Variant report

Variant	nsv965607
Chromosome Location	chr5:112177487-112179767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
2	chr5:112176097..112178949-chr5:112179046..112180658,2	MCF-7	breast:
3	chr5:112176097..112178949-chr5:112179046..112180658,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554370603	chr5:112177536-112177537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374625279	chr5:112177540-112177541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368356944	chr5:112177564-112177565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548566231	chr5:112177567-112177568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370948574	chr5:112177657-112177658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371097044	chr5:112177664-112177665	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374310157	chr5:112177678-112177679	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138571760	chr5:112177801-112177802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370781162	chr5:112177813-112177814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200151646	chr5:112177816-112177817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183468041	chr5:112177817-112177818	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571373542	chr5:112177823-112177824	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376096304	chr5:112177826-112177827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146695342	chr5:112177851-112177852	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553815910	chr5:112177864-112177865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149328018	chr5:112177900-112177901	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200682225	chr5:112177925-112177926	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186926737	chr5:112177928-112177929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs35540155	chr5:112177930-112177931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374464049	chr5:112177949-112177950	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367761032	chr5:112177956-112177957	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372680843	chr5:112177960-112177961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374597207	chr5:112177961-112177962	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs367905430	chr5:112177970-112177971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs199648202	chr5:112177973-112177974	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534228737	chr5:112177982-112177983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201375478	chr5:112178015-112178016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555799753	chr5:112178041-112178042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574050786	chr5:112178046-112178047	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376494248	chr5:112178073-112178074	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375894927	chr5:112178087-112178088	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs34919187	chr5:112178112-112178113	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200468360	chr5:112178142-112178143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200587641	chr5:112178148-112178149	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148878262	chr5:112178164-112178165	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs202012533	chr5:112178191-112178192	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs544549596	chr5:112178198-112178199	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2229993	chr5:112178212-112178213	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs202144406	chr5:112178239-112178240	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560565848	chr5:112178241-112178242	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531178000	chr5:112178268-112178269	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146048493	chr5:112178276-112178277	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571304880	chr5:112178303-112178304	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs200756935	chr5:112178327-112178328	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75207119	chr5:112178340-112178341	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78556145	chr5:112178341-112178342	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35817266	chr5:112178343-112178344	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532244792	chr5:112178366-112178367	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561394771	chr5:112178389-112178390	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547564330	chr5:112178394-112178395	Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	21518781	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	20668451	CNVD
adenomatous polyposis	20649969	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	22014273	CNVD
Colorectal cancer	23471846	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112150200-112177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:112152000-112183800	Weak transcription	Gastric	stomach
6	chr5:112153200-112179400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112153200-112179800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:112154400-112179400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:112154600-112177800	Strong transcription	Primary T cells from cord blood	blood
10	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
11	chr5:112156200-112179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
14	chr5:112167800-112178000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:112168400-112178400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:112168400-112179000	Strong transcription	Fetal Muscle Leg	muscle
17	chr5:112171600-112179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:112172400-112180000	Strong transcription	Fetal Brain Female	brain
19	chr5:112172600-112177800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:112172600-112179800	Strong transcription	HSMM	muscle
21	chr5:112172800-112178200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr5:112172800-112179000	Strong transcription	Brain Germinal Matrix	brain
23	chr5:112173200-112177600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr5:112173200-112179200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:112174000-112182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:112174000-112182400	Weak transcription	Esophagus	oesophagus
27	chr5:112174000-112183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:112174200-112181200	Weak transcription	Spleen	Spleen
29	chr5:112174200-112183800	Weak transcription	Hela-S3	cervix
30	chr5:112174400-112182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:112174400-112183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:112174600-112178600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:112174600-112183800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:112174600-112184200	Weak transcription	Ovary	ovary
35	chr5:112174800-112179600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:112174800-112183800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:112174800-112183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:112174800-112183800	Weak transcription	NHEK	skin
39	chr5:112175000-112179000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr5:112175200-112178400	Weak transcription	HMEC	breast
41	chr5:112175200-112183800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:112175400-112178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:112175400-112183800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:112175400-112187600	Weak transcription	NHLF	lung
45	chr5:112175600-112178000	Weak transcription	Fetal Brain Male	brain
46	chr5:112175600-112180200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:112175600-112182200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:112175600-112183800	Weak transcription	Psoas Muscle	Psoas
49	chr5:112175600-112183800	Weak transcription	GM12878-XiMat	blood
50	chr5:112175600-112184000	Weak transcription	Colon Smooth Muscle	Colon

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