Variant report

Variant	esv1821368
Chromosome Location	chr2:33764571-33772478
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	chr2:33766372-33766595	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr2:33766238-33766696	A549	lung:	n/a	n/a
3	CEBPB	chr2:33766308-33766590	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:33766324-33766569	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:33766311-33766635	A549	lung:	n/a	n/a
6	CEBPB	chr2:33770526-33770700	HepG2	liver:	n/a	chr2:33770605-33770616
7	CEBPB	chr2:33766283-33766515	K562	blood:	n/a	n/a
8	CEBPB	chr2:33766300-33766648	IMR90	lung:	n/a	n/a
9	CTCF	chr2:33767781-33767860	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:33767783-33767875	GM19239	blood:	n/a	n/a
11	CTCF	chr2:33771008-33771038	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr2:33767805-33767868	GM10266	blood:	n/a	n/a
13	CTCF	chr2:33767783-33767859	GM12891	blood:	n/a	n/a
14	CTCF	chr2:33767784-33767882	GM12892	blood:	n/a	n/a
15	CTCF	chr2:33767751-33767850	GM19240	blood:	n/a	n/a
16	CTCF	chr2:33767813-33767833	A549	lung:	n/a	n/a
17	CTCF	chr2:33767815-33767839	GM19238	blood:	n/a	n/a
18	CTCF	chr2:33767806-33767841	GM13977	blood:	n/a	n/a
19	EBF1	chr2:33765352-33765561	GM12878	blood:	n/a	chr2:33765464-33765477 chr2:33765466-33765475 chr2:33765464-33765475 chr2:33765465-33765475 chr2:33765466-33765475
20	EBF1	chr2:33765310-33765559	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	SP1	chr2:33765283-33765727	H1-hESC	embryonic stem cell:	n/a	n/a
25	STAT3	chr2:33769567-33769739	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr2:33766355-33766605	MCF10A-Er-Src	breast:	n/a	chr2:33766488-33766499
27	STAT3	chr2:33766338-33766486	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr2:33765321-33765740	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr2:33765389-33765697	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr2:33765275-33765773	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr2:33765236-33765826	H1-hESC	embryonic stem cell:	n/a	n/a
32	WRNIP1	chr2:33765491-33765494	GM12878	blood:	n/a	n/a
33	ZNF384	chr2:33772264-33772628	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:33756995..33759819-chr2:33761668..33764619,2	MCF-7	breast:
2	chr2:33767282..33768981-chr2:33771386..33773954,3	K562	blood:
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: 345 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376609228	chr2:33764579-33764580	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557209050	chr2:33764584-33764585	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67624702	chr2:33764600-33764601	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543878096	chr2:33764614-33764615	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182410507	chr2:33764623-33764624	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572165203	chr2:33764686-33764687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11687777	chr2:33764709-33764710	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4286255	chr2:33764717-33764718	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs185218119	chr2:33764771-33764772	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs34380255	chr2:33764795-33764796	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs563947976	chr2:33764797-33764798	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs532876906	chr2:33764808-33764809	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs371309686	chr2:33764839-33764840	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs6729554	chr2:33764864-33764865	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs559993475	chr2:33764886-33764887	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs191361585	chr2:33764911-33764912	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548260951	chr2:33764921-33764922	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568099733	chr2:33764935-33764936	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs4355083	chr2:33764955-33764956	Enhancers Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs183231894	chr2:33764981-33764982	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs570377523	chr2:33765011-33765012	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539356273	chr2:33765046-33765047	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs369012128	chr2:33765055-33765056	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs141442637	chr2:33765063-33765064	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs574010437	chr2:33765064-33765065	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs201148781	chr2:33765068-33765069	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs201468055	chr2:33765073-33765074	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533865626	chr2:33765078-33765079	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs188396301	chr2:33765103-33765104	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs76958710	chr2:33765162-33765163	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs77783049	chr2:33765164-33765165	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs531167250	chr2:33765174-33765175	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543340388	chr2:33765213-33765214	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193058138	chr2:33765257-33765258	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147090727	chr2:33765266-33765267	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115892508	chr2:33765276-33765277	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557401874	chr2:33765298-33765299	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577567506	chr2:33765300-33765301	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546517308	chr2:33765306-33765307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560130086	chr2:33765337-33765338	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528672821	chr2:33765353-33765354	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542089531	chr2:33765356-33765357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561089905	chr2:33765364-33765365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183332863	chr2:33765404-33765405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187904926	chr2:33765409-33765410	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570115292	chr2:33765421-33765422	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61361050	chr2:33765506-33765507	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs192417942	chr2:33765530-33765531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370351018	chr2:33765532-33765533	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566687582	chr2:33765534-33765535	Enhancers 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	chr2:33755200-33767800	Weak transcription	Liver	Liver
11	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33757200-33765400	Weak transcription	Right Atrium	heart
14	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:33757600-33765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:33759000-33765000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:33759000-33765800	Strong transcription	GM12878-XiMat	blood
18	chr2:33759000-33766600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:33761000-33765400	Weak transcription	NHDF-Ad	bronchial
22	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:33761200-33768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:33761200-33771000	Weak transcription	Right Ventricle	heart
25	chr2:33761200-33774200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
27	chr2:33762000-33765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:33762000-33780200	Weak transcription	Ovary	ovary
29	chr2:33762200-33772200	Weak transcription	Left Ventricle	heart
30	chr2:33762200-33775800	Weak transcription	Lung	lung
31	chr2:33762200-33777800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:33762200-33779400	Weak transcription	Spleen	Spleen
33	chr2:33762200-33779600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
35	chr2:33762600-33774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33763200-33780200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:33763800-33765600	Strong transcription	Brain Hippocampus Middle	brain
38	chr2:33764200-33764800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:33764400-33764800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:33764400-33764800	Weak transcription	Fetal Heart	heart
41	chr2:33764400-33765800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:33764400-33765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:33764800-33765200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:33764800-33766800	Enhancers	Fetal Heart	heart
45	chr2:33764800-33771600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:33765000-33765600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:33765000-33768000	Weak transcription	Primary B cells from cord blood	blood
48	chr2:33765200-33765600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:33765200-33765600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:33765200-33765600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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