr13:110871726-110871727	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568475821	chr13:110871751-110871752	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs593564	chr13:110871759-110871760	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs111532673	chr13:110871776-110871777	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557394398	chr13:110871794-110871795	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116267602	chr13:110871812-110871813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139234064	chr13:110871818-110871819	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546157664	chr13:110871902-110871903	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181238414	chr13:110871926-110871927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573020076	chr13:110871944-110871945	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71440054	chr13:110871996-110871997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561888973	chr13:110872005-110872006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202157991	chr13:110872007-110872008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375170707	chr13:110872009-110872010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373951292	chr13:110872010-110872011	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200412364	chr13:110872011-110872012	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78148419	chr13:110872013-110872014	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202135160	chr13:110872015-110872016	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200155547	chr13:110872017-110872018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67727932	chr13:110872023-110872024	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373618952	chr13:110872025-110872026	Weak transcription Strong transcription Genic enhancers Enhancers	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:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110829600-110874400	Weak transcription	A549	lung
2	chr13:110836400-110874200	Weak transcription	Esophagus	oesophagus
3	chr13:110846400-110879800	Weak transcription	Pancreas	Pancrea
4	chr13:110853600-110879800	Weak transcription	Gastric	stomach
5	chr13:110865200-110871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:110865400-110874400	Weak transcription	Colonic Mucosa	Colon
7	chr13:110866000-110873400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:110866200-110874000	Weak transcription	NHEK	skin
9	chr13:110866200-110882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110866400-110885000	Weak transcription	Fetal Intestine Large	intestine
11	chr13:110866600-110874200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:110866600-110874200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:110866600-110874400	Weak transcription	Fetal Intestine Small	intestine
14	chr13:110866800-110871400	Enhancers	Colon Smooth Muscle	Colon
15	chr13:110867000-110871800	Enhancers	Fetal Lung	lung
16	chr13:110867200-110871600	Enhancers	Rectal Smooth Muscle	rectum
17	chr13:110867200-110871800	Enhancers	Fetal Muscle Leg	muscle
18	chr13:110868000-110871400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr13:110868000-110871600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:110868000-110871800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:110868200-110871600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:110868200-110871600	Enhancers	Placenta	Placenta
23	chr13:110868200-110871600	Enhancers	Right Atrium	heart
24	chr13:110868200-110872000	Enhancers	NHDF-Ad	bronchial
25	chr13:110868400-110871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:110868400-110872000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr13:110868400-110874400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr13:110868400-110874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:110868600-110881400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:110868800-110871800	Enhancers	NHLF	lung
31	chr13:110869000-110898800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:110869400-110872000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:110869400-110883600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:110869800-110873000	Weak transcription	Ovary	ovary
35	chr13:110869800-110874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:110869800-110874200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:110869800-110874400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:110869800-110879800	Weak transcription	Psoas Muscle	Psoas
39	chr13:110869800-110883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:110870000-110873000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr13:110870000-110873200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:110870000-110873200	Weak transcription	Fetal Stomach	stomach
43	chr13:110870000-110874200	Weak transcription	HMEC	breast
44	chr13:110870000-110874400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:110870000-110874400	Weak transcription	HSMMtube	muscle
46	chr13:110870200-110874200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:110870200-110874200	Weak transcription	HUVEC	blood vessel
48	chr13:110870200-110874400	Weak transcription	Brain Angular Gyrus	brain
49	chr13:110870200-110878200	Weak transcription	Fetal Kidney	kidney
50	chr13:110870200-110878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links