Variant report

Variant	esv3446359
Chromosome Location	chr21:46388406-46388531
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	ATF1	chr21:46387993-46388441	K562	blood:	n/a	n/a
2	ATF3	chr21:46387892-46388514	K562	blood:	n/a	chr21:46388225-46388238 chr21:46387908-46387917 chr21:46388226-46388236 chr21:46388227-46388238 chr21:46388227-46388238 chr21:46388228-46388242
3	BHLHE40	chr21:46388076-46388639	K562	blood:	n/a	chr21:46388553-46388569
4	BRCA1	chr21:46387971-46388566	Hela-S3	cervix:	n/a	n/a
5	CCNT2	chr21:46388173-46388479	K562	blood:	n/a	n/a
6	CEBPB	chr21:46387921-46388461	K562	blood:	n/a	n/a
7	CEBPB	chr21:46387941-46388447	A549	lung:	n/a	n/a
8	CEBPB	chr21:46387834-46388539	A549	lung:	n/a	n/a
9	CEBPB	chr21:46387912-46388420	HepG2	liver:	n/a	n/a
10	CEBPB	chr21:46387921-46388437	HepG2	liver:	n/a	n/a
11	CEBPB	chr21:46387869-46388425	MCF-7	breast:	n/a	n/a
12	CEBPB	chr21:46387667-46388658	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr21:46387945-46388423	IMR90	lung:	n/a	n/a
14	CEBPB	chr21:46387790-46388451	HepG2	liver:	n/a	n/a
15	CEBPB	chr21:46387928-46388453	A549	lung:	n/a	n/a
16	CEBPB	chr21:46387996-46388413	MCF-7	breast:	n/a	n/a
17	CEBPB	chr21:46387987-46388408	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr21:46387855-46388596	K562	blood:	n/a	n/a
19	CEBPD	chr21:46387879-46388556	K562	blood:	n/a	n/a
20	CEBPD	chr21:46387873-46388593	K562	blood:	n/a	n/a
21	CHD2	chr21:46387685-46388482	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr21:46387894-46388577	K562	blood:	n/a	n/a
23	CREB1	chr21:46387891-46388483	K562	blood:	n/a	n/a
24	CREB1	chr21:46387887-46388459	HepG2	liver:	n/a	n/a
25	ELK1	chr21:46388476-46388509	K562	blood:	n/a	n/a
26	EP300	chr21:46388197-46388475	K562	blood:	n/a	n/a
27	EP300	chr21:46387941-46388436	HepG2	liver:	n/a	n/a
28	EP300	chr21:46387995-46388421	HepG2	liver:	n/a	n/a
29	ETS1	chr21:46388207-46388541	K562	blood:	n/a	n/a
30	FOS	chr21:46387968-46388408	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr21:46388008-46388408	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA1	chr21:46388214-46388552	K562	blood:	n/a	chr21:46388394-46388411
33	GATA1	chr21:46388081-46388676	PBDE	blood:	n/a	chr21:46388394-46388411
34	GATA2	chr21:46388208-46388591	K562	blood:	n/a	chr21:46388394-46388411
35	GTF2F1	chr21:46388004-46388480	Hela-S3	cervix:	n/a	n/a
36	HCFC1	chr21:46387452-46388735	Hela-S3	cervix:	n/a	n/a
37	HMGN3	chr21:46388144-46388465	K562	blood:	n/a	n/a
38	JUN	chr21:46387916-46388705	K562	blood:	n/a	chr21:46387955-46387962 chr21:46388533-46388544
39	JUND	chr21:46387973-46388442	K562	blood:	n/a	n/a
40	JUND	chr21:46387953-46388500	Hela-S3	cervix:	n/a	chr21:46387955-46387962
41	MAFK	chr21:46388038-46388504	Hela-S3	cervix:	n/a	n/a
42	MAX	chr21:46388135-46388569	K562	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
43	MAX	chr21:46388123-46388572	K562	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
44	MAX	chr21:46387713-46388628	NB4	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
45	MAX	chr21:46388034-46388668	K562	blood:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
46	MAX	chr21:46387941-46388524	HepG2	liver:	n/a	chr21:46388273-46388283 chr21:46388302-46388312
47	MAX	chr21:46387632-46388645	Hela-S3	cervix:	n/a	chr21:46388273-46388283 chr21:46388557-46388567 chr21:46388302-46388312
48	MAZ	chr21:46387614-46388529	Hela-S3	cervix:	n/a	n/a
49	MAZ	chr21:46388087-46388508	K562	blood:	n/a	n/a
50	MXI1	chr21:46388078-46388443	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
2	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
3	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
4	chr21:46380346..46382213-chr21:46387427..46389654,2	K562	blood:
5	chr21:46377930..46382021-chr21:46384399..46389037,6	MCF-7	breast:
6	chr21:46387032..46389639-chr21:46431264..46433004,2	K562	blood:
7	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
8	chr21:46388301..46390286-chr21:46392364..46394204,2	MCF-7	breast:
9	chr21:46387326..46389294-chr21:46542023..46543987,2	MCF-7	breast:
10	chr21:46373821..46376741-chr21:46385880..46388857,2	MCF-7	breast:
11	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:
12	chr21:46386181..46388411-chr21:46549880..46552492,2	MCF-7	breast:
13	chr21:46374315..46377421-chr21:46386112..46389411,4	K562	blood:
14	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000160256	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000268856	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375169411	chr21:46388427-46388428	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs553628894	chr21:46388432-46388433	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs7283630	chr21:46388437-46388438	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186286508	chr21:46388480-46388481	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs537186625	chr21:46388523-46388524	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs192268463	chr21:46388525-46388526	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Congenital heart defects	20877625	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:46364200-46391400	Strong transcription	Dnd41	blood
3	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
5	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
6	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
7	chr21:46381600-46389400	Weak transcription	NHDF-Ad	bronchial
8	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46383600-46390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr21:46384200-46390000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:46384200-46391200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46384200-46391400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
14	chr21:46384400-46388600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46384600-46389800	Genic enhancers	Fetal Thymus	thymus
16	chr21:46384800-46389000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:46384800-46389400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr21:46384800-46390000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:46384800-46390600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
22	chr21:46385200-46390000	Enhancers	Primary B cells from cord blood	blood
23	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
24	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr21:46385600-46388600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:46385600-46389400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:46386000-46388600	Enhancers	Right Atrium	heart
30	chr21:46386000-46389400	Weak transcription	HSMMtube	muscle
31	chr21:46386000-46389400	Weak transcription	Osteobl	bone
32	chr21:46386200-46388600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46386200-46389600	Weak transcription	HSMM	muscle
34	chr21:46386200-46391200	Genic enhancers	Fetal Stomach	stomach
35	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
36	chr21:46386400-46392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr21:46386600-46388600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:46386600-46388600	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr21:46386600-46389200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr21:46386600-46389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:46386600-46389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:46386600-46391200	Genic enhancers	Lung	lung
44	chr21:46386800-46388600	Genic enhancers	Right Ventricle	heart
45	chr21:46386800-46389400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr21:46386800-46390000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:46386800-46390000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
49	chr21:46387000-46390200	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr21:46387000-46391200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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