Variant report

Variant	esv2040579
Chromosome Location	chr22:29999344-29999345
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	chr22:29999159-29999616	K562	blood:	n/a	chr22:29999225-29999240
2	ATF1	chr22:29999113-29999668	K562	blood:	n/a	n/a
3	ATF2	chr22:29999217-29999588	GM12878	blood:	n/a	n/a
4	ATF2	chr22:29999237-29999535	GM12878	blood:	n/a	n/a
5	ATF3	chr22:29999232-29999626	K562	blood:	n/a	chr22:29999557-29999566
6	BACH1	chr22:29999147-29999764	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr22:29999295-29999823	GM12878	blood:	n/a	chr22:29999508-29999524 chr22:29999769-29999785
8	BHLHE40	chr22:29999130-29999695	K562	blood:	n/a	chr22:29999508-29999524
9	BRCA1	chr22:29999206-29999683	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr22:29999296-29999482	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr22:29999002-29999651	K562	blood:	n/a	n/a
12	CEBPB	chr22:29999310-29999534	HepG2	liver:	n/a	chr22:29999437-29999445
13	CEBPB	chr22:29999269-29999655	Hela-S3	cervix:	n/a	chr22:29999437-29999445
14	CEBPZ	chr22:29999156-29999580	HepG2	liver:	n/a	n/a
15	CHD2	chr22:29999128-29999602	H1-hESC	embryonic stem cell:	n/a	chr22:29999200-29999210
16	CHD2	chr22:29999064-29999644	K562	blood:	n/a	chr22:29999200-29999210
17	CHD2	chr22:29999216-29999730	HepG2	liver:	n/a	n/a
18	CHD2	chr22:29999061-29999741	GM12878	blood:	n/a	chr22:29999200-29999210
19	CHD2	chr22:29999115-30000289	Hela-S3	cervix:	n/a	chr22:29999200-29999210
20	CREB1	chr22:29999276-29999589	A549	lung:	n/a	n/a
21	CREB1	chr22:29999045-29999905	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr22:29999055-29999955	HepG2	liver:	n/a	n/a
23	CREB1	chr22:29999118-29999842	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr22:29999115-29999712	ECC-1	luminal epithelium:	n/a	n/a
25	CREB1	chr22:29998991-29999811	GM12878	blood:	n/a	n/a
26	CREB1	chr22:29999152-29999820	A549	lung:	n/a	n/a
27	CREB1	chr22:29999021-30000282	HepG2	liver:	n/a	n/a
28	CREB1	chr22:29998930-29999827	GM12878	blood:	n/a	n/a
29	CREB1	chr22:29999139-29999871	K562	blood:	n/a	n/a
30	CREB1	chr22:29999088-29999898	K562	blood:	n/a	n/a
31	CREB1	chr22:29999173-29999724	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr22:29999163-29999792	GM12878	blood:	n/a	n/a
33	CTCF	chr22:29999203-29999352	K562	blood:	n/a	n/a
34	CTCF	chr22:29999240-29999390	GM12870	blood:	n/a	n/a
35	E2F4	chr22:29998966-29999760	MCF10A-Er-Src	breast:	n/a	chr22:29999012-29999019 chr22:29999406-29999413 chr22:29999012-29999019 chr22:29999402-29999414 chr22:29999008-29999020 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999012-29999019 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999547-29999558 chr22:29999436-29999445
36	E2F4	chr22:29999077-30000095	K562	blood:	n/a	chr22:29999406-29999413 chr22:29999402-29999414 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999547-29999558 chr22:29999436-29999445
37	E2F6	chr22:29999085-29999706	K562	blood:	n/a	chr22:29999406-29999413 chr22:29999402-29999414 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999436-29999445
38	E2F6	chr22:29999002-30000073	K562	blood:	n/a	chr22:29999012-29999019 chr22:29999406-29999413 chr22:29999012-29999019 chr22:29999402-29999414 chr22:29999008-29999020 chr22:29999406-29999413 chr22:29999521-29999531 chr22:29999012-29999019 chr22:29999225-29999240 chr22:29999406-29999413 chr22:29999436-29999445
39	EBF1	chr22:29999029-29999529	GM12878	blood:	n/a	chr22:29999128-29999137 chr22:29999127-29999137
40	EBF1	chr22:29999011-29999429	GM12878	blood:	n/a	chr22:29999128-29999137 chr22:29999127-29999137
41	ELF1	chr22:29999320-29999739	K562	blood:	n/a	chr22:29999509-29999521
