Variant report

Variant	esv3338857
Chromosome Location	chr4:144181087-144184122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144153122..144155090-chr4:144182581..144184458,2	K562	blood:
2	chr4:144179114..144181854-chr4:144256791..144259363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109458	chromatin interactions
ENSG00000178972	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559688763	chr4:144181087-144181088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529976131	chr4:144181109-144181110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371157702	chr4:144181112-144181113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532316197	chr4:144181123-144181124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569608569	chr4:144181156-144181157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34276433	chr4:144181231-144181232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116144905	chr4:144181242-144181243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113411366	chr4:144181258-144181259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571787293	chr4:144181324-144181325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377387711	chr4:144181328-144181329	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553898004	chr4:144181334-144181335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs116217255	chr4:144181339-144181340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536512767	chr4:144181350-144181351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554566043	chr4:144181374-144181375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185528003	chr4:144181462-144181463	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112579220	chr4:144181471-144181472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543586390	chr4:144181477-144181478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559007357	chr4:144181559-144181560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577222429	chr4:144181668-144181669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541237354	chr4:144181682-144181683	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573836968	chr4:144181686-144181687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559555978	chr4:144181690-144181691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs6816223	chr4:144181711-144181712	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6832943	chr4:144181717-144181718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35653557	chr4:144181719-144181720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150719970	chr4:144181720-144181721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530519281	chr4:144181723-144181724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552030366	chr4:144181730-144181731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367880440	chr4:144181731-144181732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77214067	chr4:144181758-144181759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs300922	chr4:144181767-144181768	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115936818	chr4:144181790-144181791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139090992	chr4:144181798-144181799	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536575042	chr4:144181844-144181845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554825908	chr4:144181852-144181853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569999481	chr4:144181864-144181865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs300923	chr4:144181898-144181899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558639842	chr4:144181971-144181972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577284679	chr4:144181975-144181976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6833582	chr4:144181992-144181993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs58312820	chr4:144182007-144182008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189649330	chr4:144182020-144182021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372267041	chr4:144182064-144182065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10519678	chr4:144182073-144182074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs542187484	chr4:144182078-144182079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563594178	chr4:144182157-144182158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373701811	chr4:144182164-144182165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs300924	chr4:144182185-144182186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181937897	chr4:144182233-144182234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146450032	chr4:144182334-144182335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144172800-144184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:144173600-144184000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:144180200-144183800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:144180600-144183400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:144181600-144182400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:144181800-144182200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:144182000-144182400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:144182400-144184000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:144182800-144184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:144182800-144184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:144183400-144184400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:144183800-144184600	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:144183800-144184800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:144184000-144184400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:144184000-144184400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:144184000-144184400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:144184000-144184400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:144184000-144184600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr4:144184000-144184600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:144184000-144184800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:144184000-144184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:144184000-144184800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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