Variant report

Variant	nsv5926
Chromosome Location	chr7:119350040-119389641
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
2	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
3	chr7:119364396..119367239-chr7:119368438..119370916,2	K562	blood:
4	chr19:36605122..36607888-chr7:119364197..119366657,2	MCF-7	breast:
5	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
6	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
7	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
8	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
9	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
10	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
11	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:
12	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
13	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
14	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
15	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
16	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
17	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
18	chr7:119360284..119363279-chr7:119373457..119376079,2	K562	blood:
19	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
20	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
21	chr7:119356426..119358294-chr7:119362114..119365311,3	K562	blood:
22	chr7:119360959..119363712-chr7:119366753..119368692,2	K562	blood:
23	chr7:119348460..119350527-chr7:119352829..119355249,2	K562	blood:
24	chr7:119356426..119358294-chr7:119363548..119365311,2	K562	blood:
25	chr7:119368480..119370359-chr7:119372677..119374451,2	K562	blood:
26	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
27	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
28	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105254	chromatin interactions
ENSG00000105258	chromatin interactions

Extended variants
information (count: 1362 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1362 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144206683	chr7:119350046-119350047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58326677	chr7:119350052-119350053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150268898	chr7:119350058-119350059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565819324	chr7:119350112-119350113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183863499	chr7:119350128-119350129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552081964	chr7:119350158-119350159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372548798	chr7:119350259-119350260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562328754	chr7:119350261-119350262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531369244	chr7:119350262-119350263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548389818	chr7:119350283-119350284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188384889	chr7:119350300-119350301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73211880	chr7:119350301-119350302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61127464	chr7:119350314-119350315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376195143	chr7:119350341-119350342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117203214	chr7:119350393-119350394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143909022	chr7:119350413-119350414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146657533	chr7:119350474-119350475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576828332	chr7:119350521-119350522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181197743	chr7:119350559-119350560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6975347	chr7:119350575-119350576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574437206	chr7:119350591-119350592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6955609	chr7:119350599-119350600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559872677	chr7:119350617-119350618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576465151	chr7:119350708-119350709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139145919	chr7:119350750-119350751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185852212	chr7:119350834-119350835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191821706	chr7:119350889-119350890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548042782	chr7:119350950-119350951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561961044	chr7:119350989-119350990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181728348	chr7:119351003-119351004	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547902851	chr7:119351009-119351010	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543416122	chr7:119351010-119351011	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535632810	chr7:119351055-119351056	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56280460	chr7:119351086-119351087	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550201817	chr7:119351118-119351119	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570322890	chr7:119351173-119351174	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368867886	chr7:119351199-119351200	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187218427	chr7:119351204-119351205	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555678603	chr7:119351252-119351253	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35746140	chr7:119351374-119351375	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184559485	chr7:119351398-119351399	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200845895	chr7:119351399-119351400	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10250125	chr7:119351400-119351401	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62477383	chr7:119351402-119351403	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71544793	chr7:119351403-119351404	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199669230	chr7:119351404-119351405	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71153488	chr7:119351419-119351420	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200761750	chr7:119351420-119351421	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144795785	chr7:119351519-119351520	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372549428	chr7:119351532-119351533	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119346800-119364200	Weak transcription	K562	blood
2	chr7:119351000-119351600	Active TSS	GM12878-XiMat	blood
3	chr7:119359000-119360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:119359400-119362000	Enhancers	HUVEC	blood vessel
5	chr7:119360200-119360600	Enhancers	NHDF-Ad	bronchial
6	chr7:119360200-119361400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:119360200-119362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:119360400-119361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:119360400-119361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:119360600-119362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:119362000-119362600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:119364200-119364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:119364200-119364800	Enhancers	K562	blood
14	chr7:119364800-119416000	Weak transcription	K562	blood
15	chr7:119366200-119367600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:119367600-119368000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:119368000-119374400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:119372800-119374400	Enhancers	HMEC	breast
19	chr7:119373000-119373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:119373000-119373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:119373000-119373800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:119373000-119374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:119373000-119374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:119373000-119374200	Enhancers	NHEK	skin
25	chr7:119373600-119374000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:119374000-119374400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:119374400-119374600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
32	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:119388200-119390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:119388400-119388800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:119388400-119388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:119388600-119389000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:119388600-119389600	Enhancers	Fetal Heart	heart
38	chr7:119388600-119389600	Enhancers	Fetal Lung	lung
39	chr7:119388800-119389400	Enhancers	Brain Germinal Matrix	brain
40	chr7:119388800-119393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:119388800-119394600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:119389200-119393400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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