Variant report

Variant	nsv889151
Chromosome Location	chr7:125246542-125358505
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125023517..125024026-chr7:125310752..125311652,2	MCF-7	breast:
2	chr7:125241383..125243591-chr7:125245619..125247438,2	K562	blood:
3	chr7:125269070..125270794-chr7:125275616..125278202,2	K562	blood:
4	chr7:125243932..125247685-chr7:125249366..125252787,4	K562	blood:
5	chr7:125266350..125268456-chr7:125268990..125271512,2	K562	blood:
6	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:
7	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
8	chr7:125243932..125247685-chr7:125249366..125252787,4	K562	blood:
9	chr7:125251686..125253446-chr7:125261235..125263882,2	K562	blood:
10	chr7:125271199..125273030-chr7:125279444..125281182,2	K562	blood:
11	chr7:125325822..125328394-chr7:125330208..125331998,2	K562	blood:
12	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:
13	chr7:125204110..125205826-chr7:125284105..125286281,2	K562	blood:
14	chr7:125266350..125268456-chr7:125268990..125271512,2	K562	blood:
15	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
16	chr7:125280203..125282931-chr7:125290069..125292178,2	K562	blood:
17	chr7:125271199..125273030-chr7:125279444..125281182,2	K562	blood:
18	chr7:125310080..125313010-chr7:125315945..125318441,2	K562	blood:
19	chr7:124699671..124700472-chr7:125310284..125311293,4	MCF-7	breast:
20	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
21	chr7:125241383..125243841-chr7:125245305..125247119,2	K562	blood:
22	chr7:125251686..125253446-chr7:125261235..125263882,2	K562	blood:
23	chr7:125338629..125340672-chr7:125343129..125344648,2	K562	blood:
24	chr7:125235978..125238946-chr7:125246634..125248463,2	K562	blood:
25	chr7:125269070..125270794-chr7:125275616..125278202,2	K562	blood:
26	chr7:125298032..125299556-chr7:125301749..125304185,2	K562	blood:

No data

Extended variants
information (count: 1855 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10487420	chr7:125246542-125246543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140537040	chr7:125246550-125246551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543065422	chr7:125246577-125246578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554767578	chr7:125246597-125246598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145625347	chr7:125246610-125246611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138489181	chr7:125246622-125246623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149630548	chr7:125246654-125246655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191279504	chr7:125246701-125246702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115937808	chr7:125246827-125246828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559686861	chr7:125246846-125246847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538399807	chr7:125246913-125246914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143344006	chr7:125246915-125246916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386717540	chr7:125246971-125246972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6970995	chr7:125246973-125246974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148363344	chr7:125247024-125247025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571485694	chr7:125247048-125247049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79798146	chr7:125247080-125247081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554115707	chr7:125247101-125247102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377728990	chr7:125247102-125247103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563080171	chr7:125247113-125247114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34555276	chr7:125247117-125247118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536247305	chr7:125247151-125247152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117087067	chr7:125247176-125247177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576443716	chr7:125247191-125247192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141517148	chr7:125247218-125247219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147387724	chr7:125247250-125247251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577039973	chr7:125247258-125247259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541287899	chr7:125247260-125247261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113945633	chr7:125247264-125247265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559624264	chr7:125247270-125247271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs996866	chr7:125247297-125247298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs113967062	chr7:125247317-125247318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs996867	chr7:125247321-125247322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529426872	chr7:125247376-125247377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547724630	chr7:125247501-125247502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535243786	chr7:125247512-125247513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373116056	chr7:125247513-125247514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185984637	chr7:125247515-125247516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549861065	chr7:125247606-125247607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556898075	chr7:125247620-125247621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4731255	chr7:125247638-125247639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35056397	chr7:125247683-125247684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578220410	chr7:125247685-125247686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371922818	chr7:125247721-125247722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565970223	chr7:125247735-125247736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374928265	chr7:125247793-125247794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368005175	chr7:125247795-125247796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143292724	chr7:125247796-125247797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536582380	chr7:125247814-125247815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111765852	chr7:125247863-125247864	Weak transcription	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125245800-125249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:125249800-125250600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125252800-125253400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:125253400-125258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:125258200-125258400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:125258400-125259000	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:125258600-125258800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:125258600-125259000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:125259000-125259600	Weak transcription	Pancreas	Pancrea
10	chr7:125261000-125263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:125262400-125262800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:125262600-125263200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:125262800-125263200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:125262800-125263200	Active TSS	HMEC	breast
15	chr7:125263200-125263400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:125263200-125263400	Enhancers	HMEC	breast
17	chr7:125263200-125264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:125268200-125269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:125285200-125288200	Weak transcription	Pancreas	Pancrea
20	chr7:125288200-125288600	Enhancers	Pancreas	Pancrea
21	chr7:125288200-125289400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:125288800-125289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:125289200-125289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:125289400-125292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:125291200-125291400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:125291400-125291600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:125291600-125292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:125291800-125292400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:125292000-125292200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:125292000-125292400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:125292000-125292600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:125292600-125293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:125293400-125294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:125294400-125294600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:125299800-125300600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:125299800-125300600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:125299800-125302000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:125299800-125302000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:125300000-125300400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:125300000-125300400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:125300000-125300400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:125300000-125300400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:125300000-125300600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:125300000-125300600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:125300200-125302600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr7:125300200-125302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:125300200-125303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:125300400-125300800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:125300400-125301600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:125300400-125303400	Weak transcription	H9 Cell Line	embryonic stem cell

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