Variant report

Variant	nsv437030
Chromosome Location	chr7:120550667-120562313
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	chr7:120549323..120551533-chr7:120553466..120555580,2	K562	blood:
2	chr7:120549323..120551533-chr7:120553466..120555580,2	K562	blood:
3	chr7:120546933..120548726-chr7:120560234..120561928,2	K562	blood:
4	chr7:120516895..120519430-chr7:120548685..120550943,2	K562	blood:
5	chr7:120554091..120556706-chr7:120557513..120559992,2	K562	blood:
6	chr7:120561701..120564148-chr7:120589396..120591165,2	K562	blood:
7	chr7:120558221..120561390-chr7:120571663..120574345,3	MCF-7	breast:
8	chr7:120555523..120558185-chr7:120561718..120564428,2	K562	blood:
9	chr7:120561701..120564272-chr7:120589512..120592195,3	K562	blood:
10	chr7:120555523..120558185-chr7:120561718..120564428,2	K562	blood:
11	chr7:120561753..120563679-chr7:120747463..120748993,2	K562	blood:
12	chr7:120554091..120556706-chr7:120557513..120559992,2	K562	blood:
13	chr7:120557106..120558651-chr7:120584404..120586446,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071243	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2040762	chr7:120550667-120550668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550083699	chr7:120550676-120550677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551484284	chr7:120550682-120550683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74321626	chr7:120550747-120550748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528893390	chr7:120550787-120550788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548911906	chr7:120555061-120555062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563195354	chr7:120555064-120555065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576838830	chr7:120555070-120555071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542145605	chr7:120555144-120555145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76658429	chr7:120555154-120555155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569910499	chr7:120555305-120555306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56755229	chr7:120555306-120555307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61043018	chr7:120555309-120555310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188280662	chr7:120555334-120555335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149934190	chr7:120555341-120555342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551925160	chr7:120555389-120555390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544232557	chr7:120555416-120555417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372417382	chr7:120555420-120555421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180696469	chr7:120555426-120555427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571033391	chr7:120555510-120555511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568694643	chr7:120555527-120555528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371908912	chr7:120555529-120555530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75495704	chr7:120555657-120555658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10257297	chr7:120555671-120555672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568049710	chr7:120555681-120555682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533511239	chr7:120555750-120555751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367624473	chr7:120555755-120555756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376268510	chr7:120555851-120555852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537453433	chr7:120555875-120555876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540248885	chr7:120555886-120555887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186139367	chr7:120555912-120555913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191058120	chr7:120555913-120555914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57818444	chr7:120555938-120555939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556832640	chr7:120555942-120555943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78494365	chr7:120555989-120555990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373491110	chr7:120556016-120556017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542557926	chr7:120556043-120556044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555739498	chr7:120556046-120556047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375382565	chr7:120556147-120556148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79015696	chr7:120556161-120556162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10228463	chr7:120556163-120556164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564262674	chr7:120556176-120556177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181495600	chr7:120556224-120556225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543501648	chr7:120556304-120556305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34635550	chr7:120556379-120556380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75851063	chr7:120556383-120556384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79699488	chr7:120556390-120556391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7807106	chr7:120556420-120556421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186686411	chr7:120556449-120556450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527300294	chr7:120556450-120556451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myelodysplastic syndrome	21251322	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
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120550600-120550800	Enhancers	Left Ventricle	heart
2	chr7:120555000-120556200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:120555600-120556000	Enhancers	HSMM	muscle
4	chr7:120555800-120556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:120556000-120567200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:120556200-120556600	Enhancers	Fetal Heart	heart
7	chr7:120556600-120561600	Weak transcription	Fetal Heart	heart
8	chr7:120557400-120557600	Enhancers	Fetal Muscle Leg	muscle
9	chr7:120557800-120559200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:120559000-120559800	Enhancers	HSMMtube	muscle
11	chr7:120559200-120559800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:120559800-120561000	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:120560000-120561000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:120560400-120561400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:120560800-120561400	Enhancers	Hela-S3	cervix
16	chr7:120561200-120561400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:120561400-120561800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:120561600-120561800	Enhancers	Fetal Heart	heart
19	chr7:120561800-120562200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:120561800-120562200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:120561800-120562200	Weak transcription	Fetal Heart	heart
22	chr7:120562000-120562800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:120562200-120562600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:120562200-120562600	Enhancers	Fetal Heart	heart
25	chr7:120562200-120562800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:120562200-120562800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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