Variant report

Variant	esv3340351
Chromosome Location	chr4:91123823-91142630
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	chr4:91047305..91049283-chr4:91135439..91138227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 621 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13109951	chr4:91123874-91123875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186069055	chr4:91123880-91123881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143320423	chr4:91123905-91123906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549905726	chr4:91123919-91123920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532323865	chr4:91123928-91123929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191113495	chr4:91123939-91123940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571346684	chr4:91123977-91123978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182411561	chr4:91124043-91124044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538973199	chr4:91124080-91124081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186014572	chr4:91124127-91124128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548740040	chr4:91124162-91124163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191284530	chr4:91124164-91124165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537675434	chr4:91124200-91124201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148220320	chr4:91124265-91124266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560138880	chr4:91124299-91124300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571172001	chr4:91124324-91124325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538630949	chr4:91124325-91124326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558636164	chr4:91124330-91124331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182663254	chr4:91124369-91124370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112652683	chr4:91124396-91124397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187551421	chr4:91124417-91124418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536615806	chr4:91124463-91124464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191973388	chr4:91124510-91124511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577536176	chr4:91124518-91124519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183475972	chr4:91124520-91124521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543604211	chr4:91124580-91124581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4428251	chr4:91124595-91124596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532313617	chr4:91124602-91124603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545788715	chr4:91124628-91124629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559348398	chr4:91124681-91124682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543276864	chr4:91124683-91124684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548367715	chr4:91124687-91124688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568543826	chr4:91124726-91124727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530972094	chr4:91124759-91124760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188642909	chr4:91124788-91124789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571161872	chr4:91124809-91124810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146210088	chr4:91124836-91124837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558573958	chr4:91124864-91124865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565642789	chr4:91124896-91124897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534631863	chr4:91124897-91124898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554318434	chr4:91124912-91124913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574481625	chr4:91124913-91124914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370352551	chr4:91124935-91124936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536844594	chr4:91124939-91124940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77262386	chr4:91124971-91124972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556784482	chr4:91124972-91124973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193239279	chr4:91124990-91124991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556944079	chr4:91125046-91125047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545725495	chr4:91125048-91125049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559245138	chr4:91125059-91125060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495309	CNVD
Cancer	20164920	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91121600-91130200	Weak transcription	Pancreas	Pancrea
2	chr4:91122400-91128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:91126800-91148000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:91128600-91129000	Enhancers	Placenta	Placenta
5	chr4:91128600-91129200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:91128600-91129200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:91128600-91130800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:91128800-91129800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:91128800-91131200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:91128800-91137000	Weak transcription	Esophagus	oesophagus
11	chr4:91129000-91129200	ZNF genes & repeats	Lung	lung
12	chr4:91129000-91129400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:91129000-91129600	Flanking Active TSS	Placenta	Placenta
14	chr4:91129000-91129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:91129000-91129800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:91129000-91130000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:91129000-91130000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:91129000-91130000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr4:91129000-91130800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:91129000-91131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:91129200-91130000	Weak transcription	Lung	lung
22	chr4:91129200-91131000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:91129400-91129600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:91129400-91131200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:91129600-91130600	Enhancers	Placenta	Placenta
26	chr4:91129600-91136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:91129800-91131000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:91129800-91131200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:91130000-91130200	Weak transcription	Fetal Intestine Small	intestine
30	chr4:91130000-91130600	Enhancers	Lung	lung
31	chr4:91130000-91131200	Enhancers	Adipose Nuclei	Adipose
32	chr4:91130000-91136800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:91130200-91130600	Genic enhancers	Fetal Intestine Small	intestine
34	chr4:91130200-91130600	Enhancers	Gastric	stomach
35	chr4:91130200-91130600	Enhancers	Pancreas	Pancrea
36	chr4:91130200-91130600	Enhancers	HUVEC	blood vessel
37	chr4:91130400-91130800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:91130600-91131400	Enhancers	Stomach Mucosa	stomach
39	chr4:91130600-91131400	Flanking Active TSS	HUVEC	blood vessel
40	chr4:91130600-91135200	Weak transcription	Placenta	Placenta
41	chr4:91130600-91136800	Weak transcription	Fetal Intestine Small	intestine
42	chr4:91130600-91137000	Weak transcription	Pancreas	Pancrea
43	chr4:91130800-91131200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:91130800-91131200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr4:91130800-91148800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:91131000-91131400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:91131000-91131400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:91131200-91131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:91131200-91131400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:91131200-91132200	Weak transcription	Adipose Nuclei	Adipose

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