Variant report

Variant	nsv1037655
Chromosome Location	chr14:47827437-47879207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:47825822..47827429-chr14:47839476..47841080,2	K562	blood:

Extended variants
information (count: 1582 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574769609	chr14:47827494-47827495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552300683	chr14:47827523-47827524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369826510	chr14:47827591-47827592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538009049	chr14:47827608-47827609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111455954	chr14:47827626-47827627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377178954	chr14:47827628-47827629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568633693	chr14:47827629-47827630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377661652	chr14:47827631-47827632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534538366	chr14:47827635-47827636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77964302	chr14:47827636-47827637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189641167	chr14:47827681-47827682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373915874	chr14:47827709-47827710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558642590	chr14:47827757-47827758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148384923	chr14:47827758-47827759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544392732	chr14:47827789-47827790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561164187	chr14:47827832-47827833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529929635	chr14:47827840-47827841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540563122	chr14:47827863-47827864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560284787	chr14:47827879-47827880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532326099	chr14:47827954-47827955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552163582	chr14:47828076-47828077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568978161	chr14:47828088-47828089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531716399	chr14:47828096-47828097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548475473	chr14:47828109-47828110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527345298	chr14:47828162-47828163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373193028	chr14:47828185-47828186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143292015	chr14:47828208-47828209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534219885	chr14:47828233-47828234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554397020	chr14:47828234-47828235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377248858	chr14:47828261-47828262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538601953	chr14:47828298-47828299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558607658	chr14:47828301-47828302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35406468	chr14:47828302-47828303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544328144	chr14:47828303-47828304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535702415	chr14:47828340-47828341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554457397	chr14:47828344-47828345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574622713	chr14:47828353-47828354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138487724	chr14:47828375-47828376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560354966	chr14:47828400-47828401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576742743	chr14:47828432-47828433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545766465	chr14:47828472-47828473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562574479	chr14:47828479-47828480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531678742	chr14:47828481-47828482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548709025	chr14:47828482-47828483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562042966	chr14:47828511-47828512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527842216	chr14:47828515-47828516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541700228	chr14:47828518-47828519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542291171	chr14:47828519-47828520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111296384	chr14:47828522-47828523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143948718	chr14:47828542-47828543	Weak transcription	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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastric cancer	18160780	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47819200-47834400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:47826600-47828000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:47826800-47827600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr14:47826800-47828000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:47826800-47834600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:47827000-47827600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:47827000-47827600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:47827000-47827600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:47827000-47828000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:47827200-47827600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:47834000-47834200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:47834000-47834800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:47834000-47835400	Enhancers	Brain Anterior Caudate	brain
14	chr14:47834000-47835400	Enhancers	Brain Hippocampus Middle	brain
15	chr14:47834000-47835600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:47834000-47835600	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:47834200-47834600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr14:47834200-47835200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:47834200-47835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:47834200-47835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:47834200-47835800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:47834200-47835800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:47834200-47835800	Enhancers	Brain Substantia Nigra	brain
24	chr14:47834200-47836400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:47834200-47836400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:47834400-47834600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:47834400-47834800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:47834400-47834800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:47834400-47835000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:47834400-47835000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:47834400-47835400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:47834400-47835600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:47834600-47835400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:47834600-47835600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:47834600-47835800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:47834800-47835800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:47835000-47835600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:47835600-47835800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:47835800-47836200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:47835800-47839400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:47835800-47841200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:47839400-47839600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:47839600-47840000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:47840000-47840800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:47840800-47849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:47841200-47841600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:47845000-47845200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:47849400-47852000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:47852000-47852200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr14:47852000-47852200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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