Variant report

Variant	esv3427557
Chromosome Location	chr14:47202251-47220278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114728193	chr14:47202343-47202344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs1462385	chr14:47202352-47202353	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569140520	chr14:47202394-47202395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs367984835	chr14:47202401-47202402	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80009606	chr14:47202514-47202515	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529396663	chr14:47202555-47202556	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138869729	chr14:47202603-47202604	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200440306	chr14:47202607-47202608	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373616308	chr14:47202619-47202620	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190414402	chr14:47202623-47202624	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367759839	chr14:47202628-47202629	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533761727	chr14:47202692-47202693	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551539392	chr14:47202704-47202705	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559384591	chr14:47202710-47202711	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12881538	chr14:47202752-47202753	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12881539	chr14:47202754-47202755	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12881540	chr14:47202760-47202761	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12881541	chr14:47202761-47202762	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12881685	chr14:47202767-47202768	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12882848	chr14:47202776-47202777	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12882858	chr14:47202799-47202800	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12882864	chr14:47202810-47202811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12882866	chr14:47202814-47202815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12881737	chr14:47202839-47202840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12881574	chr14:47202856-47202857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs17117595	chr14:47202909-47202910	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551391483	chr14:47202930-47202931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142158517	chr14:47202957-47202958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs55754403	chr14:47202980-47202981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs78365481	chr14:47203005-47203006	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530756301	chr14:47203011-47203012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549257898	chr14:47203018-47203019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12887191	chr14:47203019-47203020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12887208	chr14:47203042-47203043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs116691363	chr14:47203046-47203047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77170020	chr14:47203047-47203048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372750608	chr14:47203068-47203069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375541106	chr14:47203092-47203093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375094809	chr14:47203103-47203104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553120347	chr14:47203161-47203162	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115159526	chr14:47203170-47203171	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534070616	chr14:47203174-47203175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368650920	chr14:47203180-47203181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556722534	chr14:47203186-47203187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575171354	chr14:47203230-47203231	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs563841409	chr14:47203298-47203299	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs374678041	chr14:47203300-47203301	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543759806	chr14:47203342-47203343	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192098842	chr14:47203348-47203349	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs184194479	chr14:47203366-47203367	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47200600-47203800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr14:47201800-47203800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr14:47202200-47203800	Active TSS	Fetal Intestine Small	intestine
4	chr14:47202400-47202800	Enhancers	Fetal Intestine Large	intestine
5	chr14:47202400-47203800	Active TSS	Duodenum Mucosa	Duodenum
6	chr14:47202800-47203200	Active TSS	Fetal Intestine Large	intestine
7	chr14:47203000-47203600	Active TSS	Colonic Mucosa	Colon
8	chr14:47203200-47203600	Flanking Active TSS	Fetal Intestine Large	intestine
9	chr14:47203200-47203600	Active TSS	Rectal Smooth Muscle	rectum
10	chr14:47203200-47203600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr14:47203600-47203800	Active TSS	Fetal Intestine Large	intestine
12	chr14:47203800-47204200	Enhancers	Fetal Intestine Large	intestine
13	chr14:47215000-47216400	Enhancers	Fetal Intestine Large	intestine
14	chr14:47215000-47217200	Enhancers	Fetal Intestine Small	intestine
15	chr14:47216600-47217000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:47217000-47220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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