Variant report

Variant	esv1819896
Chromosome Location	chr21:46817380-46821907
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	chr21:46818852-46818853	K562	blood:	n/a	n/a
2	BACH1	chr21:46820940-46821280	K562	blood:	n/a	n/a
3	BACH1	chr21:46820955-46821287	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr21:46820914-46821705	K562	blood:	n/a	n/a
5	CBX3	chr21:46821033-46821469	HCT-116	colon:	n/a	n/a
6	CBX3	chr21:46820985-46821465	K562	blood:	n/a	n/a
7	CEBPB	chr21:46820833-46821043	HepG2	liver:	n/a	chr21:46820993-46821004
8	CEBPB	chr21:46820897-46821028	Hela-S3	cervix:	n/a	chr21:46820993-46821004
9	ELF1	chr21:46820976-46821260	K562	blood:	n/a	n/a
10	EP300	chr21:46821044-46821270	K562	blood:	n/a	n/a
11	FOS	chr21:46820892-46821075	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA1	chr21:46821616-46822295	PBDE	blood:	n/a	n/a
13	IRF1	chr21:46821019-46821257	K562	blood:	n/a	n/a
14	JUND	chr21:46821010-46821280	K562	blood:	n/a	n/a
15	KAP1	chr21:46820972-46821580	HEK293	kidney:	n/a	n/a
16	KAP1	chr21:46820993-46821500	U2OS	brain:	n/a	n/a
17	KAP1	chr21:46820622-46822336	K562	blood:	n/a	n/a
18	MAFF	chr21:46820506-46821290	HepG2	liver:	n/a	chr21:46821058-46821076
19	MAFF	chr21:46820530-46821342	K562	blood:	n/a	chr21:46821058-46821076
20	MAFK	chr21:46820468-46821304	HepG2	liver:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
21	MAFK	chr21:46820897-46821264	Hela-S3	cervix:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
22	MAFK	chr21:46820848-46821272	H1-hESC	embryonic stem cell:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
23	MAFK	chr21:46820474-46821258	HepG2	liver:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
24	MAFK	chr21:46820520-46821268	IMR90	lung:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
25	MAFK	chr21:46820887-46821303	K562	blood:	n/a	chr21:46821060-46821070 chr21:46821059-46821074 chr21:46821061-46821070
26	MAX	chr21:46820969-46821260	K562	blood:	n/a	n/a
27	MAZ	chr21:46821082-46821259	K562	blood:	n/a	n/a
28	MYC	chr21:46821087-46821186	K562	blood:	n/a	n/a
29	MYC	chr21:46821055-46821250	K562	blood:	n/a	n/a
30	RCOR1	chr21:46821020-46821281	K562	blood:	n/a	n/a
31	SETDB1	chr21:46820982-46821601	U2OS	brain:	n/a	n/a
32	SETDB1	chr21:46820980-46821666	K562	blood:	n/a	n/a
33	STAT3	chr21:46821126-46821407	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF12	chr21:46821001-46821423	A549	lung:	n/a	n/a
35	TRIM28	chr21:46820915-46821470	K562	blood:	n/a	n/a
36	TRIM28	chr21:46820947-46821357	K562	blood:	n/a	n/a
37	USF1	chr21:46820995-46821349	K562	blood:	n/a	n/a
38	USF1	chr21:46821030-46821349	A549	lung:	n/a	n/a
39	USF1	chr21:46821078-46821319	SK-N-SH	brain:	n/a	n/a
40	ZMIZ1	chr21:46821142-46821164	K562	blood:	n/a	n/a
41	ZNF143	chr21:46820973-46821354	K562	blood:	n/a	n/a
42	ZNF143	chr21:46820982-46821343	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF143	chr21:46821116-46821213	Hela-S3	cervix:	n/a	n/a
44	ZNF384	chr21:46820908-46821299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46711273..46715306-chr21:46820522..46825546,4	MCF-7	breast:
2	chr21:46737653..46759617-chr21:46790778..46832239,260	MCF-7	breast:
3	chr21:46815716..46818136-chr21:46821509..46823991,2	MCF-7	breast:
4	chr21:46815255..46817876-chr21:46826739..46829076,2	MCF-7	breast:
5	chr21:46710906..46714348-chr21:46821217..46828800,8	MCF-7	breast:
6	chr21:46818747..46822859-chr21:46823423..46827083,3	K562	blood:
7	chr21:46821773..46824180-chr6:13571587..13574488,2	MCF-7	breast:
8	chr21:46806345..46808330-chr21:46821258..46823797,2	K562	blood:
9	chr21:46815514..46817659-chr21:46961656..46963644,2	MCF-7	breast:
10	chr21:46821608..46828973-chr21:46832792..46845018,27	MCF-7	breast:
11	chr21:46806273..46808920-chr21:46814989..46817504,2	MCF-7	breast:
12	chr21:46817074..46822859-chr21:46823457..46827335,6	K562	blood:
13	chr21:46815716..46818136-chr21:46821509..46823991,2	MCF-7	breast:
14	chr21:46812731..46814919-chr21:46818975..46821230,3	K562	blood:
15	chr21:46671592..46674476-chr21:46821725..46823483,2	MCF-7	breast:
16	chr21:46808725..46810269-chr21:46819754..46821764,2	MCF-7	breast:
17	chr21:46812352..46814348-chr21:46814629..46817990,4	K562	blood:

Variant related genes	Relation type
COL18A1	TF binding region
