Variant report

Variant	esv1811223
Chromosome Location	chr14:79967761-79981954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:79962362..79964375-chr14:79965844..79968447,2	K562	blood:
2	chr14:79879666..79880608-chr14:79981324..79981922,3	MCF-7	breast:
3	chr14:79879666..79880179-chr14:79981324..79981914,2	MCF-7	breast:

Extended variants
information (count: 536 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17109313	chr14:79967761-79967762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs56111431	chr14:79967857-79967858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536426171	chr14:79967910-79967911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192474671	chr14:79967996-79967997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573223522	chr14:79968056-79968057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5809937	chr14:79968089-79968090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566047702	chr14:79968090-79968091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539145553	chr14:79968112-79968113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558477023	chr14:79968115-79968116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568232399	chr14:79968177-79968178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184865782	chr14:79968189-79968190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544239612	chr14:79968190-79968191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560845407	chr14:79968210-79968211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574418677	chr14:79968219-79968220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146064176	chr14:79968222-79968223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369628802	chr14:79968235-79968236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570583621	chr14:79968259-79968260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529188324	chr14:79968296-79968297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560310195	chr14:79968307-79968308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188080045	chr14:79968313-79968314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552249997	chr14:79968319-79968320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77852184	chr14:79968344-79968345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193073379	chr14:79968354-79968355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140060304	chr14:79968365-79968366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567946814	chr14:79968372-79968373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185267277	chr14:79968433-79968434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546851380	chr14:79968473-79968474	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189294860	chr14:79968475-79968476	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538718130	chr14:79968491-79968492	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558618260	chr14:79968520-79968521	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572614346	chr14:79968540-79968541	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386779159	chr14:79968635-79968636	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185083558	chr14:79968636-79968637	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554576511	chr14:79968674-79968675	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574608767	chr14:79968727-79968728	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540540756	chr14:79968748-79968749	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11848580	chr14:79968788-79968789	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117291862	chr14:79968810-79968811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546070233	chr14:79968844-79968845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376627266	chr14:79968852-79968853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11848640	chr14:79968863-79968864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71103809	chr14:79968864-79968865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373455765	chr14:79968878-79968879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74567749	chr14:79968879-79968880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568117765	chr14:79968886-79968887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567613197	chr14:79968892-79968893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74243803	chr14:79968909-79968910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149377194	chr14:79968938-79968939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143995478	chr14:79968982-79968983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148674823	chr14:79969096-79969097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79966000-79976400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:79967000-79967800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:79967600-79968800	Weak transcription	Brain Germinal Matrix	brain
4	chr14:79967800-79968000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:79967800-79969400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:79968000-79968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:79968200-79968400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:79968200-79968400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:79968400-79968600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:79968400-79968800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:79968400-79969200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:79968400-79969200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:79968400-79969200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:79968400-79969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:79968400-79969200	Enhancers	Fetal Lung	lung
16	chr14:79968400-79969400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:79968400-79969400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:79968600-79968800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:79968600-79969400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:79968800-79969000	Enhancers	Brain Germinal Matrix	brain
21	chr14:79968800-79969200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:79969000-79969200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:79969000-79969400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr14:79969000-79971200	Weak transcription	Brain Germinal Matrix	brain
25	chr14:79975000-79982200	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:79975800-79976800	Weak transcription	Brain Germinal Matrix	brain
27	chr14:79976400-79977400	Enhancers	Stomach Smooth Muscle	stomach
28	chr14:79976400-79977600	Enhancers	NHEK	skin
29	chr14:79976400-79977800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:79976600-79976800	Enhancers	HSMMtube	muscle
31	chr14:79976600-79977400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:79976600-79977600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:79976600-79977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:79976600-79977800	Enhancers	HSMM	muscle
35	chr14:79976600-79977800	Enhancers	NH-A	brain
36	chr14:79976600-79978000	Enhancers	NHLF	lung
37	chr14:79976800-79977000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:79976800-79977200	Flanking Active TSS	HSMMtube	muscle
39	chr14:79976800-79977200	Enhancers	Osteobl	bone
40	chr14:79976800-79977600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:79976800-79977800	Enhancers	Brain Germinal Matrix	brain
42	chr14:79977000-79977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:79977000-79977800	Enhancers	Fetal Muscle Leg	muscle
44	chr14:79977200-79977600	Enhancers	Fetal Lung	lung
45	chr14:79977200-79977800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:79977200-79977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:79977200-79977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:79977200-79978000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:79977200-79978000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:79977200-79978000	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links