Variant report

Variant	nsv523795
Chromosome Location	chr14:69216412-69219896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69217775..69219892-chr14:69226719..69229166,2	K562	blood:
2	chr14:69217090..69220380-chr14:69222883..69225939,5	K562	blood:
3	chr14:69206060..69208927-chr14:69216486..69218861,2	MCF-7	breast:
4	chr14:69218982..69221313-chr14:69251306..69253828,3	MCF-7	breast:
5	chr14:69206368..69210602-chr14:69212379..69216516,4	K562	blood:
6	chr14:69218392..69222531-chr14:69227666..69230740,3	K562	blood:
7	chr14:69215425..69218916-chr14:69220182..69222789,4	K562	blood:
8	chr14:69218946..69221608-chr14:69261319..69263953,3	K562	blood:
9	chr14:69212479..69217981-chr14:69255953..69262357,9	K562	blood:
10	chr14:69210895..69217826-chr14:69255953..69264501,15	K562	blood:
11	chr14:69214304..69216670-chr14:69253517..69255895,2	K562	blood:
12	chr14:69218208..69219054-chrX:130249585..130250410,2	MCF-7	breast:
13	chr14:69183888..69188009-chr14:69213725..69217312,4	K562	blood:
14	chr14:69217466..69219911-chr14:69223716..69225939,2	K562	blood:
15	chr14:69217473..69219591-chr14:69224474..69226175,2	MCF-7	breast:
16	chr14:69206574..69210602-chr14:69211879..69218026,8	K562	blood:
17	chr14:69211410..69213846-chr14:69215945..69218406,2	K562	blood:
18	chr14:69219042..69221394-chr14:69250873..69253733,2	MCF-7	breast:
19	chr14:69218627..69226949-chr14:69256316..69264627,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs194753	chr14:69216412-69216413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567951217	chr14:69216422-69216423	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56082161	chr14:69216424-69216425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553584001	chr14:69216426-69216427	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188289528	chr14:69216452-69216453	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs194752	chr14:69216475-69216476	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
7	rs557946135	chr14:69216479-69216480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141491931	chr14:69216525-69216526	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543734356	chr14:69216536-69216537	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562438482	chr14:69216631-69216632	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558949821	chr14:69216637-69216638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544330026	chr14:69216667-69216668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112854834	chr14:69216688-69216689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573942221	chr14:69216706-69216707	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541460070	chr14:69216764-69216765	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369925732	chr14:69216772-69216773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369226785	chr14:69216788-69216789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559835785	chr14:69216802-69216803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533472823	chr14:69216826-69216827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552364450	chr14:69216844-69216845	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181116346	chr14:69216856-69216857	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531570420	chr14:69216863-69216864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185662565	chr14:69216864-69216865	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568392038	chr14:69216873-69216874	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78052616	chr14:69216875-69216876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71685997	chr14:69216979-69216980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1977215	chr14:69216988-69216989	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71102605	chr14:69217010-69217011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57410106	chr14:69217022-69217023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs202235923	chr14:69217025-69217026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117122733	chr14:69217056-69217057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565403602	chr14:69217117-69217118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539166967	chr14:69217154-69217155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77840860	chr14:69217180-69217181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576213798	chr14:69217181-69217182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537691558	chr14:69217220-69217221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560921153	chr14:69217243-69217244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140965290	chr14:69217270-69217271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369460582	chr14:69217290-69217291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544924293	chr14:69217319-69217320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576331309	chr14:69217325-69217326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188907304	chr14:69217336-69217337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541023873	chr14:69217341-69217342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553417869	chr14:69217366-69217367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578092489	chr14:69217385-69217386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545505219	chr14:69217430-69217431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563815854	chr14:69217452-69217453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181579579	chr14:69217508-69217509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75266904	chr14:69217523-69217524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561795177	chr14:69217572-69217573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69201200-69222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:69204200-69219200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69213800-69216600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:69213800-69216800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:69213800-69217000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:69213800-69217000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:69213800-69217000	Enhancers	Placenta	Placenta
10	chr14:69213800-69217200	Enhancers	Esophagus	oesophagus
11	chr14:69213800-69217200	Enhancers	Fetal Heart	heart
12	chr14:69213800-69217400	Enhancers	HepG2	liver
13	chr14:69213800-69217400	Enhancers	K562	blood
14	chr14:69213800-69217800	Enhancers	Colon Smooth Muscle	Colon
15	chr14:69214400-69221000	Weak transcription	Right Atrium	heart
16	chr14:69214600-69224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:69214800-69219800	Weak transcription	Fetal Lung	lung
18	chr14:69215400-69217400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:69215600-69216600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:69215600-69217000	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:69215600-69222400	Weak transcription	Pancreas	Pancrea
22	chr14:69215800-69217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:69215800-69221000	Weak transcription	Spleen	Spleen
24	chr14:69215800-69222400	Weak transcription	Right Ventricle	heart
25	chr14:69216000-69216600	Enhancers	HSMMtube	muscle
26	chr14:69216200-69216600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:69216200-69216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:69216200-69216800	Enhancers	Fetal Stomach	stomach
29	chr14:69216200-69217000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:69216200-69217000	Enhancers	Left Ventricle	heart
31	chr14:69216200-69217000	Enhancers	Lung	lung
32	chr14:69216400-69217000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69216400-69217000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:69216400-69217000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:69216400-69217000	Enhancers	Fetal Intestine Small	intestine
36	chr14:69216400-69217000	Enhancers	Fetal Muscle Trunk	muscle
37	chr14:69216400-69219600	Weak transcription	Stomach Mucosa	stomach
38	chr14:69216400-69219800	Weak transcription	Fetal Kidney	kidney
39	chr14:69216600-69224200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:69216800-69218800	Weak transcription	Fetal Stomach	stomach
41	chr14:69217000-69218600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:69217000-69218600	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:69217000-69218600	Weak transcription	Left Ventricle	heart
44	chr14:69217000-69218600	Weak transcription	Lung	lung
45	chr14:69217000-69218800	Weak transcription	Fetal Intestine Small	intestine
46	chr14:69217000-69218800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:69217000-69222600	Weak transcription	Placenta	Placenta
48	chr14:69217200-69218600	Weak transcription	Fetal Heart	heart
49	chr14:69217400-69218800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:69217400-69218800	Weak transcription	K562	blood

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