Variant report

Variant	nsv1030128
Chromosome Location	chr7:103489028-103517045
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	chr7:103506208..103509003-chr7:103526109..103528413,2	K562	blood:
2	chr7:103510872..103513089-chr7:103514566..103516853,2	K562	blood:
3	chr7:103483125..103487990-chr7:103488030..103491308,6	K562	blood:
4	chr7:103496481..103498750-chr7:103510746..103512273,2	K562	blood:
5	chr7:103496481..103498750-chr7:103510746..103512273,2	K562	blood:
6	chr7:103487611..103490100-chr7:103622527..103624433,2	K562	blood:
7	chr7:103501321..103503199-chr7:103503992..103506371,2	K562	blood:
8	chr17:57149242..57149757-chr7:103504514..103505180,2	MCF-7	breast:
9	chr7:103491384..103494332-chr7:103503727..103505342,2	K562	blood:
10	chr7:103500765..103502800-chr7:103508412..103510448,2	K562	blood:
11	chr7:103507537..103509850-chr7:103630768..103632439,2	K562	blood:
12	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
13	chr7:103491384..103494332-chr7:103503727..103505342,2	K562	blood:
14	chr7:103510872..103513089-chr7:103514566..103516853,2	K562	blood:
15	chr7:103507537..103509720-chr7:103630698..103632268,2	K562	blood:
16	chr7:103514830..103517778-chr7:103519568..103522214,2	K562	blood:
17	chr7:103484299..103485806-chr7:103503247..103505483,2	K562	blood:
18	chr7:103501321..103503199-chr7:103503992..103506371,2	K562	blood:
19	chr7:103500765..103502800-chr7:103508412..103510448,2	K562	blood:

No data

Extended variants
information (count: 1184 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10262803	chr7:103489028-103489029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530718724	chr7:103489042-103489043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10233074	chr7:103489054-103489055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs369681431	chr7:103489095-103489096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183207544	chr7:103489110-103489111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577248964	chr7:103489133-103489134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187946592	chr7:103489155-103489156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568160136	chr7:103489175-103489176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530360426	chr7:103489224-103489225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544416625	chr7:103489260-103489261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs39394	chr7:103489320-103489321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538909113	chr7:103489334-103489335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570201203	chr7:103489345-103489346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537357708	chr7:103489370-103489371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559186532	chr7:103489408-103489409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10266261	chr7:103489447-103489448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147033999	chr7:103489490-103489491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553090528	chr7:103489549-103489550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28628152	chr7:103489590-103489591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28417410	chr7:103489599-103489600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556898737	chr7:103489611-103489612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28677124	chr7:103489624-103489625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528440252	chr7:103489640-103489641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192001649	chr7:103489655-103489656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545814779	chr7:103489656-103489657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370290952	chr7:103489715-103489716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377760396	chr7:103489719-103489720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564385666	chr7:103489721-103489722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374420882	chr7:103489728-103489729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs39395	chr7:103489729-103489730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs148169812	chr7:103489732-103489733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574351708	chr7:103489738-103489739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199765444	chr7:103489760-103489761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35465021	chr7:103489761-103489762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398047920	chr7:103489767-103489768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532716386	chr7:103489803-103489804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185428394	chr7:103489873-103489874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs39396	chr7:103489875-103489876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550658636	chr7:103489879-103489880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187856128	chr7:103489908-103489909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569471811	chr7:103489919-103489920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs39397	chr7:103489929-103489930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141975263	chr7:103489941-103489942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs39398	chr7:103489942-103489943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534945254	chr7:103489962-103489963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs39399	chr7:103489992-103489993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs568085782	chr7:103489993-103489994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562689407	chr7:103490000-103490001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192962061	chr7:103490030-103490031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59485564	chr7:103490046-103490047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103473200-103495200	Weak transcription	HepG2	liver
2	chr7:103486000-103497800	Weak transcription	K562	blood
3	chr7:103495200-103496200	Strong transcription	HepG2	liver
4	chr7:103495600-103496000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:103496000-103496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:103496200-103497600	Weak transcription	HepG2	liver
7	chr7:103496400-103496600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:103496400-103496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:103496600-103496800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:103496600-103497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:103496600-103498200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:103496800-103497000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:103496800-103497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:103496800-103497800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:103497000-103498000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:103497200-103498200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:103497200-103498400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:103497400-103498400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:103497400-103498400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:103497400-103498400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:103497400-103498400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:103497600-103498200	Strong transcription	HepG2	liver
23	chr7:103497800-103498000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:103497800-103498000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:103497800-103498200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr7:103497800-103498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:103497800-103498200	Enhancers	Brain Germinal Matrix	brain
28	chr7:103497800-103498200	Enhancers	K562	blood
29	chr7:103498000-103498200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:103498000-103501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:103498200-103507200	Weak transcription	HepG2	liver
32	chr7:103498200-103519800	Weak transcription	K562	blood
33	chr7:103501800-103502000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:103504800-103505000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:103505000-103507000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:103507000-103508000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr7:103507200-103507600	Enhancers	Liver	Liver
38	chr7:103507200-103507600	Enhancers	Fetal Kidney	kidney
39	chr7:103507200-103508800	Enhancers	HepG2	liver
40	chr7:103508800-103519400	Weak transcription	HepG2	liver
41	chr7:103516000-103516800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links