Variant report

Variant	nsv882236
Chromosome Location	chr5:80930992-80999768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80931139..80933943-chr5:80935605..80937292,2	K562	blood:
2	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
3	chr5:80965614..80968004-chr5:80970828..80973570,3	K562	blood:
4	chr5:80959308..80961024-chr5:81090290..81092398,2	K562	blood:
5	chr5:80996121..80997838-chr5:81001876..81003774,2	K562	blood:
6	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
7	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:
8	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
9	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:
10	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:
11	chr5:80931196..80933943-chr5:80935625..80937292,2	K562	blood:
12	chr5:80970290..80973257-chr5:80975148..80979422,4	K562	blood:
13	chr5:80998159..81001011-chr5:81003180..81006000,3	K562	blood:
14	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:
15	chr5:80997712..81001011-chr5:81003942..81006000,3	K562	blood:
16	chr5:80937480..80940256-chr5:80940937..80944282,3	K562	blood:
17	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:
18	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
19	chr5:80940231..80942233-chr5:81040176..81042074,2	K562	blood:
20	chr5:80971757..80974379-chr5:80975193..80977880,3	K562	blood:
21	chr5:80991735..80993822-chr5:80998688..81000196,2	K562	blood:
22	chr5:80931139..80933943-chr5:80935605..80937292,2	K562	blood:
23	chr5:80987236..80988906-chr5:80991479..80993705,2	K562	blood:
24	chr5:80934108..80935930-chr5:80938567..80940586,2	K562	blood:
25	chr5:80931196..80933943-chr5:80935625..80937292,2	K562	blood:
26	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:
27	chr5:80991735..80994087-chr5:80998688..81001325,2	K562	blood:
28	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:
29	chr5:80961632..80964415-chr5:80970591..80972149,2	MCF-7	breast:
30	chr5:80965614..80968004-chr5:80970828..80973570,3	K562	blood:
31	chr5:80934108..80935930-chr5:80938567..80940586,2	K562	blood:
32	chr5:80937480..80940256-chr5:80940937..80944282,3	K562	blood:
33	chr5:80961632..80964415-chr5:80970591..80972149,2	MCF-7	breast:

No data

Extended variants
information (count: 2288 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs413472	chr5:80930992-80930993	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187597444	chr5:80931033-80931034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148510179	chr5:80931034-80931035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566779886	chr5:80931038-80931039	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74271582	chr5:80931051-80931052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544012778	chr5:80931090-80931091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559220982	chr5:80931106-80931107	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543744515	chr5:80931125-80931126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142761777	chr5:80931335-80931336	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146098525	chr5:80931352-80931353	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560049785	chr5:80931368-80931369	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193212440	chr5:80931376-80931377	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527288848	chr5:80931385-80931386	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528884759	chr5:80931400-80931401	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397882855	chr5:80931401-80931402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542650448	chr5:80931472-80931473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560634387	chr5:80931477-80931478	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374770277	chr5:80931496-80931497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549538341	chr5:80931591-80931592	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540198761	chr5:80931628-80931629	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571126565	chr5:80931649-80931650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532394069	chr5:80931650-80931651	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547377915	chr5:80931660-80931661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566011215	chr5:80931683-80931684	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555906404	chr5:80931685-80931686	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569608765	chr5:80931872-80931873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58940374	chr5:80931909-80931910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555034412	chr5:80931924-80931925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570141022	chr5:80932009-80932010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185710452	chr5:80932048-80932049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112098424	chr5:80932055-80932056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181629235	chr5:80932070-80932071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372841204	chr5:80932102-80932103	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375952734	chr5:80932116-80932117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78398578	chr5:80932129-80932130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113253032	chr5:80932164-80932165	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575114189	chr5:80932178-80932179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542237343	chr5:80932262-80932263	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376657084	chr5:80932306-80932307	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369643892	chr5:80932307-80932308	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183923163	chr5:80932309-80932310	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111947628	chr5:80932313-80932314	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558298828	chr5:80932351-80932352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200596663	chr5:80932390-80932391	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373582953	chr5:80932462-80932463	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200022221	chr5:80932465-80932466	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547609715	chr5:80932492-80932493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559368436	chr5:80932495-80932496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530027610	chr5:80932540-80932541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564038913	chr5:80932625-80932626	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
6	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
7	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
8	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
14	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
15	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
18	chr5:80922600-80933600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:80922800-80934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
24	chr5:80923200-80934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:80923200-80934400	Weak transcription	NHDF-Ad	bronchial
26	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:80923200-80948400	Weak transcription	K562	blood
29	chr5:80923400-80934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:80923400-80934600	Weak transcription	NHLF	lung
31	chr5:80923400-80934600	Weak transcription	Osteobl	bone
32	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
33	chr5:80923600-80933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:80923800-80932800	Weak transcription	Psoas Muscle	Psoas
35	chr5:80923800-80936000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:80924200-80962800	Weak transcription	Ovary	ovary
37	chr5:80924600-80934600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
41	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
42	chr5:80926600-80931800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:80926800-80934600	Weak transcription	HSMMtube	muscle
44	chr5:80927400-80934400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:80927800-80933400	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:80927800-80934800	Weak transcription	HSMM	muscle
47	chr5:80928200-80933000	Enhancers	Thymus	Thymus
48	chr5:80928200-80933400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr5:80928600-80943600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:80928800-80935000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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