Variant report

Variant	esv3431167
Chromosome Location	chr4:53721367-53721742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:53716501..53719430-chr4:53720319..53723628,3	K562	blood:
2	chr4:53718830..53724031-chr4:53726765..53729736,6	MCF-7	breast:
3	chr4:53577122..53581435-chr4:53720877..53725671,6	MCF-7	breast:
4	chr4:53713812..53716438-chr4:53719850..53722220,2	K562	blood:

Variant related genes	Relation type
ENSG00000128045	chromatin interactions
ENSG00000212588	chromatin interactions
ENSG00000226950	chromatin interactions
ENSG00000264585	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557709912	chr4:53721439-53721440	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs560425976	chr4:53721443-53721444	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs6554056	chr4:53721466-53721467	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35774238	chr4:53721471-53721472	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs546942297	chr4:53721489-53721490	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs538714789	chr4:53721530-53721531	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs190860331	chr4:53721531-53721532	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs4864683	chr4:53721598-53721599	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146420733	chr4:53721610-53721611	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs182286008	chr4:53721615-53721616	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs73814877	chr4:53721673-53721674	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534175831	chr4:53721683-53721684	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs568986871	chr4:53721686-53721687	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374371522	chr4:53721687-53721688	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374882168	chr4:53721690-53721691	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs34956306	chr4:53721696-53721697	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs559242516	chr4:53721710-53721711	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs71195128	chr4:53721721-53721722	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs376298005	chr4:53721725-53721726	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs10665740	chr4:53721726-53721727	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs202147649	chr4:53721729-53721730	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53716000-53722200	Enhancers	Fetal Heart	heart
2	chr4:53716600-53721600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:53718000-53723600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:53719000-53721400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:53719200-53721400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:53719200-53721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:53719200-53721800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:53719200-53723800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:53719400-53721400	Weak transcription	Fetal Brain Male	brain
10	chr4:53719800-53721400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:53719800-53721400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:53719800-53727400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:53719800-53727400	Weak transcription	Ovary	ovary
14	chr4:53720000-53721400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:53720400-53722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:53720600-53722200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:53720600-53722400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:53720600-53727800	Weak transcription	Aorta	Aorta
19	chr4:53720600-53728000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:53720800-53721400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:53720800-53722400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:53721000-53721600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:53721000-53721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:53721000-53722000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:53721000-53722200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:53721200-53721400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:53721200-53721600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:53721400-53721600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:53721400-53721800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:53721400-53721800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:53721400-53722000	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:53721400-53722000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:53721400-53722200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:53721400-53722200	Enhancers	Fetal Brain Male	brain
35	chr4:53721400-53722400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:53721400-53726000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:53721600-53722200	Enhancers	Dnd41	blood
38	chr4:53721600-53722400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links