Variant report

Variant	nsv564561
Chromosome Location	chr14:41903514-41947828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:
2	chr14:41931064..41933309-chr14:41934938..41936692,2	MCF-7	breast:
3	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:
4	chr14:41931064..41933309-chr14:41934938..41936692,2	MCF-7	breast:

Extended variants
information (count: 1001 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1001 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1959429	chr14:41903514-41903515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146039445	chr14:41903523-41903524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573383574	chr14:41903524-41903525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118138684	chr14:41903534-41903535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578243231	chr14:41903547-41903548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532916565	chr14:41903571-41903572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544961253	chr14:41903590-41903591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1959428	chr14:41903603-41903604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77755359	chr14:41903685-41903686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549076757	chr14:41903737-41903738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549301238	chr14:41903771-41903772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8016511	chr14:41903776-41903777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528279829	chr14:41903840-41903841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546511738	chr14:41903844-41903845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571689565	chr14:41903848-41903849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28581478	chr14:41903884-41903885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552258738	chr14:41903913-41903914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186202300	chr14:41903914-41903915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568918660	chr14:41903991-41903992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143180911	chr14:41904021-41904022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191884977	chr14:41904026-41904027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573495747	chr14:41904035-41904036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1953709	chr14:41904158-41904159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183320696	chr14:41904231-41904232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145444562	chr14:41904286-41904287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148850745	chr14:41904309-41904310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112436172	chr14:41904310-41904311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530515486	chr14:41904315-41904316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542684031	chr14:41904324-41904325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187960222	chr14:41904417-41904418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142540586	chr14:41904522-41904523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546742952	chr14:41904552-41904553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150955031	chr14:41904630-41904631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532596161	chr14:41904645-41904646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550663021	chr14:41904653-41904654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369643872	chr14:41904654-41904655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190977413	chr14:41904656-41904657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142584051	chr14:41904675-41904676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77612405	chr14:41904702-41904703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59658331	chr14:41904723-41904724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60910046	chr14:41904740-41904741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182474596	chr14:41904744-41904745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10140651	chr14:41904760-41904761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538486996	chr14:41904762-41904763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36037884	chr14:41904781-41904782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186754616	chr14:41904816-41904817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77628565	chr14:41904830-41904831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542622777	chr14:41904848-41904849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572288583	chr14:41904856-41904857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371032113	chr14:41904886-41904887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41902200-41907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:41911200-41911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:41911400-41914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:41914000-41914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:41914000-41914800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:41914000-41915200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:41914000-41916000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41914000-41916600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:41914000-41916600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:41914200-41915200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:41914800-41915600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:41915200-41915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:41915200-41915600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:41915600-41916200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:41915600-41917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:41916600-41918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:41916600-41919000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:41917000-41918400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:41918200-41919000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:41918200-41919400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr14:41918400-41919200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:41918400-41919200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:41918400-41919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:41919000-41919200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:41919000-41919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:41919200-41919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:41919200-41926800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:41919400-41923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:41923600-41923800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:41923800-41924400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:41924400-41925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:41925600-41925800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:41926400-41927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:41927200-41928200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:41928600-41928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:41933400-41934200	Enhancers	Brain Germinal Matrix	brain
37	chr14:41933600-41934000	Enhancers	Fetal Brain Male	brain
38	chr14:41933800-41934400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:41933800-41935000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:41938400-41942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:41942200-41942600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:41942200-41942600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:41942200-41942800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr14:41942200-41942800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr14:41942200-41942800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:41942200-41942800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:41942200-41942800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:41942200-41943000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:41942400-41942600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:41942400-41942800	Enhancers	HUES64 Cell Line	embryonic stem cell

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