Variant report

Variant	esv2756958
Chromosome Location	chr2:205342727-205348724
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	ARID3A	chr2:205348269-205348449	K562	blood:	n/a	n/a
2	BATF	chr2:205344293-205344619	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:205348196-205348389	K562	blood:	n/a	n/a
4	BHLHE40	chr2:205348625-205348749	K562	blood:	n/a	n/a
5	CCNT2	chr2:205348218-205348734	K562	blood:	n/a	n/a
6	CEBPB	chr2:205347390-205347603	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:205344250-205344631	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:205344277-205344524	A549	lung:	n/a	n/a
9	CTCF	chr2:205348460-205348610	NHLF	lung:	n/a	n/a
10	CUX1	chr2:205344381-205344580	K562	blood:	n/a	n/a
11	CUX1	chr2:205348280-205348832	K562	blood:	n/a	chr2:205348716-205348725 chr2:205348716-205348725
12	E2F4	chr2:205347151-205347200	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr2:205348390-205348904	ECC-1	luminal epithelium:	n/a	chr2:205348545-205348559
14	EP300	chr2:205348207-205348762	K562	blood:	n/a	chr2:205348545-205348559
15	EP300	chr2:205348220-205348516	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr2:205344447-205344637	K562	blood:	n/a	n/a
17	EP300	chr2:205348526-205348888	SK-N-SH_RA	brain:	n/a	chr2:205348545-205348559
18	EP300	chr2:205348206-205348809	SK-N-SH_RA	brain:	n/a	chr2:205348545-205348559
19	EP300	chr2:205348244-205349048	ECC-1	luminal epithelium:	n/a	chr2:205348964-205348978 chr2:205348545-205348559
20	EP300	chr2:205347937-205349276	SK-N-SH	brain:	n/a	chr2:205348964-205348978 chr2:205348545-205348559
21	ESR1	chr2:205348493-205348861	ECC-1	luminal epithelium:	n/a	n/a
22	FOS	chr2:205344358-205344639	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
23	FOS	chr2:205344420-205344578	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
24	FOS	chr2:205344392-205344606	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
25	FOS	chr2:205344380-205344674	HUVEC	blood vessel:	n/a	chr2:205344508-205344519
26	FOS	chr2:205344356-205344675	MCF10A-Er-Src	breast:	n/a	chr2:205344508-205344519
27	FOSL2	chr2:205344258-205344747	SK-N-SH	brain:	n/a	n/a
28	FOXA1	chr2:205348311-205348740	ECC-1	luminal epithelium:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
29	FOXA1	chr2:205348166-205348864	HepG2	liver:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
30	FOXA1	chr2:205348215-205348700	T-47D	breast:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
31	FOXA1	chr2:205348168-205348832	HepG2	liver:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
32	FOXA1	chr2:205348335-205348837	ECC-1	luminal epithelium:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
33	FOXA1	chr2:205348275-205348660	T-47D	breast:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
34	FOXA1	chr2:205348233-205348785	HepG2	liver:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
35	FOXA1	chr2:205348221-205348766	HepG2	liver:	n/a	chr2:205348573-205348585 chr2:205348395-205348410 chr2:205348351-205348366
36	FOXA2	chr2:205348335-205348817	A549	lung:	n/a	chr2:205348573-205348585
37	FOXA2	chr2:205348270-205348778	HepG2	liver:	n/a	chr2:205348573-205348585
38	GATA1	chr2:205348117-205349011	K562	blood:	n/a	chr2:205348873-205348884
39	GATA2	chr2:205348215-205348989	SH-SY5Y	brain:	n/a	chr2:205348873-205348884
40	GATA3	chr2:205348066-205348678	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr2:205347922-205348960	MCF-7	breast:	n/a	chr2:205348873-205348884
42	GATA3	chr2:205348230-205348619	SK-N-SH	brain:	n/a	n/a
43	GATA3	chr2:205348281-205348535	MCF-7	breast:	n/a	n/a
44	GATA3	chr2:205348106-205348898	SH-SY5Y	brain:	n/a	chr2:205348873-205348884
45	GATA3	chr2:205348147-205348943	MCF-7	breast:	n/a	chr2:205348873-205348884
46	GATA3	chr2:205348213-205348533	T-47D	breast:	n/a	n/a
47	GATA3	chr2:205348044-205348962	MCF-7	breast:	n/a	chr2:205348873-205348884
48	GATA3	chr2:205348160-205348612	T-47D	breast:	n/a	n/a
49	HDAC2	chr2:205348292-205348586	MCF-7	breast:	n/a	n/a
50	JUN	chr2:205348557-205348879	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
2	chr2:205347876..205349851-chr2:205365321..205368563,3	K562	blood:
3	chr2:205341764..205344115-chr2:205410157..205412057,2	MCF-7	breast:
4	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
5	chr2:205342371..205345502-chr2:205347551..205349331,3	MCF-7	breast:
6	chr2:205347876..205350145-chr2:205365321..205368902,4	K562	blood:
7	chr2:205345447..205347577-chr2:205349288..205350850,2	K562	blood:

