Variant report

Variant	nsv889155
Chromosome Location	chr7:125287479-125392358
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
2	chr7:124699671..124700472-chr7:125310284..125311293,4	MCF-7	breast:
3	chr7:125023517..125024026-chr7:125310752..125311652,2	MCF-7	breast:
4	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:
5	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
6	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
7	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
8	chr7:125391124..125394118-chr7:125397604..125400061,2	K562	blood:
9	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:
10	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
11	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
12	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
13	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:
14	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:
15	chr7:125385605..125387936-chr7:125388625..125390972,2	K562	blood:
16	chr7:125385463..125387105-chr7:125388625..125390168,2	K562	blood:
17	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:
18	chr7:125384743..125387377-chr7:125395816..125398229,2	K562	blood:
19	chr7:125369632..125371193-chr7:125372789..125375510,2	K562	blood:

No data

Extended variants
information (count: 1288 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1288 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2040724	chr7:125287479-125287480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188479775	chr7:125287520-125287521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572025050	chr7:125287539-125287540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34764252	chr7:125287542-125287543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536218746	chr7:125287562-125287563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554547861	chr7:125287567-125287568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576089423	chr7:125287592-125287593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543893256	chr7:125287629-125287630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181387081	chr7:125287634-125287635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577352285	chr7:125287679-125287680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186070519	chr7:125287681-125287682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560056924	chr7:125287710-125287711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567237580	chr7:125287723-125287724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530418861	chr7:125287745-125287746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373288382	chr7:125287765-125287766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542602331	chr7:125287780-125287781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560860542	chr7:125287836-125287837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531257157	chr7:125287879-125287880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531876377	chr7:125287884-125287885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531014571	chr7:125287891-125287892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34885052	chr7:125287913-125287914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571291870	chr7:125287956-125287957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs207468555	chr7:125287975-125287976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190934162	chr7:125287985-125287986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148150497	chr7:125288027-125288028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565592622	chr7:125288028-125288029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536152259	chr7:125288056-125288057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35570938	chr7:125288072-125288073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201946885	chr7:125288073-125288074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34028861	chr7:125288102-125288103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368785300	chr7:125288103-125288104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35584820	chr7:125288105-125288106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6467023	chr7:125288126-125288127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12670153	chr7:125288167-125288168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145419220	chr7:125288209-125288210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573321803	chr7:125288210-125288211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538687380	chr7:125288211-125288212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562157481	chr7:125288212-125288213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76986638	chr7:125288213-125288214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537084765	chr7:125288217-125288218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573586995	chr7:125288225-125288226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62479899	chr7:125288271-125288272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577286165	chr7:125288278-125288279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62479900	chr7:125288279-125288280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73438099	chr7:125288299-125288300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575125246	chr7:125288309-125288310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542540166	chr7:125288344-125288345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182879228	chr7:125288367-125288368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73438101	chr7:125288384-125288385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543069720	chr7:125288414-125288415	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125285200-125288200	Weak transcription	Pancreas	Pancrea
2	chr7:125288200-125288600	Enhancers	Pancreas	Pancrea
3	chr7:125288200-125289400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:125288800-125289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:125289200-125289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:125289400-125292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:125291200-125291400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:125291400-125291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:125291600-125292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:125291800-125292400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:125292000-125292200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:125292000-125292400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:125292000-125292600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:125292600-125293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:125293400-125294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:125294400-125294600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:125299800-125300600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:125299800-125300600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:125299800-125302000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:125299800-125302000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:125300000-125300400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:125300000-125300400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:125300000-125300400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:125300000-125300400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:125300000-125300600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:125300000-125300600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:125300200-125302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:125300200-125302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:125300200-125303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:125300400-125300800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:125300400-125301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:125300400-125303400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:125300400-125303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:125300600-125301400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:125300600-125301600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:125300600-125302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:125300600-125303400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:125300600-125308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:125300800-125301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:125301200-125302000	Enhancers	Primary hematopoietic stem cells	blood
41	chr7:125301400-125301600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:125301400-125302200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:125301600-125302000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:125301600-125303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:125301800-125302000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:125301800-125302200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:125302000-125303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:125302000-125303200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:125302200-125302600	Enhancers	Fetal Kidney	kidney
50	chr7:125302200-125303400	Weak transcription	H1 Cell Line	embryonic stem cell

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