Variant report

Variant	esv1825472
Chromosome Location	chr2:33758456-33766808
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	chr2:33766324-33766569	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:33766308-33766590	H1-hESC	embryonic stem cell:	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	chr2:33766300-33766648	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:33766372-33766595	Hela-S3	cervix:	n/a	n/a
8	EBF1	chr2:33765352-33765561	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
9	EBF1	chr2:33765310-33765559	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
10	JUND	chr2:33765313-33765749	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr2:33759775-33759975	HepG2	liver:	n/a	chr2:33759886-33759897
12	MAFK	chr2:33759144-33759187	HepG2	liver:	n/a	chr2:33759155-33759170
13	MAX	chr2:33760474-33760899	SK-N-SH	brain:	n/a	chr2:33760773-33760784 chr2:33760774-33760783 chr2:33760774-33760783 chr2:33760774-33760783 chr2:33760773-33760783
14	MAX	chr2:33758712-33758727	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:33765386-33765659	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:33759957-33760251	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:33760599-33761056	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:33765224-33765705	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:33761711-33762106	GM12878	blood:	n/a	n/a
20	SP1	chr2:33765283-33765727	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr2:33766355-33766605	MCF10A-Er-Src	breast:	n/a	chr2:33766488-33766499
22	STAT3	chr2:33766338-33766486	MCF10A-Er-Src	breast:	n/a	n/a
23	TAF1	chr2:33765321-33765740	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr2:33765389-33765697	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr2:33765236-33765826	H1-hESC	embryonic stem cell:	n/a	n/a
26	TEAD4	chr2:33765275-33765773	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF1	chr2:33760505-33760842	SK-N-SH_RA	brain:	n/a	n/a
28	USF1	chr2:33760487-33760849	SK-N-SH_RA	brain:	n/a	n/a
29	USF1	chr2:33760507-33760892	SK-N-SH	brain:	n/a	n/a
30	USF1	chr2:33760562-33760796	K562	blood:	n/a	n/a
31	WRNIP1	chr2:33765491-33765494	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:33756995..33759819-chr2:33761668..33764619,2	MCF-7	breast:
2	chr2:33756995..33759819-chr2:33761668..33764619,2	MCF-7	breast:
3	chr2:33756872..33758889-chr2:37458168..37460759,2	K562	blood:

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

Variant related genes	Relation type
RASGRP3	TF binding region
ENSG00000115816	chromatin interactions
ENSG00000003509	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1378726	chr2:33758456-33758457	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148116949	chr2:33758530-33758531	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559140029	chr2:33758531-33758532	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527738629	chr2:33758537-33758538	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541130327	chr2:33758580-33758581	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150245897	chr2:33758590-33758591	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185738021	chr2:33758624-33758625	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550180750	chr2:33758679-33758680	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6726524	chr2:33758693-33758694	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532859591	chr2:33758698-33758699	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56197103	chr2:33758737-33758738	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566281112	chr2:33758752-33758753	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190512733	chr2:33758798-33758799	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182288447	chr2:33758811-33758812	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568198691	chr2:33758863-33758864	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536620574	chr2:33758908-33758909	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560233790	chr2:33758942-33758943	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556938501	chr2:33758957-33758958	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577029946	chr2:33758991-33758992	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115144280	chr2:33759056-33759057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368015958	chr2:33759064-33759065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555599167	chr2:33759115-33759116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183788968	chr2:33759119-33759120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7605981	chr2:33759129-33759130	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs574901624	chr2:33759153-33759154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576861040	chr2:33759159-33759160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187996592	chr2:33759186-33759187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563716018	chr2:33759231-33759232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532651384	chr2:33759267-33759268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552903491	chr2:33759271-33759272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143356039	chr2:33759291-33759292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376707520	chr2:33759333-33759334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181220802	chr2:33759334-33759335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367669001	chr2:33759352-33759353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185366416	chr2:33759358-33759359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376849574	chr2:33759362-33759363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17013236	chr2:33759370-33759371	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35933402	chr2:33759395-33759396	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs147532558	chr2:33759410-33759411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550267818	chr2:33759419-33759420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111444787	chr2:33759482-33759483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190561643	chr2:33759520-33759521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201241640	chr2:33759525-33759526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181860980	chr2:33759539-33759540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572834776	chr2:33759562-33759563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74326828	chr2:33759563-33759564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568926597	chr2:33759564-33759565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35738465	chr2:33759573-33759574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7594196	chr2:33759601-33759602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543906059	chr2:33759604-33759605	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:151 , 50 per page) page: 1 2 3 4

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	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:33747400-33761800	Weak transcription	Aorta	Aorta
9	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
10	chr2:33748000-33761800	Weak transcription	Fetal Stomach	stomach
11	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:33753000-33760600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:33754200-33760400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:33754200-33761800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
18	chr2:33755200-33762800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:33755200-33767800	Weak transcription	Liver	Liver
20	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:33756200-33759000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr2:33756400-33759200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:33756600-33758800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:33757000-33758600	Enhancers	Primary B cells from cord blood	blood
25	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:33757200-33759000	Genic enhancers	GM12878-XiMat	blood
27	chr2:33757200-33760200	Weak transcription	Brain Substantia Nigra	brain
28	chr2:33757200-33760400	Weak transcription	HSMMtube	muscle
29	chr2:33757200-33760600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:33757200-33760600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:33757200-33760800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:33757200-33760800	Weak transcription	Right Ventricle	heart
33	chr2:33757200-33765400	Weak transcription	Right Atrium	heart
34	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:33757400-33760400	Weak transcription	HSMM	muscle
36	chr2:33757400-33760600	Weak transcription	Left Ventricle	heart
37	chr2:33757400-33761800	Weak transcription	Ovary	ovary
38	chr2:33757600-33758600	Enhancers	Fetal Heart	heart
39	chr2:33757600-33758800	Enhancers	Psoas Muscle	Psoas
40	chr2:33757600-33761800	Weak transcription	Lung	lung
41	chr2:33757600-33765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:33757800-33760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:33757800-33760400	Weak transcription	NHDF-Ad	bronchial
44	chr2:33757800-33761800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:33758200-33758600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr2:33758400-33760200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:33758600-33758800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr2:33758600-33759000	Genic enhancers	Primary B cells from cord blood	blood
49	chr2:33758600-33760200	Weak transcription	Fetal Heart	heart
50	chr2:33758800-33760200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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