Variant report

Variant	esv2830333
Chromosome Location	chr4:85520643-85545644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:85541610..85544476-chr4:85547314..85549539,2	K562	blood:
2	chr4:85523348..85525094-chr4:85525638..85528361,2	MCF-7	breast:
3	chr4:85523348..85525094-chr4:85525638..85528361,2	MCF-7	breast:
4	chr4:85502612..85505870-chr4:85521157..85526091,6	MCF-7	breast:
5	chr4:85520920..85523731-chr4:85525752..85528503,2	K562	blood:
6	chr4:85522392..85524948-chr4:85526701..85529127,2	MCF-7	breast:
7	chr4:85520920..85523731-chr4:85525752..85528503,2	K562	blood:
8	chr4:85522392..85524948-chr4:85526701..85529127,2	MCF-7	breast:
9	chr4:85516667..85518357-chr4:85520389..85522832,2	K562	blood:
10	chr4:85523808..85526163-chr4:85537761..85540086,2	MCF-7	breast:
11	chr4:85502246..85504834-chr4:85536491..85539087,2	MCF-7	breast:
12	chr4:85535638..85537405-chr4:85537938..85540350,2	K562	blood:
13	chr4:85523808..85526163-chr4:85537761..85540086,2	MCF-7	breast:
14	chr4:85502040..85503773-chr4:85544764..85547239,2	MCF-7	breast:
15	chr4:85535638..85537405-chr4:85537938..85540350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163624	chromatin interactions

Extended variants
information (count: 929 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2868919	chr4:85520643-85520644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561948886	chr4:85520659-85520660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59999613	chr4:85520660-85520661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200732114	chr4:85520774-85520775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543750981	chr4:85520783-85520784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2868920	chr4:85520785-85520786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533630562	chr4:85520787-85520788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537127314	chr4:85520791-85520792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528615495	chr4:85520817-85520818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560621450	chr4:85520819-85520820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528203945	chr4:85520826-85520827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546665626	chr4:85520827-85520828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568012483	chr4:85520876-85520877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374827912	chr4:85520906-85520907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556356002	chr4:85520975-85520976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550637154	chr4:85520990-85520991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568829073	chr4:85521003-85521004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539323425	chr4:85521049-85521050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557535161	chr4:85521110-85521111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149751420	chr4:85521143-85521144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183716672	chr4:85521152-85521153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145600751	chr4:85521192-85521193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573982708	chr4:85521205-85521206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149141407	chr4:85521252-85521253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367667991	chr4:85521280-85521281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188699272	chr4:85521311-85521312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578250644	chr4:85521312-85521313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545674912	chr4:85521326-85521327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147876591	chr4:85521334-85521335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112387987	chr4:85521364-85521365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112559666	chr4:85521387-85521388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192810805	chr4:85521393-85521394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561806197	chr4:85521416-85521417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114588081	chr4:85521452-85521453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147055824	chr4:85521474-85521475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148145540	chr4:85521475-85521476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373580668	chr4:85521501-85521502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539358663	chr4:85521577-85521578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141024658	chr4:85521604-85521605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373198062	chr4:85521633-85521634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184527868	chr4:85521710-85521711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555233756	chr4:85521712-85521713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530735994	chr4:85521727-85521728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567767074	chr4:85521758-85521759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188840662	chr4:85521763-85521764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371927580	chr4:85521775-85521776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556605610	chr4:85521870-85521871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191699490	chr4:85521908-85521909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545722760	chr4:85522013-85522014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578063168	chr4:85522049-85522050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85508800-85531000	Weak transcription	Pancreas	Pancrea
2	chr4:85512000-85531000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:85515400-85544400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:85515800-85530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:85517800-85531400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:85518000-85530600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:85518000-85531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:85518200-85529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:85518600-85526000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:85518600-85536200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:85518600-85574800	Weak transcription	Stomach Mucosa	stomach
12	chr4:85518800-85531000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:85519000-85530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:85519000-85536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:85519200-85527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:85519600-85524400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:85519600-85527400	Weak transcription	NHEK	skin
18	chr4:85520200-85527400	Weak transcription	HMEC	breast
19	chr4:85520400-85527600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:85520400-85527800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:85520400-85527800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:85520400-85529200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:85520400-85529800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:85520400-85559400	Weak transcription	Fetal Heart	heart
25	chr4:85524200-85524400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:85524400-85524600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:85524400-85524600	Enhancers	Esophagus	oesophagus
28	chr4:85524400-85524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:85524400-85530800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:85524600-85536400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:85524600-85536400	Weak transcription	Esophagus	oesophagus
32	chr4:85524800-85533800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:85525000-85564200	Weak transcription	Placenta	Placenta
34	chr4:85526000-85527200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:85526800-85583000	Weak transcription	Gastric	stomach
36	chr4:85527000-85528400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:85527200-85529600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:85527200-85530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:85527200-85530600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:85527400-85528400	Enhancers	NHEK	skin
41	chr4:85527400-85528800	Enhancers	HMEC	breast
42	chr4:85527600-85528600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:85527800-85528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:85527800-85529600	Weak transcription	Brain Anterior Caudate	brain
45	chr4:85527800-85535400	Strong transcription	Fetal Intestine Small	intestine
46	chr4:85528200-85548200	Weak transcription	Colonic Mucosa	Colon
47	chr4:85528400-85529000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:85528400-85529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:85528400-85531200	Weak transcription	NHEK	skin
50	chr4:85528400-85564000	Weak transcription	Fetal Kidney	kidney

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