Variant report

Variant	esv1804200
Chromosome Location	chr4:110840722-110845607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
2	chr4:110832543..110837844-chr4:110838197..110841134,5	K562	blood:
3	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:
4	chr4:110833711..110835957-chr4:110841133..110842667,2	MCF-7	breast:
5	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
6	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:

Variant related genes	Relation type
ENSG00000138798	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568630353	chr4:110840741-110840742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12640600	chr4:110840748-110840749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78657730	chr4:110840785-110840786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189611941	chr4:110840786-110840787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150896325	chr4:110840791-110840792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139475160	chr4:110840811-110840812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573427655	chr4:110840815-110840816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565650251	chr4:110840840-110840841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4141078	chr4:110840867-110840868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559060810	chr4:110840869-110840870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2881559	chr4:110840946-110840947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182072740	chr4:110840965-110840966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369962196	chr4:110840981-110840982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74895118	chr4:110840985-110840986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143143954	chr4:110841014-110841015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2347136	chr4:110841026-110841027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146705639	chr4:110841067-110841068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77648837	chr4:110841137-110841138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369748884	chr4:110841174-110841175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551978047	chr4:110841187-110841188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368844762	chr4:110841290-110841291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538397768	chr4:110841372-110841373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538035812	chr4:110841383-110841384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568589819	chr4:110841405-110841406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186276689	chr4:110841418-110841419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547869379	chr4:110841426-110841427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78222712	chr4:110841430-110841431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372724445	chr4:110841476-110841477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533554980	chr4:110841629-110841630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144121725	chr4:110841715-110841716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188987267	chr4:110841721-110841722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539207246	chr4:110841729-110841730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145002583	chr4:110841799-110841800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575631344	chr4:110841823-110841824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181408257	chr4:110841839-110841840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185335859	chr4:110841901-110841902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149076398	chr4:110841961-110841962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540250874	chr4:110841985-110841986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369345622	chr4:110841992-110841993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2237042	chr4:110842020-110842021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190582471	chr4:110842031-110842032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112077437	chr4:110842045-110842046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182976392	chr4:110842049-110842050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185805315	chr4:110842084-110842085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531305574	chr4:110842128-110842129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376044837	chr4:110842165-110842166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548220528	chr4:110842214-110842215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568070846	chr4:110842218-110842219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527245084	chr4:110842322-110842323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547435214	chr4:110842334-110842335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:110835200-110842200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:110836200-110841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:110836600-110842000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110836800-110842400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:110836800-110842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:110837000-110842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110837200-110842000	Weak transcription	HSMMtube	muscle
11	chr4:110837400-110842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:110837600-110842600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:110837800-110841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:110837800-110842200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:110838000-110840800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:110838000-110840800	Weak transcription	Fetal Intestine Small	intestine
18	chr4:110838000-110842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:110838400-110841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:110839200-110841000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:110840000-110842000	Weak transcription	Pancreas	Pancrea
22	chr4:110840200-110840800	Weak transcription	Psoas Muscle	Psoas
23	chr4:110840600-110849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:110840800-110841000	Enhancers	Psoas Muscle	Psoas
25	chr4:110840800-110844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:110841000-110842000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:110841000-110842800	Weak transcription	Psoas Muscle	Psoas
28	chr4:110841400-110843200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:110841400-110843200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:110841600-110843200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:110841600-110843600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:110841800-110843200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:110842000-110843000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:110842000-110843200	Enhancers	Pancreas	Pancrea
35	chr4:110842000-110843200	Enhancers	HSMM	muscle
36	chr4:110842000-110843200	Enhancers	HSMMtube	muscle
37	chr4:110842000-110843200	Enhancers	NH-A	brain
38	chr4:110842000-110843400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:110842000-110843400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:110842000-110844000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:110842200-110842800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:110842200-110843200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:110842200-110843200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:110842400-110842800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:110842400-110843000	Enhancers	Osteobl	bone
46	chr4:110842400-110843200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr4:110842400-110843200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:110842400-110843200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:110842400-110843400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:110842600-110843200	Enhancers	HUES6 Cell Line	embryonic stem cell

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