Variant report

Variant	esv3460331
Chromosome Location	chr2:113043881-113048279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 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	FOS	chr2:113047644-113048174	HUVEC	blood vessel:	n/a	n/a
3	FOXA2	chr2:113047778-113048013	HepG2	liver:	n/a	n/a
4	GATA2	chr2:113047658-113048118	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:113047656-113048146	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:113044567-113044641	K562	blood:	n/a	n/a
7	POLR2A	chr2:113046366-113046460	K562	blood:	n/a	n/a
8	POLR2A	chr2:113045271-113045432	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113031383..113033830-chr2:113044346..113047264,3	MCF-7	breast:
2	chr2:113031677..113034717-chr2:113042895..113047019,4	K562	blood:

(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
ENSG00000188177	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10177573	chr2:113043940-113043941	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374612637	chr2:113043943-113043944	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs565238177	chr2:113043944-113043945	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs200980472	chr2:113043950-113043951	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs114817548	chr2:113043990-113043991	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs192618409	chr2:113043994-113043995	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs560383695	chr2:113044005-113044006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567443731	chr2:113044016-113044017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528061008	chr2:113044024-113044025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529205578	chr2:113044025-113044026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548742455	chr2:113044039-113044040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534761022	chr2:113044041-113044042	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201802088	chr2:113044054-113044055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562361596	chr2:113044067-113044068	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559296670	chr2:113044076-113044077	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551074014	chr2:113044086-113044087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184258019	chr2:113044089-113044090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11679986	chr2:113044101-113044102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs372389842	chr2:113044106-113044107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547118959	chr2:113044115-113044116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375627592	chr2:113044123-113044124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567934042	chr2:113044141-113044142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113428223	chr2:113044159-113044160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565357279	chr2:113044172-113044173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576719140	chr2:113044203-113044204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530964621	chr2:113044215-113044216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188393313	chr2:113044221-113044222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577844433	chr2:113044232-113044233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201982571	chr2:113044239-113044240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181263002	chr2:113044262-113044263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369827812	chr2:113044263-113044264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184315064	chr2:113044287-113044288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116045903	chr2:113044296-113044297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139340875	chr2:113044322-113044323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562303862	chr2:113044323-113044324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545187412	chr2:113044333-113044334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531408112	chr2:113044338-113044339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551211590	chr2:113044355-113044356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564985614	chr2:113044372-113044373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188901631	chr2:113044383-113044384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181726550	chr2:113044418-113044419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547347591	chr2:113044437-113044438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567174515	chr2:113044550-113044551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200033941	chr2:113044553-113044554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200989879	chr2:113044603-113044604	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536912457	chr2:113044620-113044621	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550496906	chr2:113044627-113044628	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113017825	chr2:113044713-113044714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71414636	chr2:113044719-113044720	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs530330510	chr2:113044802-113044803	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:61 , 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	chr2:113043000-113044200	Enhancers	Pancreas	Pancrea
25	chr2:113045600-113051400	Weak transcription	Aorta	Aorta
26	chr2:113045800-113046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:113045800-113046200	Enhancers	Thymus	Thymus
28	chr2:113046000-113046200	ZNF genes & repeats	Fetal Kidney	kidney
29	chr2:113046000-113046200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:113046000-113052600	Weak transcription	Fetal Lung	lung
31	chr2:113046200-113047800	Weak transcription	Fetal Kidney	kidney
32	chr2:113046200-113057800	Weak transcription	Thymus	Thymus
33	chr2:113046600-113047600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:113046600-113079800	Weak transcription	Fetal Stomach	stomach
35	chr2:113046800-113065000	Weak transcription	HSMMtube	muscle
36	chr2:113047000-113048000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:113047200-113048600	Enhancers	HUVEC	blood vessel
38	chr2:113047200-113058200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:113047400-113048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:113047400-113048600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:113047600-113047800	Enhancers	NHDF-Ad	bronchial
42	chr2:113047600-113048000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:113047600-113048000	Enhancers	NH-A	brain
44	chr2:113047600-113048200	Enhancers	Osteobl	bone
45	chr2:113047600-113058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:113047800-113048000	ZNF genes & repeats	Fetal Kidney	kidney
47	chr2:113047800-113048000	Enhancers	Spleen	Spleen
48	chr2:113047800-113048200	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:113047800-113048600	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:113047800-113049000	Enhancers	Liver	Liver

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