Variant report

Variant	esv3368695
Chromosome Location	chr14:78318049-78320447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78266405..78268003-chr14:78318869..78321312,2	K562	blood:
2	chr14:78317373..78319812-chr14:78319839..78322835,2	MCF-7	breast:
3	chr14:78319863..78321612-chr14:78326389..78328976,3	K562	blood:
4	chr14:78317373..78319812-chr14:78319839..78322835,2	MCF-7	breast:
5	chr14:78265990..78268003-chr14:78318602..78321312,2	K562	blood:

Variant related genes	Relation type
ENSG00000063761	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370508407	chr14:78318065-78318066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185017628	chr14:78318170-78318171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147579383	chr14:78318176-78318177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11848126	chr14:78318268-78318269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536385342	chr14:78318288-78318289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536780562	chr14:78318314-78318315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546584378	chr14:78318343-78318344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566553182	chr14:78318348-78318349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538927380	chr14:78318395-78318396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558842193	chr14:78318404-78318405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2364744	chr14:78318405-78318406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538439412	chr14:78318416-78318417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554328809	chr14:78318466-78318467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551663801	chr14:78318489-78318490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28794568	chr14:78318490-78318491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540002098	chr14:78318491-78318492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8022673	chr14:78318523-78318524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187891962	chr14:78318534-78318535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546092636	chr14:78318584-78318585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562774317	chr14:78318615-78318616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531363031	chr14:78318628-78318629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113552486	chr14:78318629-78318630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561779149	chr14:78318683-78318684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553227061	chr14:78318785-78318786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147928493	chr14:78318824-78318825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578028082	chr14:78318845-78318846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192857600	chr14:78318866-78318867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148990932	chr14:78318916-78318917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552408855	chr14:78318927-78318928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs59608946	chr14:78318952-78318953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs59662643	chr14:78318975-78318976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558210994	chr14:78318999-78319000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs8006952	chr14:78319003-78319004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370053776	chr14:78319004-78319005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61496091	chr14:78319007-78319008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559798727	chr14:78319009-78319010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57561161	chr14:78319013-78319014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547925534	chr14:78319015-78319016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184386621	chr14:78319031-78319032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187967708	chr14:78319033-78319034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10131632	chr14:78319074-78319075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs202021979	chr14:78319223-78319224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10131746	chr14:78319224-78319225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375685804	chr14:78319225-78319226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10131747	chr14:78319226-78319227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56338375	chr14:78319251-78319252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56396469	chr14:78319252-78319253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55858530	chr14:78319253-78319254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56213830	chr14:78319254-78319255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55987421	chr14:78319255-78319256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78324000	Weak transcription	Ovary	ovary
3	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
4	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78301400-78325200	Weak transcription	Gastric	stomach
9	chr14:78301400-78325400	Weak transcription	Lung	lung
10	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
12	chr14:78302200-78331000	Weak transcription	Liver	Liver
13	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
18	chr14:78306600-78330400	Weak transcription	Dnd41	blood
19	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
23	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
26	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:78320000-78325200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:78320200-78320400	Enhancers	K562	blood
29	chr14:78320200-78320800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:78320400-78321600	Weak transcription	K562	blood

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