Variant report

Variant	nsv889158
Chromosome Location	chr7:125418926-125468145
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	chr7:125425665..125427173-chr7:125429693..125431589,2	K562	blood:
2	chr7:125414524..125416692-chr7:125417841..125420169,2	K562	blood:
3	chr3:189159456..189161667-chr7:125457789..125460538,2	MCF-7	breast:
4	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
5	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:
6	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
7	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
8	chr7:125466756..125469484-chr9:139938867..139941802,2	MCF-7	breast:
9	chr7:125435373..125437398-chr7:125441806..125444028,2	K562	blood:
10	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:
11	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
12	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
13	chr7:125435373..125437398-chr7:125441806..125444028,2	K562	blood:
14	chr7:125425665..125427173-chr7:125429693..125431589,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107281	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:464 , 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	rs7782610	chr7:125418926-125418927	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs553355450	chr7:125418934-125418935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554208461	chr7:125418973-125418974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77873649	chr7:125419017-125419018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535575631	chr7:125419050-125419051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557141309	chr7:125419120-125419121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144961270	chr7:125419196-125419197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531292234	chr7:125419245-125419246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543142025	chr7:125419279-125419280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57033334	chr7:125419290-125419291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147527597	chr7:125419297-125419298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569432075	chr7:125419333-125419334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185473123	chr7:125419340-125419341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559340667	chr7:125419341-125419342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189591234	chr7:125419379-125419380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180934498	chr7:125419406-125419407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572290713	chr7:125419412-125419413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375740993	chr7:125419420-125419421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145914697	chr7:125419421-125419422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186178394	chr7:125419455-125419456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527658354	chr7:125419469-125419470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537519597	chr7:125419484-125419485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552674657	chr7:125419494-125419495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570938317	chr7:125419554-125419555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79660316	chr7:125419555-125419556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369303818	chr7:125419558-125419559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115331313	chr7:125419569-125419570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192452557	chr7:125419601-125419602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575024428	chr7:125419734-125419735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183401390	chr7:125419758-125419759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188845772	chr7:125419838-125419839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575607026	chr7:125419876-125419877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191594844	chr7:125419881-125419882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140106363	chr7:125419905-125419906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576876784	chr7:125419907-125419908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145504010	chr7:125419935-125419936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144951676	chr7:125419979-125419980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529929386	chr7:125419991-125419992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182527011	chr7:125420000-125420001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575798228	chr7:125420033-125420034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563595714	chr7:125420034-125420035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs118025170	chr7:125420047-125420048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149069892	chr7:125420069-125420070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543402523	chr7:125420086-125420087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570809130	chr7:125420087-125420088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142112186	chr7:125420088-125420089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112444774	chr7:125420099-125420100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532385745	chr7:125420123-125420124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568667741	chr7:125420160-125420161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535676450	chr7:125420164-125420165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125413800-125421400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:125421400-125421600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:125452800-125454600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:125454200-125454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:125454800-125455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:125455200-125456000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:125456000-125459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:125459600-125459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:125459800-125460200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:125460200-125460800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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