Variant report

Variant	nsv539048
Chromosome Location	chr7:103396911-103443565
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	chr7:103442619..103446141-chr7:103451934..103454148,3	K562	blood:
2	chr7:103432622..103435119-chr7:103435202..103437569,2	K562	blood:
3	chr7:103402987..103404682-chr7:103406526..103408978,2	K562	blood:
4	chr7:103253081..103256166-chr7:103404446..103406601,3	K562	blood:
5	chr7:103402987..103404682-chr7:103406526..103408978,2	K562	blood:
6	chr7:103400451..103402687-chr7:103404138..103407117,2	MCF-7	breast:
7	chr7:103410814..103414279-chr7:103419372..103422608,3	K562	blood:
8	chr7:103404584..103406176-chr7:103410520..103412524,2	K562	blood:
9	chr7:103422935..103424556-chr7:103443024..103444916,2	K562	blood:
10	chr7:103403884..103405527-chr7:103424652..103427237,2	K562	blood:
11	chr7:103423396..103425978-chr7:103435870..103438560,2	K562	blood:
12	chr7:103417666..103419702-chr7:103422926..103424579,2	K562	blood:
13	chr7:103419863..103421657-chr7:103433485..103435667,2	K562	blood:
14	chr7:103410814..103414279-chr7:103419372..103422608,3	K562	blood:
15	chr7:103416823..103418465-chr7:103442836..103444538,2	K562	blood:
16	chr7:103403884..103405527-chr7:103424652..103427237,2	K562	blood:
17	chr7:103414281..103416432-chr7:103424454..103426035,2	K562	blood:
18	chr7:103409588..103414279-chr7:103419372..103424003,5	K562	blood:
19	chr7:103414281..103416432-chr7:103424454..103426035,2	K562	blood:
20	chr7:103395352..103397889-chr7:103399126..103401362,2	K562	blood:
21	chr7:103438609..103440758-chr7:103446017..103447792,2	K562	blood:
22	chr7:103442421..103443972-chr7:103446334..103447900,2	K562	blood:
23	chr7:103417666..103419702-chr7:103422926..103424579,2	K562	blood:
24	chr7:103432622..103435119-chr7:103435202..103437569,2	K562	blood:
25	chr7:103442038..103446172-chr7:103446880..103450108,3	K562	blood:
26	chr7:103215772..103217971-chr7:103405659..103407400,2	K562	blood:
27	chr7:103422935..103424556-chr7:103443024..103444916,2	K562	blood:
28	chr7:103395352..103397889-chr7:103399126..103401362,2	K562	blood:
29	chr7:103409588..103414279-chr7:103419372..103424003,5	K562	blood:
30	chr7:103400451..103402687-chr7:103404138..103407117,2	MCF-7	breast:
31	chr7:103404584..103406176-chr7:103410520..103412524,2	K562	blood:
32	chr7:103199365..103201003-chr7:103418048..103420205,2	K562	blood:
33	chr7:103423396..103425978-chr7:103435870..103438560,2	K562	blood:
34	chr7:103419863..103421657-chr7:103433485..103435667,2	K562	blood:
35	chr7:103416823..103418465-chr7:103442836..103444538,2	K562	blood:

No data

Extended variants
information (count: 1972 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1972 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148389353	chr7:103396920-103396921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139739352	chr7:103396973-103396974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569447055	chr7:103397026-103397027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533322247	chr7:103397064-103397065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111385204	chr7:103397080-103397081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3819479	chr7:103397082-103397083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567047085	chr7:103397120-103397121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73412825	chr7:103397141-103397142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370289383	chr7:103397179-103397180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555781491	chr7:103397180-103397181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200863160	chr7:103397204-103397205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10683870	chr7:103397205-103397206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34060736	chr7:103397206-103397207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10652920	chr7:103397208-103397209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540839582	chr7:103397237-103397238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192276902	chr7:103397248-103397249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74321469	chr7:103397319-103397320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28517664	chr7:103397325-103397326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577777572	chr7:103397331-103397332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4446675	chr7:103397333-103397334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550016230	chr7:103397354-103397355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs475880	chr7:103397373-103397374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572242474	chr7:103397398-103397399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs694894	chr7:103397404-103397405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184667652	chr7:103397414-103397415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10487169	chr7:103397458-103397459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs78543715	chr7:103397471-103397472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564778698	chr7:103397498-103397499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533619777	chr7:103397503-103397504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115980368	chr7:103397506-103397507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114746451	chr7:103397507-103397508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527967151	chr7:103397523-103397524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142240352	chr7:103397535-103397536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559401730	chr7:103397594-103397595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs649365	chr7:103397633-103397634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs499953	chr7:103397666-103397667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs58674757	chr7:103397691-103397692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538868768	chr7:103397714-103397715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78607735	chr7:103397787-103397788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190293717	chr7:103397797-103397798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536166515	chr7:103397818-103397819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574430051	chr7:103397831-103397832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143293074	chr7:103397857-103397858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554398913	chr7:103397897-103397898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541599460	chr7:103397922-103397923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575633597	chr7:103397944-103397945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1476446	chr7:103397953-103397954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150736339	chr7:103397961-103397962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182519899	chr7:103397971-103397972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184213455	chr7:103397995-103397996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103390000-103434000	Weak transcription	K562	blood
2	chr7:103393400-103405400	Weak transcription	HepG2	liver
3	chr7:103400800-103401000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:103401000-103402400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:103402400-103403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:103402600-103402800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:103402600-103403000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:103402600-103403600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:103403600-103405400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:103403600-103405600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:103405400-103405600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:103405400-103405800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:103405400-103406000	Strong transcription	HepG2	liver
14	chr7:103405400-103406600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:103405400-103406800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:103405400-103407600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:103405400-103407600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:103405600-103406000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:103405600-103406200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:103405600-103407200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:103405600-103407400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:103405600-103411800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:103405800-103413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:103406000-103406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:103406000-103433600	Weak transcription	HepG2	liver
26	chr7:103406200-103406400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:103406200-103407400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:103406400-103406600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:103406400-103407000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:103406600-103406800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:103406600-103407600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:103406600-103411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:103406800-103407600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:103407000-103407600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:103407600-103412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:103407600-103413600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:103411800-103412000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:103411800-103413200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:103411800-103413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:103412000-103412800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:103413200-103413400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:103413200-103418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:103413600-103414000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:103413600-103414000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
45	chr7:103414000-103414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:103418000-103418400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:103418000-103418400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:103423000-103424000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr7:103424000-103425400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:103425400-103426400	Enhancers	Pancreatic Islets	Pancreatic Islet

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