Variant report

Variant	esv2653807
Chromosome Location	chr4:56858322-56859755
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	chr4:56857985..56860799-chr4:56861315..56863156,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113747840	chr4:56858322-56858323	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142871552	chr4:56858335-56858336	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11945709	chr4:56858450-56858451	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182907550	chr4:56858495-56858496	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147016388	chr4:56858497-56858498	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552831607	chr4:56858507-56858508	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188410770	chr4:56858557-56858558	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540991383	chr4:56858582-56858583	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564343377	chr4:56858614-56858615	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs578161219	chr4:56858621-56858622	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs112958722	chr4:56858626-56858627	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs73155568	chr4:56858637-56858638	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567232363	chr4:56858643-56858644	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs138080524	chr4:56858701-56858702	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs542722836	chr4:56858740-56858741	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs376348251	chr4:56858776-56858777	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs141740749	chr4:56858824-56858825	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551369425	chr4:56858825-56858826	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370780539	chr4:56858834-56858835	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150523840	chr4:56858854-56858855	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191245700	chr4:56858909-56858910	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555859228	chr4:56858923-56858924	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78228630	chr4:56858938-56858939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567454660	chr4:56858939-56858940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536073266	chr4:56858976-56858977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182354353	chr4:56859055-56859056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187551974	chr4:56859082-56859083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192538297	chr4:56859087-56859088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558090223	chr4:56859090-56859091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73240504	chr4:56859098-56859099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544092252	chr4:56859135-56859136	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184214778	chr4:56859137-56859138	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190074502	chr4:56859144-56859145	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574268640	chr4:56859180-56859181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543210153	chr4:56859216-56859217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528221870	chr4:56859244-56859245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150676824	chr4:56859245-56859246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371185049	chr4:56859246-56859247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193182162	chr4:56859253-56859254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528147893	chr4:56859257-56859258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544788397	chr4:56859273-56859274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535344807	chr4:56859323-56859324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577621297	chr4:56859331-56859332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564890925	chr4:56859346-56859347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571134772	chr4:56859397-56859398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544593352	chr4:56859463-56859464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530473296	chr4:56859500-56859501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550833814	chr4:56859501-56859502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373242418	chr4:56859514-56859515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564405499	chr4:56859547-56859548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
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
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56815800-56875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:56816200-56873400	Weak transcription	Pancreas	Pancrea
3	chr4:56816200-56884200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:56816200-56887800	Weak transcription	Gastric	stomach
5	chr4:56816400-56866000	Weak transcription	Spleen	Spleen
6	chr4:56816400-56890800	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:56816600-56865800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:56816600-56890600	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
10	chr4:56816800-56865800	Weak transcription	Small Intestine	intestine
11	chr4:56816800-56869800	Weak transcription	HepG2	liver
12	chr4:56817400-56885400	Weak transcription	NHDF-Ad	bronchial
13	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
14	chr4:56819200-56859600	Weak transcription	Fetal Kidney	kidney
15	chr4:56819200-56890600	Weak transcription	NHLF	lung
16	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
17	chr4:56822200-56873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:56822400-56865800	Weak transcription	Psoas Muscle	Psoas
19	chr4:56823600-56893800	Weak transcription	HMEC	breast
20	chr4:56825200-56865800	Weak transcription	Aorta	Aorta
21	chr4:56825600-56870000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:56828200-56884200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:56829200-56881400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:56829400-56865600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:56829600-56890600	Weak transcription	A549	lung
26	chr4:56832400-56865800	Weak transcription	Liver	Liver
27	chr4:56833000-56877200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
30	chr4:56838200-56865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:56839800-56896600	Weak transcription	Brain Angular Gyrus	brain
32	chr4:56840000-56865800	Weak transcription	Esophagus	oesophagus
33	chr4:56840200-56865800	Weak transcription	Fetal Brain Female	brain
34	chr4:56840200-56878000	Weak transcription	NHEK	skin
35	chr4:56840200-56884600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:56840600-56866600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:56842800-56890800	Weak transcription	Osteobl	bone
38	chr4:56844200-56891000	Weak transcription	Colonic Mucosa	Colon
39	chr4:56847000-56873800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:56847200-56891000	Weak transcription	Right Ventricle	heart
41	chr4:56847400-56864400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:56847600-56866400	Weak transcription	Placenta	Placenta
43	chr4:56848400-56859400	Weak transcription	HUVEC	blood vessel
44	chr4:56848400-56865400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:56848400-56865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:56848400-56865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:56848400-56865600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:56848600-56865600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:56848800-56864200	Weak transcription	NH-A	brain
50	chr4:56848800-56878000	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links