Variant report

Variant	esv3432268
Chromosome Location	chr4:47457495-47459443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47459303..47460947-chr4:47464140..47467077,2	K562	blood:
2	chr4:47455346..47457832-chr4:47566680..47568849,2	K562	blood:
3	chr4:47397863..47399973-chr4:47459020..47461928,2	K562	blood:

Variant related genes	Relation type
ENSG00000169019	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532122553	chr4:47457532-47457533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186565093	chr4:47457559-47457560	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570451610	chr4:47457606-47457607	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565759212	chr4:47457718-47457719	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189991521	chr4:47457722-47457723	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551147516	chr4:47457826-47457827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180904251	chr4:47457889-47457890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539343862	chr4:47457895-47457896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537949060	chr4:47457905-47457906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111470358	chr4:47457944-47457945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574732842	chr4:47457946-47457947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535774359	chr4:47458107-47458108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554415723	chr4:47458108-47458109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10028747	chr4:47458160-47458161	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372412241	chr4:47458189-47458190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577979525	chr4:47458217-47458218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113040054	chr4:47458284-47458285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374818717	chr4:47458285-47458286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77075303	chr4:47458307-47458308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191001660	chr4:47458315-47458316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111904511	chr4:47458317-47458318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61609530	chr4:47458318-47458319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376031068	chr4:47458319-47458320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558360121	chr4:47458332-47458333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576251448	chr4:47458400-47458401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543534259	chr4:47458431-47458432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73813541	chr4:47458471-47458472	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28664264	chr4:47458537-47458538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540984741	chr4:47458631-47458632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11541139	chr4:47458672-47458673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200625536	chr4:47458690-47458691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184044350	chr4:47458773-47458774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551211415	chr4:47458821-47458822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186944064	chr4:47458842-47458843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376814322	chr4:47458845-47458846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374089976	chr4:47458848-47458849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191923372	chr4:47458904-47458905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550199182	chr4:47458914-47458915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183244842	chr4:47458936-47458937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535804592	chr4:47458969-47458970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187261103	chr4:47458985-47458986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191671299	chr4:47458999-47459000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540133865	chr4:47459004-47459005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558429148	chr4:47459010-47459011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112702489	chr4:47459011-47459012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182384735	chr4:47459014-47459015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543175839	chr4:47459115-47459116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61480281	chr4:47459149-47459150	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186770515	chr4:47459178-47459179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574978937	chr4:47459230-47459231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19214233	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
4	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:47445400-47465000	Weak transcription	Lung	lung
6	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
7	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
9	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
10	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
11	chr4:47446600-47463000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:47447000-47461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
14	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
18	chr4:47450600-47464800	Weak transcription	A549	lung
19	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:47451000-47460800	Weak transcription	HMEC	breast
21	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:47451400-47458800	Strong transcription	Osteobl	bone
23	chr4:47451400-47462400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:47451400-47464000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:47451800-47458200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr4:47451800-47458200	Strong transcription	Dnd41	blood
27	chr4:47451800-47461800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:47451800-47462200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
30	chr4:47452000-47458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:47452000-47458200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:47452000-47459600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:47452000-47460200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:47452000-47461600	Strong transcription	Primary B cells from cord blood	blood
35	chr4:47452000-47464600	Weak transcription	K562	blood
36	chr4:47452200-47459400	Strong transcription	HSMM	muscle
37	chr4:47452400-47458200	Strong transcription	Adipose Nuclei	Adipose
38	chr4:47452400-47463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:47452400-47464000	Weak transcription	HepG2	liver
40	chr4:47452400-47464800	Weak transcription	Right Ventricle	heart
41	chr4:47452400-47465000	Weak transcription	Psoas Muscle	Psoas
42	chr4:47452600-47458000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:47452600-47464400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
45	chr4:47453000-47460600	Weak transcription	HUVEC	blood vessel
46	chr4:47453200-47457800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:47453600-47458000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:47453600-47458200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:47453600-47458200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:47453600-47459200	Strong transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links