Variant report

Variant	esv3357737
Chromosome Location	chr2:113046581-113049879
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	chr2:113047656-113048146	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:113048979-113049662	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113032383..113034533-chr2:113048360..113050723,3	MCF-7	breast:
2	chr2:113031383..113033830-chr2:113044346..113047264,3	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: 213 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs138794662	chr2:113046602-113046603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376231696	chr2:113046620-113046621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116093610	chr2:113046639-113046640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532443613	chr2:113046640-113046641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554831454	chr2:113046646-113046647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78665908	chr2:113046657-113046658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79657756	chr2:113046663-113046664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116485384	chr2:113046664-113046665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77865676	chr2:113046676-113046677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543556053	chr2:113046708-113046709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72831695	chr2:113046727-113046728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72831697	chr2:113046733-113046734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576764905	chr2:113046736-113046737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138600906	chr2:113046751-113046752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149435141	chr2:113046803-113046804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs78455512	chr2:113046826-113046827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76738151	chr2:113046855-113046856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548355373	chr2:113046857-113046858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138242749	chr2:113046863-113046864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200080438	chr2:113046882-113046883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114008347	chr2:113046884-113046885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs144482138	chr2:113046894-113046895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150113655	chr2:113046904-113046905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139879757	chr2:113046905-113046906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76714211	chr2:113046914-113046915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575803678	chr2:113046927-113046928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75089290	chr2:113046933-113046934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544669423	chr2:113046940-113046941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561967589	chr2:113046962-113046963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76083658	chr2:113046963-113046964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370642724	chr2:113046964-113046965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550671461	chr2:113046965-113046966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74534132	chr2:113046970-113046971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78561811	chr2:113046994-113046995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570467889	chr2:113046999-113047000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139476329	chr2:113047046-113047047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371174544	chr2:113047047-113047048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77715989	chr2:113047051-113047052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565814437	chr2:113047055-113047056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77148895	chr2:113047093-113047094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183527554	chr2:113047116-113047117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554768009	chr2:113047119-113047120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111246413	chr2:113047123-113047124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77767233	chr2:113047126-113047127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574691647	chr2:113047137-113047138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537093724	chr2:113047144-113047145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557091693	chr2:113047153-113047154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs68017493	chr2:113047154-113047155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs72831700	chr2:113047214-113047215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576912969	chr2:113047223-113047224	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:62 , 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	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113035400-113047600	Weak transcription	Osteobl	bone
9	chr2:113035600-113047600	Weak transcription	NHDF-Ad	bronchial
10	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
11	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
13	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:113040000-113081800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:113040600-113054400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:113041200-113058600	Weak transcription	Fetal Heart	heart
19	chr2:113041400-113058600	Weak transcription	K562	blood
20	chr2:113041800-113047800	Weak transcription	Liver	Liver
21	chr2:113042400-113051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:113042600-113047600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:113045600-113051400	Weak transcription	Aorta	Aorta
24	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
25	chr2:113046200-113047800	Weak transcription	Fetal Kidney	kidney
26	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
27	chr2:113046600-113047600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
29	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
30	chr2:113047000-113048000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:113047200-113048600	Enhancers	HUVEC	blood vessel
32	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:113047400-113048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:113047400-113048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:113047600-113047800	Enhancers	NHDF-Ad	bronchial
36	chr2:113047600-113048000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:113047600-113048000	Enhancers	NH-A	brain
38	chr2:113047600-113048200	Enhancers	Osteobl	bone
39	chr2:113047600-113058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:113047800-113048000	ZNF genes & repeats	Fetal Kidney	kidney
41	chr2:113047800-113048000	Enhancers	Spleen	Spleen
42	chr2:113047800-113048200	Genic enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:113047800-113048600	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:113047800-113049000	Enhancers	Liver	Liver
45	chr2:113047800-113050400	Weak transcription	NHDF-Ad	bronchial
46	chr2:113048000-113048200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:113048000-113048400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:113048000-113048600	Enhancers	Brain Anterior Caudate	brain
49	chr2:113048000-113048600	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:113048000-113048600	Enhancers	Brain Substantia Nigra	brain

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