Variant report

Variant	nsv889116
Chromosome Location	chr7:120098304-120180671
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120031308..120032856-chr7:120160102..120161912,2	K562	blood:
2	chr7:120180481..120182755-chr7:120186215..120188744,2	K562	blood:
3	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
4	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
5	chr2:154750769..154751442-chr7:120117250..120118079,2	MCF-7	breast:
6	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
7	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
8	chr7:120154322..120156869-chr7:120164089..120165896,2	K562	blood:
9	chr7:120169390..120172327-chr7:120172901..120174536,2	MCF-7	breast:
10	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
11	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
12	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
13	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
14	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
15	chr7:120102029..120102882-chr7:120365430..120366363,2	K562	blood:
16	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
17	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
18	chr7:120134846..120137159-chr7:120137881..120139817,2	K562	blood:
19	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:
20	chr7:120173889..120175892-chr7:120179187..120180954,2	K562	blood:
21	chr7:120144217..120146457-chr7:120151429..120153317,2	K562	blood:
22	chr7:120127187..120129760-chr7:120143194..120145988,2	K562	blood:

No data

Extended variants
information (count: 2822 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2822 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7809257	chr7:120098304-120098305	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537620607	chr7:120098321-120098322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564402602	chr7:120098325-120098326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533465412	chr7:120098351-120098352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550086381	chr7:120098363-120098364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569702278	chr7:120098373-120098374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149559969	chr7:120098415-120098416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144290014	chr7:120098421-120098422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549456163	chr7:120098426-120098427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578018152	chr7:120098607-120098608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550907977	chr7:120098626-120098627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566045043	chr7:120098681-120098682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567907814	chr7:120098736-120098737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113270707	chr7:120098859-120098860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185946965	chr7:120098895-120098896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561710301	chr7:120098898-120098899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539729719	chr7:120098917-120098918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73435836	chr7:120098965-120098966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141532342	chr7:120098970-120098971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146351677	chr7:120099005-120099006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538919345	chr7:120099109-120099110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528851651	chr7:120099119-120099120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191917254	chr7:120099147-120099148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139672834	chr7:120099166-120099167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372811468	chr7:120099190-120099191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572941041	chr7:120099296-120099297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144559569	chr7:120099301-120099302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538731576	chr7:120099323-120099324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182504400	chr7:120099324-120099325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529242955	chr7:120099334-120099335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549120405	chr7:120099381-120099382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539850662	chr7:120099399-120099400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10953916	chr7:120099413-120099414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113774134	chr7:120099419-120099420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78674105	chr7:120099431-120099432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146696269	chr7:120099486-120099487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551933578	chr7:120099487-120099488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146633825	chr7:120099492-120099493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539691121	chr7:120099532-120099533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10953917	chr7:120099545-120099546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569860012	chr7:120099559-120099560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535393569	chr7:120099574-120099575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555088531	chr7:120099588-120099589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573833773	chr7:120099596-120099597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572031993	chr7:120099617-120099618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542992743	chr7:120099714-120099715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139468061	chr7:120099716-120099717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10488297	chr7:120099738-120099739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557473914	chr7:120099750-120099751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561236712	chr7:120099765-120099766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
small cell lung cancer	20016488	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120092000-120101200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:120097200-120099200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:120097400-120099200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:120098000-120098600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr7:120098000-120098600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:120098000-120099200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:120098000-120101200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:120098600-120100000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:120098600-120100200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:120099200-120099400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:120099200-120099400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:120099200-120101800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:120099200-120101800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:120099400-120100200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:120099400-120102000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:120099800-120100000	Enhancers	GM12878-XiMat	blood
17	chr7:120099800-120100400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:120100000-120100200	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:120100000-120101600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:120100200-120100400	Enhancers	GM12878-XiMat	blood
21	chr7:120100200-120101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:120100200-120101800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:120100400-120100600	Flanking Active TSS	GM12878-XiMat	blood
24	chr7:120100400-120101600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:120100400-120102400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:120100600-120101000	Active TSS	GM12878-XiMat	blood
27	chr7:120100800-120101800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:120101000-120101200	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:120101000-120101400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:120101200-120101400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:120101200-120101600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr7:120101200-120101600	Enhancers	GM12878-XiMat	blood
33	chr7:120101800-120117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:120102400-120103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:120102800-120103800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:120102800-120104000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:120103000-120104400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:120103800-120108600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:120103800-120122400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:120104000-120104600	Enhancers	Brain Germinal Matrix	brain
41	chr7:120104600-120105000	ZNF genes & repeats	GM12878-XiMat	blood
42	chr7:120105000-120112600	Weak transcription	GM12878-XiMat	blood
43	chr7:120108400-120109800	Enhancers	Fetal Brain Male	brain
44	chr7:120108600-120109000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:120112400-120120000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:120112600-120112800	Active TSS	GM12878-XiMat	blood
47	chr7:120112800-120113200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr7:120113200-120113400	Genic enhancers	GM12878-XiMat	blood
49	chr7:120113400-120116800	Enhancers	GM12878-XiMat	blood
50	chr7:120115600-120115800	Enhancers	HUES48 Cell Line	embryonic stem cell

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