Variant report

Variant	esv1821302
Chromosome Location	chr2:113041461-113053061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:113044062-113044085	A549	lung:	n/a	n/a
2	CTCF	chr2:113043020-113043059	GM10248	blood:	n/a	n/a
3	CTCF	chr2:113042119-113042155	Medullo	brain:	n/a	n/a
4	CTCF	chr2:113051165-113051259	GM10248	blood:	n/a	n/a
5	CTCF	chr2:113041930-113042054	GM10248	blood:	n/a	n/a
6	CTCF	chr2:113042167-113042197	Medullo	brain:	n/a	n/a
7	FOS	chr2:113047644-113048174	HUVEC	blood vessel:	n/a	n/a
8	FOXA2	chr2:113047778-113048013	HepG2	liver:	n/a	n/a
9	GATA2	chr2:113047658-113048118	HUVEC	blood vessel:	n/a	n/a
10	MAFF	chr2:113051260-113051565	HepG2	liver:	n/a	chr2:113051408-113051426
11	MAFF	chr2:113051298-113051551	K562	blood:	n/a	chr2:113051408-113051426
12	MAFK	chr2:113051243-113051582	HepG2	liver:	n/a	n/a
13	MAFK	chr2:113051275-113051562	HepG2	liver:	n/a	n/a
14	MAFK	chr2:113051382-113051477	K562	blood:	n/a	n/a
15	MAFK	chr2:113051254-113051571	IMR90	lung:	n/a	n/a
16	POLR2A	chr2:113048979-113049662	K562	blood:	n/a	n/a
17	POLR2A	chr2:113044567-113044641	K562	blood:	n/a	n/a
18	POLR2A	chr2:113050052-113050304	K562	blood:	n/a	n/a
19	POLR2A	chr2:113051945-113052102	K562	blood:	n/a	n/a
20	POLR2A	chr2:113047656-113048146	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:113045271-113045432	K562	blood:	n/a	n/a
22	POLR2A	chr2:113050579-113050747	K562	blood:	n/a	n/a
23	POLR2A	chr2:113046366-113046460	K562	blood:	n/a	n/a
24	POLR2A	chr2:113052368-113052369	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113033844..113035666-chr2:113048299..113050198,2	K562	blood:
2	chr2:113033406..113035209-chr2:113052659..113055582,2	K562	blood:
3	chr2:113033709..113035506-chr2:113052735..113055582,2	K562	blood:
4	chr2:113031677..113034717-chr2:113042895..113047019,4	K562	blood:
5	chr2:113032383..113034533-chr2:113048360..113050723,3	MCF-7	breast:
6	chr2:113052733..113055599-chr2:113064270..113066173,2	MCF-7	breast:
7	chr2:113031383..113033830-chr2:113044346..113047264,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZC3H8-1	chr2:113043634-113043999	NONHSAT073689

No data

Variant related genes	Relation type
ENSG00000235258	TF binding region
ZC3H6	TF binding region
ENSG00000188177	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10165123	chr2:113041461-113041462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572941455	chr2:113041473-113041474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541450696	chr2:113041481-113041482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561751075	chr2:113041547-113041548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188737354	chr2:113041579-113041580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4446076	chr2:113041581-113041582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs181383448	chr2:113041596-113041597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559847041	chr2:113041639-113041640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186004602	chr2:113041642-113041643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547217106	chr2:113041674-113041675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560370828	chr2:113041733-113041734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13399015	chr2:113041737-113041738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5833442	chr2:113041741-113041742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529420221	chr2:113041848-113041849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190816739	chr2:113041879-113041880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183331480	chr2:113041931-113041932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201151618	chr2:113041944-113041945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537309383	chr2:113041999-113042000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550905102	chr2:113042094-113042095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372718861	chr2:113042144-113042145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528583055	chr2:113042154-113042155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539643355	chr2:113042234-113042235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71414635	chr2:113042261-113042262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187209036	chr2:113042262-113042263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551811636	chr2:113042345-113042346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190838559	chr2:113042352-113042353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572837403	chr2:113042373-113042374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376518765	chr2:113042420-113042421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6542050	chr2:113042446-113042447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs555028711	chr2:113042469-113042470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6716010	chr2:113042487-113042488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs559519881	chr2:113042558-113042559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144965846	chr2:113042614-113042615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558023825	chr2:113042644-113042645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138159236	chr2:113042694-113042695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182642519	chr2:113042775-113042776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560763125	chr2:113042787-113042788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188138018	chr2:113042823-113042824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141106606	chr2:113042935-113042936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543126415	chr2:113042937-113042938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562831872	chr2:113042940-113042941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79650630	chr2:113042952-113042953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531742194	chr2:113043027-113043028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6745942	chr2:113043046-113043047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201779902	chr2:113043050-113043051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570751279	chr2:113043056-113043057	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191625827	chr2:113043073-113043074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536886384	chr2:113043085-113043086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553287356	chr2:113043095-113043096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566674036	chr2:113043107-113043108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034200-113058200	Weak transcription	Ovary	ovary
2	chr2:113034400-113047800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:113034400-113051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
5	chr2:113035000-113046000	Weak transcription	Fetal Kidney	kidney
6	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:113035400-113047600	Weak transcription	Osteobl	bone
10	chr2:113035600-113047600	Weak transcription	NHDF-Ad	bronchial
11	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
14	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:113040000-113041800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:113040000-113041800	Enhancers	Liver	Liver
19	chr2:113040000-113081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:113040200-113041800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:113040600-113041600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:113040600-113054400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:113041200-113041800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:113041200-113041800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:113041200-113058600	Weak transcription	Fetal Heart	heart
26	chr2:113041400-113041800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:113041400-113058600	Weak transcription	K562	blood
28	chr2:113041600-113042400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:113041800-113042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:113041800-113047800	Weak transcription	Liver	Liver
31	chr2:113042200-113042400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:113042400-113042600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:113042400-113051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:113042600-113047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:113043000-113044200	Enhancers	Pancreas	Pancrea
36	chr2:113045600-113051400	Weak transcription	Aorta	Aorta
37	chr2:113045800-113046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:113045800-113046200	Enhancers	Thymus	Thymus
39	chr2:113046000-113046200	ZNF genes & repeats	Fetal Kidney	kidney
40	chr2:113046000-113046200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
42	chr2:113046200-113047800	Weak transcription	Fetal Kidney	kidney
43	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
44	chr2:113046600-113047600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
46	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
47	chr2:113047000-113048000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:113047200-113048600	Enhancers	HUVEC	blood vessel
49	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:113047400-113048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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