Variant report

Variant	esv3363142
Chromosome Location	chr14:32083250-32120361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1635 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1635 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149198338	chr14:32083267-32083268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112585381	chr14:32083293-32083294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17390625	chr14:32083365-32083366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181669076	chr14:32083530-32083531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58034172	chr14:32083603-32083604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545991341	chr14:32083633-32083634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564286780	chr14:32083664-32083665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373013959	chr14:32083688-32083689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184575123	chr14:32083700-32083701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553061363	chr14:32083705-32083706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372586483	chr14:32083720-32083721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560880150	chr14:32083724-32083725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77181201	chr14:32083743-32083744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140580026	chr14:32083877-32083878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78961212	chr14:32083922-32083923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144610328	chr14:32083966-32083967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138548748	chr14:32083979-32083980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188500908	chr14:32084007-32084008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77146245	chr14:32084020-32084021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs181216669	chr14:32084042-32084043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs11625312	chr14:32084062-32084063	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568103700	chr14:32084081-32084082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140233467	chr14:32084135-32084136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112068987	chr14:32084167-32084168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374111901	chr14:32084181-32084182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374252443	chr14:32084243-32084244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185828180	chr14:32084244-32084245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190933818	chr14:32084302-32084303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374297593	chr14:32084387-32084388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117459220	chr14:32084388-32084389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558110952	chr14:32084389-32084390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58188991	chr14:32084407-32084408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540091894	chr14:32084417-32084418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553388499	chr14:32084501-32084502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180944477	chr14:32084511-32084512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187240962	chr14:32084545-32084546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574635609	chr14:32084623-32084624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542180740	chr14:32084654-32084655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191994358	chr14:32084658-32084659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530849172	chr14:32084671-32084672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546067863	chr14:32084683-32084684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564487483	chr14:32084696-32084697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528676939	chr14:32084735-32084736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145377098	chr14:32084737-32084738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568119182	chr14:32084827-32084828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374441036	chr14:32084858-32084859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528992981	chr14:32084872-32084873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550729459	chr14:32084894-32084895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137974409	chr14:32084916-32084917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111672750	chr14:32084919-32084920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32046200-32110600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:32052800-32089800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:32065800-32089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:32065800-32089800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:32067600-32090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:32069600-32092200	Weak transcription	Right Ventricle	heart
7	chr14:32069600-32102800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:32069800-32085400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:32069800-32086000	Weak transcription	Fetal Kidney	kidney
10	chr14:32069800-32089800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:32069800-32089800	Weak transcription	Ovary	ovary
12	chr14:32069800-32091400	Weak transcription	Left Ventricle	heart
13	chr14:32076200-32089000	Weak transcription	Primary T cells from cord blood	blood
14	chr14:32076400-32091000	Weak transcription	A549	lung
15	chr14:32083800-32084200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr14:32084200-32084600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:32085200-32089800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:32086000-32089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:32087600-32089200	Enhancers	HepG2	liver
20	chr14:32087800-32089800	Weak transcription	Pancreas	Pancrea
21	chr14:32088000-32088600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:32088000-32093600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:32088200-32089800	Weak transcription	Colonic Mucosa	Colon
24	chr14:32088800-32089800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:32088800-32091600	Weak transcription	Gastric	stomach
26	chr14:32089000-32089200	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr14:32089000-32090000	ZNF genes & repeats	Fetal Brain Female	brain
28	chr14:32089000-32090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:32089000-32091600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:32089200-32089600	Weak transcription	Primary T cells from cord blood	blood
31	chr14:32089200-32090400	Weak transcription	HepG2	liver
32	chr14:32089200-32090600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:32089400-32093400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:32089600-32089800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:32089600-32090000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:32089600-32092200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr14:32089600-32092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:32089600-32092400	Strong transcription	Primary T cells from cord blood	blood
39	chr14:32089600-32092400	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr14:32089800-32090000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:32089800-32090200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:32089800-32090400	Strong transcription	Ovary	ovary
43	chr14:32089800-32090600	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr14:32089800-32090600	Weak transcription	Dnd41	blood
45	chr14:32089800-32090800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr14:32089800-32090800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:32089800-32090800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:32089800-32090800	Strong transcription	Colonic Mucosa	Colon
49	chr14:32089800-32090800	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr14:32089800-32090800	Strong transcription	Pancreas	Pancrea

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