42	ELF1	chr22:29999002-30000262	GM12878	blood:	n/a	chr22:30000198-30000211 chr22:29999509-29999521
43	ELF1	chr22:29999140-29999756	MCF-7	breast:	n/a	chr22:29999509-29999521
44	ELF1	chr22:29999007-30000210	GM12878	blood:	n/a	chr22:29999509-29999521
45	ELF1	chr22:29999301-29999595	HepG2	liver:	n/a	chr22:29999509-29999521
46	ELF1	chr22:29999284-29999801	K562	blood:	n/a	chr22:29999509-29999521
47	ELK1	chr22:29999110-29999867	GM12878	blood:	n/a	n/a
48	ELK1	chr22:29999112-29999700	Hela-S3	cervix:	n/a	n/a
49	EP300	chr22:29999304-29999675	K562	blood:	n/a	n/a
50	EP300	chr22:29999162-29999698	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29999326-29999376	Hepatocyte	liver:	n/a
2	chr22:29999326-29999376	NT2-D1	testis:	n/a
3	chr22:29999326-29999376	HEEpiC	esophagus:	n/a
4	chr22:29999326-29999376	SKMC	muscle:	n/a
5	chr22:29999326-29999376	NB4	blood:	n/a
6	chr22:29999326-29999376	HL-60	blood:	n/a
7	chr22:29999326-29999376	NHBE	bronchial:	n/a
8	chr22:29999326-29999376	AG04449	skin:	fetal
9	chr22:29999326-29999376	K562	blood:	n/a
10	chr22:29999326-29999376	HPAEpiC	pulmonary alveolar:	n/a
11	chr22:29999326-29999376	ProgFib	skin:	n/a
12	chr22:29999326-29999376	RPTEC	kidney:	n/a
13	chr22:29999326-29999376	AG04450	lung:	fetal
14	chr22:29999326-29999376	HCF	heart:	n/a
15	chr22:29999326-29999376	HIPEpiC	eye:	n/a
16	chr22:29999326-29999376	PANC-1	pancreas:	n/a
17	chr22:29999326-29999376	HepG2	liver:	n/a
18	chr22:29999326-29999376	HRPEpiC	eye:	n/a
19	chr22:29999326-29999376	BJ	skin:	n/a
20	chr22:29999326-29999376	MCF-7	breast:	n/a
21	chr22:29999326-29999376	HCPEpiC	choroid plexus:	n/a
22	chr22:29999326-29999376	PrEC	prostate:	n/a
23	chr22:29999326-29999376	SAEC	small airway:	n/a
24	chr22:29999326-29999376	Jurkat	blood:	n/a
25	chr22:29999326-29999376	HAEpiC	amniotic membrane:	n/a
26	chr22:29999326-29999376	NH-A	brain:	n/a
27	chr22:29999326-29999376	IMR90	lung:	fetal
28	chr22:29999326-29999376	BE2_C	brain:	n/a
29	chr22:29999326-29999376	ovcar-3	ovarian:	n/a
30	chr22:29999326-29999376	HRCEpiC	kidney:	n/a
31	chr22:29999326-29999376	SK-N-SH_RA	brain:	n/a
32	chr22:29999326-29999376	HRE	kidney:	n/a
33	chr22:29999326-29999376	AoSMC	blood vessel:	n/a
34	chr22:29999326-29999376	HEK293	kidney:	embryo
35	chr22:29999326-29999376	GM19239	blood:	n/a
36	chr22:29999326-29999376	GM06990	blood:	n/a
37	chr22:29999326-29999376	GM12878	blood:	n/a
38	chr22:29999326-29999376	Caco-2	colon:	n/a
39	chr22:29999326-29999376	MCF10A-Er-Src	breast:	n/a
40	chr22:29999326-29999376	AG09309	skin:	n/a
41	chr22:29999326-29999376	NHDF-neo	bronchial:	n/a
42	chr22:29999326-29999376	H1-hESC	embryonic stem cell:	embryo
43	chr22:29999326-29999376	SK-N-SH	brain:	n/a
44	chr22:29999326-29999376	LNCaP	prostate:	n/a
45	chr22:29999326-29999376	ECC-1	luminal epithelium:	n/a
46	chr22:29999326-29999376	HMEC	breast:	n/a
47	chr22:29999326-29999376	HCM	heart:	n/a
48	chr22:29999326-29999376	CMK	blood:	n/a
49	chr22:29999326-29999376	AG10803	skin:	n/a
50	chr22:29999326-29999376	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:
2	chr13:52026823..52027558-chr22:29999049..30000022,2	HCT-116	colon:
3	chr22:29998884..29999633-chr3:23958298..23958926,2	NB4	blood:
4	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
5	chr22:29999342..30001478-chr22:30003978..30005588,2	MCF-7	breast:

Variant related genes	Relation type
NF2	TF binding region
NF2	CpG island
ENSG00000233010	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000184117	chromatin interactions
