Variant report

Variant	esv13123
Chromosome Location	chr4:106708350-106717147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
2	chr4:106700749..106702842-chr4:106706206..106708472,2	K562	blood:
3	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
4	chr4:106716229..106719180-chr4:106725111..106727135,2	MCF-7	breast:

Extended variants
information (count: 267 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:267 , 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	rs141809570	chr4:106708377-106708378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546092913	chr4:106708490-106708491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556475582	chr4:106708491-106708492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186744643	chr4:106708552-106708553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532870023	chr4:106708585-106708586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546203816	chr4:106708605-106708606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147116860	chr4:106708666-106708667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191259690	chr4:106708719-106708720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548134202	chr4:106708726-106708727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568259965	chr4:106708755-106708756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11736834	chr4:106708764-106708765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs59903260	chr4:106708778-106708779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11736859	chr4:106708785-106708786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs184833494	chr4:106708787-106708788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544275497	chr4:106708826-106708827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538798328	chr4:106708943-106708944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558593122	chr4:106708979-106708980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138621582	chr4:106709004-106709005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190409186	chr4:106709222-106709223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142711462	chr4:106709229-106709230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554596087	chr4:106709248-106709249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574620149	chr4:106709299-106709300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533629755	chr4:106709333-106709334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182283313	chr4:106709399-106709400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150305126	chr4:106709416-106709417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137976042	chr4:106709458-106709459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577385811	chr4:106709479-106709480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35708391	chr4:106709483-106709484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34476592	chr4:106709485-106709486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546340727	chr4:106709506-106709507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149495385	chr4:106709544-106709545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2553471	chr4:106709583-106709584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369112611	chr4:106709584-106709585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541859379	chr4:106709699-106709700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575562890	chr4:106709773-106709774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527812679	chr4:106709791-106709792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547595523	chr4:106709977-106709978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564568649	chr4:106710069-106710070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532214334	chr4:106710078-106710079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17036225	chr4:106710092-106710093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs569216401	chr4:106710119-106710120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538122812	chr4:106710194-106710195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548237435	chr4:106710196-106710197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185240680	chr4:106710263-106710264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568086631	chr4:106710270-106710271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190185879	chr4:106710351-106710352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558383146	chr4:106710364-106710365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72673812	chr4:106710454-106710455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576828144	chr4:106710535-106710536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539694639	chr4:106710551-106710552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106692400-106729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:106694000-106718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
4	chr4:106697200-106725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:106697800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:106698000-106725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:106698200-106719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:106705600-106713400	Weak transcription	HSMM	muscle
10	chr4:106710400-106711000	Weak transcription	Left Ventricle	heart
11	chr4:106710600-106710800	Enhancers	Pancreas	Pancrea
12	chr4:106710600-106711000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:106714200-106725800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:106717000-106717200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links