ENSG00000183535	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000229382	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000182871	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819095	chr21:46817380-46817381	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534685425	chr21:46817381-46817382	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs553153107	chr21:46817532-46817533	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577904884	chr21:46817550-46817551	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139233338	chr21:46817559-46817560	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs563342757	chr21:46817592-46817593	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575664024	chr21:46817607-46817608	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575459266	chr21:46817624-46817625	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544750387	chr21:46817627-46817628	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs541859893	chr21:46817655-46817656	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562088955	chr21:46817680-46817681	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7283907	chr21:46817698-46817699	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562964229	chr21:46817749-46817750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370986438	chr21:46817761-46817762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7280258	chr21:46817806-46817807	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559380400	chr21:46817814-46817815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76864899	chr21:46817896-46817897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551922318	chr21:46817961-46817962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149589855	chr21:46817971-46817972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113622803	chr21:46818019-46818020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs71324422	chr21:46818203-46818204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549439147	chr21:46818212-46818213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs76788060	chr21:46818213-46818214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534648584	chr21:46818226-46818227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560799018	chr21:46818228-46818229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553016081	chr21:46818277-46818278	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577767869	chr21:46818286-46818287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538378494	chr21:46818311-46818312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182074780	chr21:46818353-46818354	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557101077	chr21:46818370-46818371	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185046808	chr21:46818384-46818385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs1980978	chr21:46818397-46818398	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551114576	chr21:46818423-46818424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564961166	chr21:46818434-46818435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560886351	chr21:46818436-46818437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530531588	chr21:46818509-46818510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs2026884	chr21:46818579-46818580	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559342237	chr21:46818667-46818668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536922157	chr21:46818706-46818707	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71334062	chr21:46818707-46818708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567347811	chr21:46818715-46818716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs3083454	chr21:46818719-46818720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533217821	chr21:46818758-46818759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536083562	chr21:46818775-46818776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190291992	chr21:46818777-46818778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1041458	chr21:46818782-46818783	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs531059266	chr21:46818941-46818942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182463000	chr21:46818942-46818943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188805495	chr21:46818956-46818957	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549642397	chr21:46818975-46818976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
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
Breast cancer	17142309	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
Acute myeloid leukemia	17237825	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46807800-46824400	Weak transcription	Right Atrium	heart
2	chr21:46816200-46819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46816800-46818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:46818800-46819600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:46821000-46821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr21:46821800-46822600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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