ENSG00000102786	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559560319	chr22:29999344-29999345	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs397832686	chr22:29999345-29999346	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29998400-30000200	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr22:29998400-30001200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:29998600-30000000	Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr22:29998600-30000400	Active TSS	Brain Cingulate Gyrus	brain
5	chr22:29998600-30000600	Active TSS	Hela-S3	cervix
6	chr22:29998600-30000800	Active TSS	Colonic Mucosa	Colon
7	chr22:29998600-30001400	Active TSS	GM12878-XiMat	blood
8	chr22:29998600-30002000	Active TSS	HSMM	muscle
9	chr22:29998800-30000000	Active TSS	Stomach Smooth Muscle	stomach
10	chr22:29998800-30000000	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr22:29998800-30000200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:29998800-30000400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr22:29998800-30000400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29998800-30000400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:29998800-30000400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr22:29998800-30000400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:29998800-30000400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr22:29998800-30000400	Active TSS	Dnd41	blood
19	chr22:29998800-30000800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29998800-30001000	Active TSS	Right Atrium	heart
21	chr22:29998800-30001000	Active TSS	Thymus	Thymus
22	chr22:29998800-30001200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:29998800-30001200	Active TSS	Right Ventricle	heart
24	chr22:29999000-29999400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr22:29999000-29999400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:29999000-29999400	Flanking Active TSS	Fetal Brain Female	brain
27	chr22:29999000-29999400	Flanking Active TSS	Placenta	Placenta
28	chr22:29999000-29999800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:29999000-29999800	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr22:29999000-30000000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29999000-30000000	Active TSS	Primary hematopoietic stem cells	blood
32	chr22:29999000-30000000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr22:29999000-30000000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29999000-30000000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:29999000-30000000	Active TSS	Adipose Nuclei	Adipose
36	chr22:29999000-30000000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr22:29999000-30000200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:29999000-30000200	Active TSS	Liver	Liver
39	chr22:29999000-30000200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr22:29999000-30000200	Active TSS	Fetal Intestine Large	intestine
41	chr22:29999000-30000200	Active TSS	Rectal Smooth Muscle	rectum
42	chr22:29999000-30000200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr22:29999000-30000200	Active TSS	Stomach Mucosa	stomach
44	chr22:29999000-30000200	Active TSS	Osteobl	bone
45	chr22:29999000-30000400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:29999000-30000400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr22:29999000-30000400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr22:29999000-30000400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr22:29999000-30000400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr22:29999000-30000400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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