Variant report

Variant	esv1793054
Chromosome Location	chr2:113045654-113048705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:113047644-113048174	HUVEC	blood vessel:	n/a	n/a
2	FOXA2	chr2:113047778-113048013	HepG2	liver:	n/a	n/a
3	GATA2	chr2:113047658-113048118	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr2:113046366-113046460	K562	blood:	n/a	n/a
5	POLR2A	chr2:113047656-113048146	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113031383..113033830-chr2:113044346..113047264,3	MCF-7	breast:
2	chr2:113032383..113034533-chr2:113048360..113050723,3	MCF-7	breast:
3	chr2:113033844..113035666-chr2:113048299..113050198,2	K562	blood:
4	chr2:113031677..113034717-chr2:113042895..113047019,4	K562	blood:

No data

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

Extended variants
information (count: 202 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13394273	chr2:113045654-113045655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs185006032	chr2:113045715-113045716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554771541	chr2:113045740-113045741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35202373	chr2:113045784-113045785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138683748	chr2:113045785-113045786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs397963632	chr2:113045796-113045797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13429542	chr2:113045801-113045802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs189905972	chr2:113045819-113045820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13403322	chr2:113045824-113045825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs537040719	chr2:113045850-113045851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556972708	chr2:113045888-113045889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148250093	chr2:113045907-113045908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114084308	chr2:113045927-113045928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572156652	chr2:113045944-113045945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570992403	chr2:113045947-113045948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6715639	chr2:113045950-113045951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150343734	chr2:113045981-113045982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543418284	chr2:113045986-113045987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138046630	chr2:113046001-113046002	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563292396	chr2:113046009-113046010	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532819009	chr2:113046011-113046012	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573217095	chr2:113046012-113046013	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536696315	chr2:113046046-113046047	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552602903	chr2:113046048-113046049	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10184385	chr2:113046066-113046067	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
26	rs10208683	chr2:113046093-113046094	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573263690	chr2:113046131-113046132	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143513580	chr2:113046132-113046133	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10176247	chr2:113046151-113046152	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs10184501	chr2:113046185-113046186	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs34740964	chr2:113046194-113046195	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201765985	chr2:113046197-113046198	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540625728	chr2:113046328-113046329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386649226	chr2:113046331-113046332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10186991	chr2:113046332-113046333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs182502657	chr2:113046359-113046360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371405096	chr2:113046360-113046361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537177799	chr2:113046381-113046382	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550532627	chr2:113046387-113046388	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs148036908	chr2:113046403-113046404	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10211300	chr2:113046409-113046410	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs62158756	chr2:113046443-113046444	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
43	rs538886629	chr2:113046452-113046453	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558569183	chr2:113046463-113046464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79672685	chr2:113046511-113046512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572344758	chr2:113046512-113046513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76691861	chr2:113046519-113046520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs72831694	chr2:113046550-113046551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534502064	chr2:113046551-113046552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375528986	chr2:113046555-113046556	Weak transcription	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:66 , 50 per page) page: 1 2

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	chr2:113040000-113081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113040600-113054400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:113041200-113058600	Weak transcription	Fetal Heart	heart
20	chr2:113041400-113058600	Weak transcription	K562	blood
21	chr2:113041800-113047800	Weak transcription	Liver	Liver
22	chr2:113042400-113051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113042600-113047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:113045600-113051400	Weak transcription	Aorta	Aorta
25	chr2:113045800-113046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:113045800-113046200	Enhancers	Thymus	Thymus
27	chr2:113046000-113046200	ZNF genes & repeats	Fetal Kidney	kidney
28	chr2:113046000-113046200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
30	chr2:113046200-113047800	Weak transcription	Fetal Kidney	kidney
31	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
32	chr2:113046600-113047600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
34	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
35	chr2:113047000-113048000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:113047200-113048600	Enhancers	HUVEC	blood vessel
37	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:113047400-113048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:113047400-113048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:113047600-113047800	Enhancers	NHDF-Ad	bronchial
41	chr2:113047600-113048000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:113047600-113048000	Enhancers	NH-A	brain
43	chr2:113047600-113048200	Enhancers	Osteobl	bone
44	chr2:113047600-113058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:113047800-113048000	ZNF genes & repeats	Fetal Kidney	kidney
46	chr2:113047800-113048000	Enhancers	Spleen	Spleen
47	chr2:113047800-113048200	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr2:113047800-113048600	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:113047800-113049000	Enhancers	Liver	Liver
50	chr2:113047800-113050400	Weak transcription	NHDF-Ad	bronchial

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