Variant report

Variant	esv1821174
Chromosome Location	chr2:33762787-33768807
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	chr2:33766238-33766696	A549	lung:	n/a	n/a
3	CEBPB	chr2:33766311-33766635	A549	lung:	n/a	n/a
4	CEBPB	chr2:33766308-33766590	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:33766324-33766569	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:33766372-33766595	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:33766300-33766648	IMR90	lung:	n/a	n/a
8	CTCF	chr2:33767783-33767859	GM12891	blood:	n/a	n/a
9	CTCF	chr2:33767815-33767839	GM19238	blood:	n/a	n/a
10	CTCF	chr2:33767781-33767860	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:33767813-33767833	A549	lung:	n/a	n/a
12	CTCF	chr2:33767806-33767841	GM13977	blood:	n/a	n/a
13	CTCF	chr2:33767784-33767882	GM12892	blood:	n/a	n/a
14	CTCF	chr2:33767751-33767850	GM19240	blood:	n/a	n/a
15	CTCF	chr2:33767783-33767875	GM19239	blood:	n/a	n/a
16	CTCF	chr2:33767805-33767868	GM10266	blood:	n/a	n/a
17	EBF1	chr2:33765352-33765561	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
18	EBF1	chr2:33765310-33765559	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
19	JUND	chr2:33765313-33765749	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr2:33765224-33765705	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:33765386-33765659	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr2:33765283-33765727	H1-hESC	embryonic stem cell:	n/a	n/a
23	STAT3	chr2:33766355-33766605	MCF10A-Er-Src	breast:	n/a	chr2:33766488-33766499
24	STAT3	chr2:33766338-33766486	MCF10A-Er-Src	breast:	n/a	n/a
25	TAF1	chr2:33765389-33765697	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr2:33765321-33765740	H1-hESC	embryonic stem cell:	n/a	n/a
27	TEAD4	chr2:33765236-33765826	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr2:33765275-33765773	H1-hESC	embryonic stem cell:	n/a	n/a
29	WRNIP1	chr2:33765491-33765494	GM12878	blood:	n/a	n/a

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

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

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 259 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:259 , 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	rs536893092	chr2:33762889-33762890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181929075	chr2:33762932-33762933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576113269	chr2:33762935-33762936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149282556	chr2:33762937-33762938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17013237	chr2:33762963-33762964	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs116351027	chr2:33763000-33763001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144483362	chr2:33763033-33763034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561213795	chr2:33763039-33763040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375527408	chr2:33763055-33763056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529839828	chr2:33763127-33763128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543634710	chr2:33763146-33763147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562814495	chr2:33763209-33763210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531848378	chr2:33763212-33763213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551321814	chr2:33763224-33763225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571313459	chr2:33763226-33763227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115713789	chr2:33763279-33763280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547676995	chr2:33763332-33763333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567985138	chr2:33763348-33763349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556533050	chr2:33763357-33763358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536422030	chr2:33763367-33763368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556737873	chr2:33763388-33763389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369776983	chr2:33763402-33763403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571616335	chr2:33763422-33763423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575233653	chr2:33763429-33763430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551610981	chr2:33763484-33763485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4670189	chr2:33763497-33763498	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs4670190	chr2:33763519-33763520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs534460613	chr2:33763570-33763571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142067230	chr2:33763576-33763577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373349782	chr2:33763577-33763578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368153636	chr2:33763583-33763584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572067462	chr2:33763589-33763590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541067504	chr2:33763592-33763593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3083025	chr2:33763596-33763597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62149021	chr2:33763714-33763715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77000837	chr2:33763743-33763744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145986167	chr2:33763783-33763784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186344927	chr2:33763803-33763804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563508083	chr2:33763831-33763832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531648710	chr2:33763832-33763833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545097688	chr2:33763856-33763857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565081095	chr2:33763903-33763904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7609546	chr2:33763947-33763948	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs547417875	chr2:33763973-33763974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561392724	chr2:33763978-33763979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142218534	chr2:33764000-33764001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550062929	chr2:33764006-33764007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570231964	chr2:33764020-33764021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539286133	chr2:33764048-33764049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552291028	chr2:33764054-33764055	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
10	chr2:33755200-33762800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:33755200-33767800	Weak transcription	Liver	Liver
12	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:33757200-33765400	Weak transcription	Right Atrium	heart
15	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:33757600-33765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:33759000-33765000	Strong transcription	Primary B cells from cord blood	blood
18	chr2:33759000-33765800	Strong transcription	GM12878-XiMat	blood
19	chr2:33759000-33766600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:33761000-33765400	Weak transcription	NHDF-Ad	bronchial
23	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:33761200-33764200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:33761200-33768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:33761200-33771000	Weak transcription	Right Ventricle	heart
27	chr2:33761200-33774200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
29	chr2:33762000-33764200	Weak transcription	Fetal Heart	heart
30	chr2:33762000-33765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33762000-33780200	Weak transcription	Ovary	ovary
32	chr2:33762200-33762800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:33762200-33772200	Weak transcription	Left Ventricle	heart
34	chr2:33762200-33775800	Weak transcription	Lung	lung
35	chr2:33762200-33777800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:33762200-33779400	Weak transcription	Spleen	Spleen
37	chr2:33762200-33779600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
39	chr2:33762600-33774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:33762800-33763200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr2:33762800-33763600	Strong transcription	Brain Hippocampus Middle	brain
42	chr2:33763200-33780200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:33763600-33763800	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:33763800-33765600	Strong transcription	Brain Hippocampus Middle	brain
45	chr2:33764200-33764400	Enhancers	Fetal Heart	heart
46	chr2:33764200-33764800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:33764400-33764800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:33764400-33764800	Weak transcription	Fetal Heart	heart
49	chr2:33764400-33765800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:33764400-33765800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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