Variant report

Variant	esv1816512
Chromosome Location	chr5:70834892-70837492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr5:70837029-70837119	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFF	chr5:70836857-70837047	K562	blood:	n/a	n/a
3	MAFK	chr5:70835325-70835465	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr5:70836827-70837095	HepG2	liver:	n/a	chr5:70836942-70836956 chr5:70836944-70836955 chr5:70836944-70836955 chr5:70836943-70836954 chr5:70836943-70836954
5	MAFK	chr5:70836888-70837088	K562	blood:	n/a	chr5:70836942-70836956 chr5:70836944-70836955 chr5:70836944-70836955 chr5:70836943-70836954 chr5:70836943-70836954
6	POLR2A	chr5:70835209-70835247	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:70836598-70836698	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70779922..70782030-chr5:70836622..70838928,2	K562	blood:

Variant related genes	Relation type
HMGN1P12	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35131626	chr5:70834892-70834893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs372949850	chr5:70834895-70834896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201357054	chr5:70834916-70834917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs276589	chr5:70834926-70834927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs201983414	chr5:70834953-70834954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183373509	chr5:70835042-70835043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569005609	chr5:70835060-70835061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75933082	chr5:70835092-70835093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554574073	chr5:70835181-70835182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148948406	chr5:70835204-70835205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555130200	chr5:70835206-70835207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3827776	chr5:70835207-70835208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7726942	chr5:70835252-70835253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188775975	chr5:70835262-70835263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545138165	chr5:70835288-70835289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192702740	chr5:70835301-70835302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376665178	chr5:70835342-70835343	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531022512	chr5:70835369-70835370	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201678552	chr5:70835389-70835390	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371608018	chr5:70835440-70835441	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543272596	chr5:70835443-70835444	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376037416	chr5:70835457-70835458	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561445936	chr5:70835467-70835468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377472420	chr5:70835501-70835502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528822730	chr5:70835507-70835508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546607219	chr5:70835514-70835515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535382965	chr5:70835567-70835568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147063853	chr5:70835620-70835621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200291879	chr5:70835629-70835630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147657019	chr5:70835635-70835636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573397064	chr5:70835643-70835644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375909077	chr5:70835702-70835703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs396463	chr5:70835708-70835709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375701	chr5:70835725-70835726	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373867959	chr5:70835731-70835732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377434065	chr5:70835811-70835812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568990938	chr5:70835817-70835818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540698237	chr5:70835827-70835828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115789541	chr5:70835901-70835902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554818108	chr5:70835914-70835915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566631741	chr5:70835985-70835986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533869141	chr5:70835993-70835994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7721179	chr5:70836007-70836008	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs36192652	chr5:70836107-70836108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78137458	chr5:70836110-70836111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369629003	chr5:70836117-70836118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115418499	chr5:70836125-70836126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372548677	chr5:70836126-70836127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146461178	chr5:70836148-70836149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148371449	chr5:70836184-70836185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70777600-70837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
3	chr5:70799400-70840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:70799800-70838800	Weak transcription	Spleen	Spleen
5	chr5:70801800-70839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:70805800-70844600	Weak transcription	Gastric	stomach
7	chr5:70820000-70839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:70820200-70837400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:70820200-70838400	Weak transcription	Aorta	Aorta
10	chr5:70820200-70838800	Weak transcription	Pancreas	Pancrea
11	chr5:70820200-70838800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:70820200-70839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:70820200-70839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:70820200-70841200	Weak transcription	Colonic Mucosa	Colon
15	chr5:70820200-70841200	Weak transcription	Esophagus	oesophagus
16	chr5:70820200-70841200	Weak transcription	Right Ventricle	heart
17	chr5:70820200-70841400	Weak transcription	HSMMtube	muscle
18	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
19	chr5:70820400-70838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:70820400-70838200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:70820400-70838200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:70820400-70838800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:70820400-70839000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:70820400-70839200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:70820400-70845800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:70821000-70839200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:70822000-70847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:70822600-70845800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:70822600-70847400	Strong transcription	Dnd41	blood
30	chr5:70823200-70847200	Strong transcription	Primary T cells from cord blood	blood
31	chr5:70824000-70836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:70824400-70837600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:70825000-70846600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
36	chr5:70827000-70836400	Weak transcription	Left Ventricle	heart
37	chr5:70827600-70836000	Strong transcription	NHEK	skin
38	chr5:70827600-70847400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:70827600-70847400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:70827600-70864400	Strong transcription	Liver	Liver
41	chr5:70827800-70846600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:70827800-70847400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:70828000-70836000	Strong transcription	A549	lung
44	chr5:70828000-70844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:70828000-70847200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:70828000-70847600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:70829000-70838000	Weak transcription	Brain Germinal Matrix	brain
48	chr5:70829400-70847600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:70829600-70837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:70829600-70838800	Weak transcription	NHLF	lung

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