Variant report

Variant	esv1846592
Chromosome Location	chr2:33761727-33772478
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	CEBPB	chr2:33766283-33766515	K562	blood:	n/a	n/a
2	CEBPB	chr2:33766372-33766595	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:33766324-33766569	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:33766311-33766635	A549	lung:	n/a	n/a
5	CEBPB	chr2:33766238-33766696	A549	lung:	n/a	n/a
6	CEBPB	chr2:33766308-33766590	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:33770526-33770700	HepG2	liver:	n/a	chr2:33770605-33770616
8	CEBPB	chr2:33766300-33766648	IMR90	lung:	n/a	n/a
9	CTCF	chr2:33767813-33767833	A549	lung:	n/a	n/a
10	CTCF	chr2:33767781-33767860	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:33767784-33767882	GM12892	blood:	n/a	n/a
12	CTCF	chr2:33767815-33767839	GM19238	blood:	n/a	n/a
13	CTCF	chr2:33767783-33767875	GM19239	blood:	n/a	n/a
14	CTCF	chr2:33767783-33767859	GM12891	blood:	n/a	n/a
15	CTCF	chr2:33771008-33771038	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr2:33767806-33767841	GM13977	blood:	n/a	n/a
17	CTCF	chr2:33767805-33767868	GM10266	blood:	n/a	n/a
18	CTCF	chr2:33767751-33767850	GM19240	blood:	n/a	n/a
19	EBF1	chr2:33765310-33765559	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
20	EBF1	chr2:33765352-33765561	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
21	JUND	chr2:33765313-33765749	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:33765224-33765705	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:33765386-33765659	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr2:33761711-33762106	GM12878	blood:	n/a	n/a
25	SP1	chr2:33765283-33765727	H1-hESC	embryonic stem cell:	n/a	n/a
26	STAT3	chr2:33766338-33766486	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr2:33766355-33766605	MCF10A-Er-Src	breast:	n/a	chr2:33766488-33766499
28	STAT3	chr2:33769567-33769739	MCF10A-Er-Src	breast:	n/a	n/a
29	TAF1	chr2:33765321-33765740	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr2:33765389-33765697	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr2:33765236-33765826	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr2:33765275-33765773	H1-hESC	embryonic stem cell:	n/a	n/a
33	WRNIP1	chr2:33765491-33765494	GM12878	blood:	n/a	n/a
34	ZNF384	chr2:33772264-33772628	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:33767282..33768981-chr2:33771386..33773954,3	K562	blood:
2	chr2:33756995..33759819-chr2:33761668..33764619,2	MCF-7	breast:
3	chr2:33767282..33768981-chr2:33771386..33773954,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTBP1-2	chr2:33764718-33765175	NONHSAT070017
2	lnc-LTBP1-2	chr2:33768579-33768694	NONHSAT070017

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 478 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541049746	chr2:33761734-33761735	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575543029	chr2:33761740-33761741	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13423017	chr2:33761850-33761851	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs377522140	chr2:33761856-33761857	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184535747	chr2:33761918-33761919	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533122640	chr2:33761922-33761923	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs188250026	chr2:33761924-33761925	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs539717663	chr2:33761939-33761940	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534099237	chr2:33761949-33761950	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs553961667	chr2:33761955-33761956	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34591523	chr2:33761998-33761999	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573643428	chr2:33762019-33762020	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77316956	chr2:33762037-33762038	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552678092	chr2:33762053-33762054	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368121302	chr2:33762112-33762113	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150089298	chr2:33762121-33762122	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575940030	chr2:33762128-33762129	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545021679	chr2:33762135-33762136	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371755862	chr2:33762150-33762151	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565153126	chr2:33762158-33762159	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553182340	chr2:33762259-33762260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs146363205	chr2:33762260-33762261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113536892	chr2:33762277-33762278	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138381231	chr2:33762320-33762321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs191156908	chr2:33762332-33762333	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs71409627	chr2:33762376-33762377	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs6543721	chr2:33762390-33762391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200369564	chr2:33762393-33762394	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs61435746	chr2:33762395-33762396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369738936	chr2:33762396-33762397	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149899270	chr2:33762397-33762398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561773246	chr2:33762414-33762415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs57857739	chr2:33762434-33762435	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs397955089	chr2:33762445-33762446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183578394	chr2:33762461-33762462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs189707717	chr2:33762462-33762463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13426291	chr2:33762484-33762485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373636574	chr2:33762528-33762529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569373419	chr2:33762586-33762587	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543939849	chr2:33762587-33762588	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs551385083	chr2:33762618-33762619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181340963	chr2:33762653-33762654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186946545	chr2:33762658-33762659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190075632	chr2:33762692-33762693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112660712	chr2:33762710-33762711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59368545	chr2:33762715-33762716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71409628	chr2:33762717-33762718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62149020	chr2:33762729-33762730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567757471	chr2:33762745-33762746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536893092	chr2:33762889-33762890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
3	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:33747400-33761800	Weak transcription	Aorta	Aorta
8	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:33748000-33761800	Weak transcription	Fetal Stomach	stomach
10	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:33754200-33761800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
15	chr2:33755200-33762800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:33755200-33767800	Weak transcription	Liver	Liver
17	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:33757200-33765400	Weak transcription	Right Atrium	heart
20	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:33757400-33761800	Weak transcription	Ovary	ovary
22	chr2:33757600-33761800	Weak transcription	Lung	lung
23	chr2:33757600-33765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:33757800-33761800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:33759000-33765000	Strong transcription	Primary B cells from cord blood	blood
26	chr2:33759000-33765800	Strong transcription	GM12878-XiMat	blood
27	chr2:33759000-33766600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:33760200-33762000	Enhancers	Fetal Heart	heart
29	chr2:33760800-33762600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:33761000-33761800	Weak transcription	Adipose Nuclei	Adipose
33	chr2:33761000-33765400	Weak transcription	NHDF-Ad	bronchial
34	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:33761200-33761800	Weak transcription	Left Ventricle	heart
36	chr2:33761200-33764200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:33761200-33768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:33761200-33771000	Weak transcription	Right Ventricle	heart
39	chr2:33761200-33774200	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
41	chr2:33761400-33761800	Strong transcription	Brain Hippocampus Middle	brain
42	chr2:33761600-33762200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:33761800-33762000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:33761800-33762000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr2:33761800-33762000	ZNF genes & repeats	Ovary	ovary
46	chr2:33761800-33762200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr2:33761800-33762200	ZNF genes & repeats	Aorta	Aorta
48	chr2:33761800-33762200	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr2:33761800-33762200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:33761800-33762200	ZNF genes & repeats	Left Ventricle	heart

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