Variant report

Variant	nsv889122
Chromosome Location	chr7:120860912-120906744
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120849619..120853631-chr7:120859182..120861121,3	K562	blood:
2	chr7:120870734..120873223-chr7:120882275..120885118,2	K562	blood:
3	chr7:120854329..120856810-chr7:120876127..120877752,2	K562	blood:
4	chr7:120867657..120869346-chr7:120882060..120884535,2	K562	blood:
5	chr7:120892571..120894403-chr7:120897763..120901002,3	K562	blood:
6	chr7:120878568..120880747-chr7:120916933..120919501,2	K562	blood:
7	chr7:120896920..120899845-chr7:120902784..120905694,5	K562	blood:
8	chr7:120892571..120895698-chr7:120897763..120899979,3	K562	blood:
9	chr7:120879517..120881994-chr7:120882337..120885417,3	K562	blood:
10	chr7:120879517..120881082-chr7:120883141..120886021,2	K562	blood:
11	chr7:120858530..120860172-chr7:120865997..120868025,2	K562	blood:
12	chr7:120903478..120907349-chr7:120909613..120913573,4	K562	blood:
13	chr7:120892571..120895698-chr7:120897763..120899979,3	K562	blood:
14	chr7:120868481..120870338-chr7:120872297..120875239,2	K562	blood:
15	chr7:120896920..120901012-chr7:120903839..120905762,5	K562	blood:
16	chr7:120865025..120867701-chr7:120877950..120880426,2	K562	blood:
17	chr7:120879517..120881994-chr7:120882337..120885417,3	K562	blood:
18	chr7:120836283..120838682-chr7:120872699..120875576,2	K562	blood:
19	chr7:120873011..120874844-chr7:120878339..120881386,3	K562	blood:
20	chr7:120865059..120868027-chr7:120873539..120876045,2	K562	blood:
21	chr7:120879517..120881082-chr7:120883141..120886021,2	K562	blood:
22	chr7:120848400..120850146-chr7:120867197..120869985,2	K562	blood:
23	chr7:120873011..120874844-chr7:120878339..120881386,3	K562	blood:
24	chr7:120893787..120895998-chr7:120923487..120924993,2	K562	blood:
25	chr7:120892571..120894403-chr7:120897763..120901002,3	K562	blood:
26	chr7:120868481..120870338-chr7:120872297..120875239,2	K562	blood:
27	chr7:120865025..120867701-chr7:120877950..120880426,2	K562	blood:
28	chr7:120867657..120869346-chr7:120882060..120884535,2	K562	blood:
29	chr7:120865059..120868027-chr7:120873539..120876045,2	K562	blood:
30	chr7:120902142..120904309-chr7:120913749..120915446,2	K562	blood:
31	chr7:120896920..120901012-chr7:120903839..120905762,5	K562	blood:
32	chr7:120856242..120858668-chr7:120894112..120895725,2	K562	blood:
33	chr7:120870734..120873223-chr7:120882275..120885118,2	K562	blood:
34	chr7:120855438..120857964-chr7:120860983..120863737,2	K562	blood:
35	chr7:120896920..120899845-chr7:120902784..120905694,5	K562	blood:

