Variant report

Variant	nsv527581
Chromosome Location	chr4:85637635-85640591
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	chr4:85503976..85505583-chr4:85636428..85639307,2	MCF-7	breast:
2	chr4:85638824..85641748-chr4:85648162..85650961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163624	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2015631	chr4:85637635-85637636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4502673	chr4:85637643-85637644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574740777	chr4:85637667-85637668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542164417	chr4:85637677-85637678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563652395	chr4:85637687-85637688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531080374	chr4:85637700-85637701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552380285	chr4:85637706-85637707	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564323963	chr4:85637725-85637726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190791405	chr4:85637791-85637792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547173976	chr4:85637820-85637821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113082297	chr4:85637821-85637822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534097927	chr4:85637848-85637849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554081015	chr4:85637897-85637898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375909809	chr4:85637930-85637931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186664919	chr4:85637931-85637932	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569343246	chr4:85637959-85637960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537322201	chr4:85637972-85637973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13117289	chr4:85637992-85637993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17368157	chr4:85638024-85638025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191107864	chr4:85638054-85638055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576956409	chr4:85638076-85638077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534766018	chr4:85638077-85638078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377182667	chr4:85638109-85638110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574840099	chr4:85638115-85638116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370176571	chr4:85638130-85638131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145655367	chr4:85638153-85638154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201650689	chr4:85638154-85638155	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563319722	chr4:85638248-85638249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575566529	chr4:85638256-85638257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141922281	chr4:85638270-85638271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564386745	chr4:85638273-85638274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556270037	chr4:85638298-85638299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528682019	chr4:85638318-85638319	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540782111	chr4:85638327-85638328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112928379	chr4:85638329-85638330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150666649	chr4:85638420-85638421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186480177	chr4:85638455-85638456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139381048	chr4:85638497-85638498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11724870	chr4:85638528-85638529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530869368	chr4:85638595-85638596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372255711	chr4:85638613-85638614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17009220	chr4:85638615-85638616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534531519	chr4:85638623-85638624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78122936	chr4:85638672-85638673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568487543	chr4:85638694-85638695	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535537252	chr4:85638744-85638745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190936209	chr4:85638769-85638770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373079854	chr4:85638779-85638780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575230904	chr4:85638804-85638805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545745871	chr4:85638831-85638832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
lymphocytic leukemia	21291569	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
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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85587800-85648400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr4:85603800-85643800	Weak transcription	Stomach Mucosa	stomach
3	chr4:85604400-85674800	Weak transcription	Small Intestine	intestine
4	chr4:85612600-85639600	Weak transcription	Fetal Heart	heart
5	chr4:85613400-85643000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:85613400-85646200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:85613400-85646600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:85613400-85649400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:85613600-85650200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:85615000-85677600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:85616800-85646600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:85617000-85641800	Weak transcription	Psoas Muscle	Psoas
13	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
14	chr4:85619400-85639000	Strong transcription	Adipose Nuclei	Adipose
15	chr4:85619400-85646400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:85619600-85638400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:85619600-85646400	Strong transcription	Liver	Liver
18	chr4:85620200-85640000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:85620200-85648000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:85620800-85663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:85623200-85640400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:85625000-85646600	Strong transcription	Placenta	Placenta
23	chr4:85625200-85641600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:85626800-85641600	Weak transcription	NHEK	skin
25	chr4:85626800-85641800	Weak transcription	HMEC	breast
26	chr4:85627800-85646800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:85628800-85641600	Weak transcription	Aorta	Aorta
28	chr4:85628800-85641600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:85628800-85641600	Weak transcription	Spleen	Spleen
30	chr4:85628800-85642000	Weak transcription	Gastric	stomach
31	chr4:85629200-85662400	Weak transcription	Colonic Mucosa	Colon
32	chr4:85630000-85638600	Weak transcription	Ovary	ovary
33	chr4:85630000-85641200	Weak transcription	NHLF	lung
34	chr4:85630000-85641400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:85630000-85641600	Weak transcription	Pancreas	Pancrea
36	chr4:85630000-85641800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:85630000-85656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:85630000-85659000	Weak transcription	Right Ventricle	heart
39	chr4:85630200-85639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:85630200-85639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:85630200-85641400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:85630200-85641600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:85630200-85656400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:85630800-85645600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:85631200-85641600	Weak transcription	Esophagus	oesophagus
46	chr4:85631600-85639600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:85632400-85641200	Weak transcription	Brain Angular Gyrus	brain
48	chr4:85632600-85637800	Strong transcription	Fetal Stomach	stomach
49	chr4:85632600-85639800	Strong transcription	Fetal Intestine Small	intestine
50	chr4:85632600-85641600	Weak transcription	Brain Cingulate Gyrus	brain

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