Variant report

Variant	nsv599675
Chromosome Location	chr5:127409158-127410767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
2	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
3	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:
4	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
5	chr5:127408566..127411442-chr5:127412168..127414357,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7705595	chr5:127409159-127409160	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7705334	chr5:127409191-127409192	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556102056	chr5:127409242-127409243	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77272829	chr5:127409337-127409338	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111316185	chr5:127409444-127409445	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575879214	chr5:127409494-127409495	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182858590	chr5:127409510-127409511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145139517	chr5:127409588-127409589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527587770	chr5:127409819-127409820	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541188151	chr5:127409998-127409999	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373979132	chr5:127410057-127410058	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572931407	chr5:127410103-127410104	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535222747	chr5:127410104-127410105	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188497405	chr5:127410234-127410235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72792292	chr5:127410235-127410236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376420714	chr5:127410237-127410238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368766654	chr5:127410242-127410243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563687570	chr5:127410423-127410424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11749028	chr5:127410465-127410466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192909227	chr5:127410478-127410479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11949446	chr5:127410505-127410506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534998761	chr5:127410525-127410526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377631275	chr5:127410534-127410535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551922334	chr5:127410690-127410691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369895385	chr5:127410705-127410706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548294786	chr5:127410733-127410734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76208917	chr5:127410745-127410746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
3	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:127376400-127414400	Weak transcription	Dnd41	blood
7	chr5:127377200-127414200	Weak transcription	K562	blood
8	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
9	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:127386400-127414400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
16	chr5:127389200-127414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:127389400-127414600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
19	chr5:127389800-127416200	Weak transcription	Thymus	Thymus
20	chr5:127390200-127415400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
22	chr5:127390400-127414200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:127390400-127416600	Weak transcription	Fetal Stomach	stomach
24	chr5:127390600-127415000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:127391200-127414400	Weak transcription	A549	lung
27	chr5:127391400-127414800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:127391400-127416600	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:127391800-127409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:127392200-127414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:127394200-127418000	Weak transcription	Lung	lung
32	chr5:127394600-127416800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:127396000-127417000	Weak transcription	Ovary	ovary
34	chr5:127396200-127416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:127396400-127413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:127396400-127414400	Weak transcription	Primary T cells from cord blood	blood
37	chr5:127398200-127416200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:127398400-127414400	Weak transcription	NHDF-Ad	bronchial
39	chr5:127398400-127414600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:127398400-127415800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:127398400-127416200	Weak transcription	HSMMtube	muscle
42	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:127398600-127414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:127398600-127416600	Weak transcription	Osteobl	bone
45	chr5:127399000-127412400	Weak transcription	HMEC	breast
46	chr5:127399000-127413000	Weak transcription	Small Intestine	intestine
47	chr5:127399000-127414400	Weak transcription	Brain Angular Gyrus	brain
48	chr5:127399000-127414400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:127399000-127415600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:127399000-127417400	Weak transcription	HSMM	muscle

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