Variant report

Variant	nsv969207
Chromosome Location	chr5:126232397-126237806
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	chr5:126231811..126233639-chr5:126236642..126239231,2	K562	blood:
2	chr5:126231811..126233639-chr5:126236642..126239231,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf63-4	chr5:126234565-126234958	NONHSAT103602

Extended variants
information (count: 196 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184952871	chr5:126232414-126232415	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545494700	chr5:126232415-126232416	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536171474	chr5:126232533-126232534	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555805045	chr5:126232571-126232572	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577437386	chr5:126232580-126232581	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546477695	chr5:126232649-126232650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564825206	chr5:126232700-126232701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372425760	chr5:126232738-126232739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs70997319	chr5:126232748-126232749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575299755	chr5:126232754-126232755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149664028	chr5:126232788-126232789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6878881	chr5:126232793-126232794	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369929703	chr5:126232800-126232801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538453096	chr5:126232802-126232803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529829377	chr5:126232825-126232826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs57031083	chr5:126232846-126232847	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560318506	chr5:126232860-126232861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532261123	chr5:126232905-126232906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543646377	chr5:126232919-126232920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568854152	chr5:126232920-126232921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537848558	chr5:126232934-126232935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs57113926	chr5:126232938-126232939	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568449004	chr5:126232974-126232975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs58223491	chr5:126233021-126233022	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368667971	chr5:126233026-126233027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61463824	chr5:126233043-126233044	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577374896	chr5:126233048-126233049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs58019558	chr5:126233086-126233087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556891949	chr5:126233126-126233127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576836681	chr5:126233146-126233147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544210357	chr5:126233224-126233225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375838520	chr5:126233249-126233250	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368929256	chr5:126233273-126233274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560883027	chr5:126233329-126233330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34167489	chr5:126233388-126233389	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376978303	chr5:126233413-126233414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs117373811	chr5:126233422-126233423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560049414	chr5:126233446-126233447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572728782	chr5:126233478-126233479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532326477	chr5:126233480-126233481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552002673	chr5:126233481-126233482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140620784	chr5:126233630-126233631	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531536851	chr5:126233644-126233645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189734336	chr5:126233652-126233653	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192652734	chr5:126233656-126233657	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373258665	chr5:126233720-126233721	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113721211	chr5:126233732-126233733	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547857807	chr5:126233734-126233735	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570900933	chr5:126233832-126233833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376992485	chr5:126233833-126233834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126201800-126253400	Weak transcription	A549	lung
2	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
5	chr5:126212000-126236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:126214200-126237400	Weak transcription	Fetal Brain Female	brain
7	chr5:126214200-126238600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:126214200-126238600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:126214200-126245400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:126214600-126245200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:126214600-126250400	Weak transcription	Pancreas	Pancrea
12	chr5:126214800-126255200	Weak transcription	Psoas Muscle	Psoas
13	chr5:126215400-126245000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:126220400-126238400	Weak transcription	Ovary	ovary
15	chr5:126220600-126236000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:126220600-126238400	Weak transcription	Left Ventricle	heart
17	chr5:126220800-126237000	Weak transcription	HSMM	muscle
18	chr5:126220800-126237600	Weak transcription	Right Ventricle	heart
19	chr5:126220800-126245400	Weak transcription	HUVEC	blood vessel
20	chr5:126224000-126238400	Weak transcription	K562	blood
21	chr5:126224400-126234000	Weak transcription	Primary B cells from cord blood	blood
22	chr5:126226600-126237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:126229600-126253600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:126229800-126245800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:126230200-126238200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:126230200-126238400	Weak transcription	Lung	lung
27	chr5:126231200-126254000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:126231400-126245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:126231600-126232400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:126231600-126232400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:126231600-126232400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:126231600-126232600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:126232000-126232400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:126232000-126232400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:126232000-126232400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:126232000-126232400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:126232000-126232400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:126232000-126232400	Enhancers	HepG2	liver
39	chr5:126232000-126232600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:126232000-126232600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:126232000-126232600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:126232000-126233800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:126232200-126232600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:126232200-126232600	Enhancers	Fetal Kidney	kidney
45	chr5:126232200-126236000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:126232400-126237000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:126232400-126237000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:126232400-126237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:126232400-126237200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:126232400-126240000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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