Variant related genes	Relation type
ENSG00000236634	TF binding region
ENSG00000116117	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs1545378	chr2:205342727-205342728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541924295	chr2:205342734-205342735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199753459	chr2:205342741-205342742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189649501	chr2:205342797-205342798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145332489	chr2:205342811-205342812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556132169	chr2:205342826-205342827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527745388	chr2:205342862-205342863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545592815	chr2:205342918-205342919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564082105	chr2:205342919-205342920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531489354	chr2:205342958-205342959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114754492	chr2:205342996-205342997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567682645	chr2:205342998-205342999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73982284	chr2:205343008-205343009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35341137	chr2:205343009-205343010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547129357	chr2:205343020-205343021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565763909	chr2:205343033-205343034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534167449	chr2:205343058-205343059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56019508	chr2:205343059-205343060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398105217	chr2:205343072-205343073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371918178	chr2:205343089-205343090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571191537	chr2:205343119-205343120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534516983	chr2:205343152-205343153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538513096	chr2:205343155-205343156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6748537	chr2:205343209-205343210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542104508	chr2:205343227-205343228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1470544	chr2:205343228-205343229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs62179336	chr2:205343243-205343244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554932858	chr2:205343280-205343281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545629514	chr2:205343303-205343304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368103221	chr2:205343380-205343381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6748844	chr2:205343459-205343460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147663441	chr2:205343464-205343465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543269328	chr2:205343478-205343479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149145974	chr2:205343495-205343496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561724519	chr2:205343506-205343507	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376941556	chr2:205343523-205343524	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547359334	chr2:205343524-205343525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369227290	chr2:205343532-205343533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565670025	chr2:205343604-205343605	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533036024	chr2:205343698-205343699	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552827710	chr2:205343730-205343731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182625122	chr2:205343778-205343779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142340913	chr2:205343800-205343801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186895522	chr2:205343890-205343891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568734970	chr2:205343958-205343959	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535523124	chr2:205344007-205344008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192149340	chr2:205344009-205344010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572477583	chr2:205344044-205344045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs151284865	chr2:205344070-205344071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140529168	chr2:205344157-205344158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205337400-205344000	Weak transcription	K562	blood
2	chr2:205338200-205350400	Weak transcription	NHLF	lung
3	chr2:205340600-205344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:205340800-205342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:205341400-205345200	Weak transcription	Fetal Kidney	kidney
6	chr2:205341400-205345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:205341400-205348400	Weak transcription	HSMMtube	muscle
8	chr2:205341600-205344200	Weak transcription	Osteobl	bone
9	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
10	chr2:205342400-205343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:205342400-205344400	Weak transcription	NHDF-Ad	bronchial
12	chr2:205342400-205344600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:205342600-205343800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:205342600-205345400	Enhancers	NHEK	skin
15	chr2:205342800-205343200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:205342800-205344200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:205343400-205344600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:205343600-205344600	Enhancers	Fetal Thymus	thymus
19	chr2:205343800-205344800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:205343800-205344800	Enhancers	HUVEC	blood vessel
21	chr2:205344000-205344400	Enhancers	Lung	lung
22	chr2:205344000-205344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:205344000-205344600	Enhancers	NH-A	brain
24	chr2:205344000-205345400	Enhancers	K562	blood
25	chr2:205344200-205344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:205344200-205344600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:205344200-205344600	Enhancers	Osteobl	bone
28	chr2:205344200-205344800	Enhancers	HSMM	muscle
29	chr2:205344200-205345000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:205344600-205348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:205344800-205348600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:205345200-205345400	Enhancers	Fetal Kidney	kidney
33	chr2:205345400-205345800	Weak transcription	Fetal Kidney	kidney
34	chr2:205345400-205348200	Weak transcription	K562	blood
35	chr2:205345400-205348600	Weak transcription	NHEK	skin
36	chr2:205345600-205345800	Enhancers	Fetal Intestine Large	intestine
37	chr2:205345800-205346000	Enhancers	Fetal Intestine Small	intestine
38	chr2:205345800-205346000	Enhancers	Fetal Kidney	kidney
39	chr2:205345800-205348200	Weak transcription	Fetal Intestine Large	intestine
40	chr2:205345800-205349800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:205346000-205347400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:205346000-205348200	Weak transcription	Fetal Kidney	kidney
43	chr2:205347400-205348800	Enhancers	Fetal Intestine Small	intestine
44	chr2:205348000-205348800	Enhancers	HepG2	liver
45	chr2:205348200-205348600	Enhancers	Brain Germinal Matrix	brain
46	chr2:205348200-205348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:205348200-205349000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:205348200-205349000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:205348200-205349000	Enhancers	Fetal Intestine Large	intestine
50	chr2:205348200-205349000	Enhancers	Fetal Kidney	kidney

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