Variant report

Variant	esv3400231
Chromosome Location	chr4:147269396-147292066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147280177..147282704-chr4:147285099..147286866,2	MCF-7	breast:
2	chr4:147280177..147282704-chr4:147285099..147286866,2	MCF-7	breast:
3	chr4:147284742..147287681-chr4:147296749..147298295,2	K562	blood:
4	chr4:147277196..147280652-chr4:147297351..147300192,3	K562	blood:

Extended variants
information (count: 733 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60862748	chr4:147269452-147269453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75859348	chr4:147269458-147269459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536868687	chr4:147269469-147269470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72950690	chr4:147269478-147269479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs59937090	chr4:147269504-147269505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572268247	chr4:147269546-147269547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538980631	chr4:147269617-147269618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112322943	chr4:147269618-147269619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74897093	chr4:147269654-147269655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540977430	chr4:147269725-147269726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376701998	chr4:147269747-147269748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114569260	chr4:147269748-147269749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115549591	chr4:147269775-147269776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188188146	chr4:147269780-147269781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191379804	chr4:147269803-147269804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149776581	chr4:147269805-147269806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531527758	chr4:147269822-147269823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58672301	chr4:147269836-147269837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565130868	chr4:147269845-147269846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183611376	chr4:147269856-147269857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369461556	chr4:147269882-147269883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58738547	chr4:147269982-147269983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567376937	chr4:147269991-147269992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529779175	chr4:147269999-147270000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375148443	chr4:147270000-147270001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17021406	chr4:147270001-147270002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs538842386	chr4:147270032-147270033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187400390	chr4:147270106-147270107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192302617	chr4:147270164-147270165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565989783	chr4:147270165-147270166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541908109	chr4:147270208-147270209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4835299	chr4:147270210-147270211	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554696241	chr4:147270217-147270218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574763425	chr4:147270218-147270219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543594817	chr4:147270341-147270342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557425981	chr4:147270343-147270344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562707732	chr4:147270378-147270379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4835300	chr4:147270395-147270396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111431597	chr4:147270400-147270401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540173926	chr4:147270413-147270414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565193741	chr4:147270421-147270422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566762345	chr4:147270489-147270490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527556210	chr4:147270522-147270523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115485802	chr4:147270540-147270541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560755661	chr4:147270551-147270552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200303905	chr4:147270565-147270566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529682149	chr4:147270570-147270571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549655642	chr4:147270572-147270573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184774969	chr4:147270615-147270616	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532575284	chr4:147270639-147270640	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD
Breast cancer	20393555	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147265400-147270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:147268200-147269600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:147268200-147269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:147268400-147270600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:147270200-147270800	Enhancers	NHEK	skin
7	chr4:147270200-147271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:147270400-147270800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:147270600-147271600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:147270800-147271000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:147270800-147271200	Active TSS	NHEK	skin
12	chr4:147270800-147271600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:147270800-147271600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:147270800-147271600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:147270800-147271600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:147270800-147271600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:147271000-147271200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:147271000-147271400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:147271000-147271400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:147271000-147271600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr4:147271000-147271600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr4:147271000-147271600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:147271000-147271600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:147271000-147271600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:147271000-147271600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:147271000-147271600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:147271200-147271600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:147271200-147271600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:147271200-147271600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:147271200-147271600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:147271200-147271600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:147271200-147271600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:147271600-147281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:147276200-147292400	Weak transcription	Aorta	Aorta
35	chr4:147277200-147281000	Weak transcription	Primary B cells from cord blood	blood
36	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
37	chr4:147277600-147287000	Weak transcription	Small Intestine	intestine
38	chr4:147281000-147282800	Strong transcription	Primary B cells from cord blood	blood
39	chr4:147281600-147282600	Weak transcription	Fetal Intestine Large	intestine
40	chr4:147281600-147282800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:147281600-147284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:147282600-147282800	ZNF genes & repeats	Fetal Intestine Large	intestine
43	chr4:147282600-147282800	ZNF genes & repeats	Pancreas	Pancrea
44	chr4:147282800-147283000	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr4:147282800-147283000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr4:147282800-147287000	Weak transcription	Pancreas	Pancrea
47	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
48	chr4:147286800-147287400	Enhancers	Brain Anterior Caudate	brain
49	chr4:147287000-147287200	Enhancers	Brain Hippocampus Middle	brain
50	chr4:147287000-147287200	Enhancers	Brain Substantia Nigra	brain

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