No data

Extended variants
information (count: 1655 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545871077	chr7:120860938-120860939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562664089	chr7:120860941-120860942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535142421	chr7:120860946-120860947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142372653	chr7:120860955-120860956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372076946	chr7:120860967-120860968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565073571	chr7:120861013-120861014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112215085	chr7:120861028-120861029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548300780	chr7:120861035-120861036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567507034	chr7:120861044-120861045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116331984	chr7:120861075-120861076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555549297	chr7:120861106-120861107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546914218	chr7:120861141-120861142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9692173	chr7:120861169-120861170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538867597	chr7:120861172-120861173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145929177	chr7:120861181-120861182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116214532	chr7:120861182-120861183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537800643	chr7:120861184-120861185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554263115	chr7:120861191-120861192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574411630	chr7:120861279-120861280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540551735	chr7:120861314-120861315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554071688	chr7:120861344-120861345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74649631	chr7:120861345-120861346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538890285	chr7:120861363-120861364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576994690	chr7:120861394-120861395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546002283	chr7:120861445-120861446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62469352	chr7:120861505-120861506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562601257	chr7:120861520-120861521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531716061	chr7:120861541-120861542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62469353	chr7:120861548-120861549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542357414	chr7:120861571-120861572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369617572	chr7:120861588-120861589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372360404	chr7:120861615-120861616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189102267	chr7:120861629-120861630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376643726	chr7:120861737-120861738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369085849	chr7:120861763-120861764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527720664	chr7:120861802-120861803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528435104	chr7:120861835-120861836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546897278	chr7:120861866-120861867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560471786	chr7:120861893-120861894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532313386	chr7:120861926-120861927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552411624	chr7:120861931-120861932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569078584	chr7:120861992-120861993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193008760	chr7:120862013-120862014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111519039	chr7:120862022-120862023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553761178	chr7:120862113-120862114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535216004	chr7:120862134-120862135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567939186	chr7:120862186-120862187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184036398	chr7:120862247-120862248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186952160	chr7:120862266-120862267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577127934	chr7:120862271-120862272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120819200-120861000	Strong transcription	K562	blood
2	chr7:120823600-120874800	Weak transcription	NHLF	lung
3	chr7:120842600-120877600	Weak transcription	Aorta	Aorta
4	chr7:120844200-120877200	Weak transcription	Liver	Liver
5	chr7:120844800-120881600	Weak transcription	HSMMtube	muscle
6	chr7:120851800-120877600	Weak transcription	Left Ventricle	heart
7	chr7:120857600-120866400	Weak transcription	HSMM	muscle
8	chr7:120861000-120866400	Weak transcription	K562	blood
9	chr7:120863000-120884200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:120863800-120877600	Weak transcription	Ovary	ovary
11	chr7:120864000-120872200	Weak transcription	Psoas Muscle	Psoas
12	chr7:120866000-120870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:120866400-120872600	Strong transcription	HSMM	muscle
14	chr7:120866400-120882600	Strong transcription	K562	blood
15	chr7:120868600-120887600	Weak transcription	Right Ventricle	heart
16	chr7:120870000-120871200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:120870200-120870800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:120870200-120870800	Enhancers	Osteobl	bone
19	chr7:120870200-120871000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:120870200-120871200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:120870600-120871000	Enhancers	Dnd41	blood
22	chr7:120870800-120874600	Weak transcription	Osteobl	bone
23	chr7:120870800-120877200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:120871000-120874600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:120871200-120874600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:120871200-120877400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:120872200-120872600	Enhancers	Psoas Muscle	Psoas
28	chr7:120872600-120875400	Weak transcription	HSMM	muscle
29	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
30	chr7:120873400-120873600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:120873400-120888800	Weak transcription	Fetal Heart	heart
32	chr7:120873600-120874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:120874400-120876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:120874400-120877200	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:120874600-120874800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:120874600-120875600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:120874600-120875600	Enhancers	Osteobl	bone
38	chr7:120874600-120876000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:120874600-120876200	Enhancers	NHDF-Ad	bronchial
40	chr7:120874600-120876400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:120874800-120875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:120874800-120876000	Enhancers	NHLF	lung
43	chr7:120874800-120884200	Weak transcription	Fetal Stomach	stomach
44	chr7:120875000-120875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:120875200-120877000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:120875400-120876000	Enhancers	HSMM	muscle
47	chr7:120875400-120876200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:120875400-120877400	Weak transcription	Adipose Nuclei	Adipose
49	chr7:120875600-120880200	Weak transcription	Osteobl	bone
50	chr7:120875800-120877600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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