Variant report

Variant	nsv523031
Chromosome Location	chr7:103457789-103470499
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:45348502..45349200-chr7:103463744..103464468,2	MCF-7	breast:
2	chr7:103455999..103458668-chr7:103467643..103469823,2	K562	blood:
3	chr7:103459433..103461236-chr7:103461916..103464408,2	K562	blood:
4	chr7:103455999..103458668-chr7:103467643..103469823,2	K562	blood:
5	chr7:103462200..103464202-chr7:103470870..103473590,2	K562	blood:
6	chr7:103459433..103461236-chr7:103461916..103464408,2	K562	blood:
7	chr20:55884808..55887804-chr7:103468057..103471037,2	MCF-7	breast:
8	chr7:103458610..103460709-chr7:103463601..103466082,3	K562	blood:
9	chr7:103466010..103468744-chr7:103470404..103473260,3	K562	blood:
10	chr7:103458610..103460709-chr7:103463601..103466082,3	K562	blood:
11	chr7:103467206..103468826-chr7:103482510..103485701,3	K562	blood:
12	chr7:103453840..103455348-chr7:103457770..103460574,2	K562	blood:
13	chr7:103452464..103456150-chr7:103461161..103465020,4	K562	blood:
14	chr7:103466010..103468744-chr7:103470404..103473260,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252064	chromatin interactions

Extended variants
information (count: 470 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:470 , 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	rs13225455	chr7:103457789-103457790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs262365	chr7:103457817-103457818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532925018	chr7:103457855-103457856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576595890	chr7:103457935-103457936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190709506	chr7:103457948-103457949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183277250	chr7:103457986-103457987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551350267	chr7:103458110-103458111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563070005	chr7:103458120-103458121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377482983	chr7:103458133-103458134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187921374	chr7:103458164-103458165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192899627	chr7:103458213-103458214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529712727	chr7:103458226-103458227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185392795	chr7:103458238-103458239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569444376	chr7:103458247-103458248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147455099	chr7:103458248-103458249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs262364	chr7:103458263-103458264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs262363	chr7:103458303-103458304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145612499	chr7:103458362-103458363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370302859	chr7:103458385-103458386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533493772	chr7:103458404-103458405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71154371	chr7:103458408-103458409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71558650	chr7:103458410-103458411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372884860	chr7:103458425-103458426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187915120	chr7:103458428-103458429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536685360	chr7:103458457-103458458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7808351	chr7:103458478-103458479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576659893	chr7:103458485-103458486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs262362	chr7:103458509-103458510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192942805	chr7:103458525-103458526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs262361	chr7:103458537-103458538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540839568	chr7:103458589-103458590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577038254	chr7:103458632-103458633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78097787	chr7:103458668-103458669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80352042	chr7:103458674-103458675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74845564	chr7:103458706-103458707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76420058	chr7:103458707-103458708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147305115	chr7:103458708-103458709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183683291	chr7:103458747-103458748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79789841	chr7:103458768-103458769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532757365	chr7:103458788-103458789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542806906	chr7:103458869-103458870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370043910	chr7:103458873-103458874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547661404	chr7:103458904-103458905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566391849	chr7:103458912-103458913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536544310	chr7:103458996-103458997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548646315	chr7:103458997-103458998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570076290	chr7:103459031-103459032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113783237	chr7:103459034-103459035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118039418	chr7:103459043-103459044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142396553	chr7:103459058-103459059	Enhancers 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103455200-103457800	Enhancers	HepG2	liver
2	chr7:103457800-103472000	Weak transcription	HepG2	liver
3	chr7:103458400-103459400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:103461200-103482400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:103464800-103465800	Weak transcription	K562	blood
6	chr7:103465800-103466600	Strong transcription	K562	blood
7	chr7:103466600-103481800	Weak transcription	K562	blood
8	chr7:103469600-103470000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:103470000-103470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:103470200-103470600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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