Variant report

Variant	nsv934055
Chromosome Location	chr7:103462527-103473944
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103462200..103464202-chr7:103470870..103473590,2	K562	blood:
2	chr7:103466010..103468744-chr7:103470404..103473260,3	K562	blood:
3	chr7:103466010..103468744-chr7:103470404..103473260,3	K562	blood:
4	chr7:103459433..103461236-chr7:103461916..103464408,2	K562	blood:
5	chr7:103458610..103460709-chr7:103463601..103466082,3	K562	blood:
6	chr7:103472600..103475517-chr7:103477571..103480384,3	K562	blood:
7	chr7:103455999..103458668-chr7:103467643..103469823,2	K562	blood:
8	chr7:103462200..103464202-chr7:103470870..103473590,2	K562	blood:
9	chr7:103452464..103456150-chr7:103461161..103465020,4	K562	blood:
10	chr7:103467206..103468826-chr7:103482510..103485701,3	K562	blood:
11	chr20:55884808..55887804-chr7:103468057..103471037,2	MCF-7	breast:
12	chr10:45348502..45349200-chr7:103463744..103464468,2	MCF-7	breast:
13	chr7:103472175..103477480-chr7:103478652..103481731,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252064	chromatin interactions

Extended variants
information (count: 458 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566679532	chr7:103462533-103462534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534089455	chr7:103462554-103462555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs39342	chr7:103462575-103462576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs144115901	chr7:103462643-103462644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537793427	chr7:103462676-103462677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556314328	chr7:103462777-103462778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189680533	chr7:103463011-103463012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577777773	chr7:103463058-103463059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536488683	chr7:103463076-103463077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182358577	chr7:103463081-103463082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200792353	chr7:103463386-103463387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201480690	chr7:103463387-103463388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199953836	chr7:103463388-103463389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539673782	chr7:103463414-103463415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558327336	chr7:103463436-103463437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187658260	chr7:103463491-103463492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150702449	chr7:103463518-103463519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562000279	chr7:103463523-103463524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573720727	chr7:103463674-103463675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140055520	chr7:103463694-103463695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200743704	chr7:103463695-103463696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115847584	chr7:103463746-103463747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183296969	chr7:103463766-103463767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372776987	chr7:103463789-103463790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565202175	chr7:103463816-103463817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533441504	chr7:103463850-103463851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551331039	chr7:103463881-103463882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368433167	chr7:103463905-103463906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116149565	chr7:103463937-103463938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562979419	chr7:103463959-103463960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139966008	chr7:103463975-103463976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs39343	chr7:103463998-103463999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs377400585	chr7:103464026-103464027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570154236	chr7:103464030-103464031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188745980	chr7:103464052-103464053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201088878	chr7:103464077-103464078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558545645	chr7:103464102-103464103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561718838	chr7:103464111-103464112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527681293	chr7:103464115-103464116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149838186	chr7:103464189-103464190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547643397	chr7:103464206-103464207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538718465	chr7:103464235-103464236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571097199	chr7:103464254-103464255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs264376	chr7:103464257-103464258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550134672	chr7:103464305-103464306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534106382	chr7:103464307-103464308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192524326	chr7:103464308-103464309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs264375	chr7:103464318-103464319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs544229435	chr7:103464324-103464325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201963342	chr7:103464330-103464331	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103457800-103472000	Weak transcription	HepG2	liver
2	chr7:103461200-103482400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:103464800-103465800	Weak transcription	K562	blood
4	chr7:103465800-103466600	Strong transcription	K562	blood
5	chr7:103466600-103481800	Weak transcription	K562	blood
6	chr7:103469600-103470000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:103470000-103470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:103470200-103470600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:103470600-103471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:103472000-103472200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:103472000-103473200	Strong transcription	HepG2	liver
12	chr7:103473200-103495200	Weak transcription	HepG2	liver

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