Variant report

Variant	nsv5936
Chromosome Location	chr7:125447198-125475648
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
2	chr3:189159456..189161667-chr7:125457789..125460538,2	MCF-7	breast:
3	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
4	chr7:125466756..125469484-chr9:139938867..139941802,2	MCF-7	breast:
5	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
6	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:
7	chr7:125449848..125452738-chr7:125466258..125468115,2	K562	blood:
8	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:
9	chr7:125458557..125461124-chr7:125464853..125467696,2	K562	blood:
10	chr7:125458557..125461124-chr7:125464853..125467696,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107281	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531939835	chr7:125452879-125452880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567256260	chr7:125452895-125452896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550194373	chr7:125452905-125452906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375016585	chr7:125452909-125452910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145494616	chr7:125452938-125452939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138020081	chr7:125452966-125452967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191631183	chr7:125452981-125452982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149384052	chr7:125453041-125453042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566438332	chr7:125453050-125453051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117418898	chr7:125453086-125453087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377340575	chr7:125453104-125453105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370774949	chr7:125453149-125453150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555053299	chr7:125453181-125453182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77194773	chr7:125453198-125453199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4728029	chr7:125453254-125453255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs183148986	chr7:125453257-125453258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577901746	chr7:125453300-125453301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545337389	chr7:125453304-125453305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35204884	chr7:125453325-125453326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199757685	chr7:125453326-125453327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200489165	chr7:125453327-125453328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554180849	chr7:125453415-125453416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572474251	chr7:125453420-125453421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543101048	chr7:125453441-125453442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148093130	chr7:125453445-125453446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141817368	chr7:125453463-125453464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73720045	chr7:125453490-125453491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561488992	chr7:125453492-125453493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565355533	chr7:125453499-125453500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77109732	chr7:125453537-125453538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547691558	chr7:125453566-125453567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12537276	chr7:125453590-125453591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12540043	chr7:125453653-125453654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548802144	chr7:125453654-125453655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6976108	chr7:125453740-125453741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs56127315	chr7:125453837-125453838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187253394	chr7:125453890-125453891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73720046	chr7:125453915-125453916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141064033	chr7:125453922-125453923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554117568	chr7:125453936-125453937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530672605	chr7:125453986-125453987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550370579	chr7:125454047-125454048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545256843	chr7:125454060-125454061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536688562	chr7:125454078-125454079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567420216	chr7:125454088-125454089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374819692	chr7:125454104-125454105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370551572	chr7:125454161-125454162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115355739	chr7:125454166-125454167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11422505	chr7:125454175-125454176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs68027126	chr7:125454176-125454177	Enhancers	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	chr7:125452800-125454600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:125454200-125454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:125454800-125455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:125455200-125456000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:125456000-125459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:125459600-125459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:125459800-125460200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:125460200-125460800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:125472600-125481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:125474000-125474800	Enhancers	Cortex derived primary cultured neurospheres	brain

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