Variant report

Variant	nsv587744
Chromosome Location	chr21:45681153-45683121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr21:45681498-45681620	HepG2	liver:	n/a	n/a
2	EGR1	chr21:45681705-45681972	K562	blood:	n/a	n/a
3	EGR1	chr21:45681580-45681947	K562	blood:	n/a	n/a
4	ELF1	chr21:45683096-45683404	GM12878	blood:	n/a	chr21:45683380-45683392
5	POLR2A	chr21:45681258-45681302	MCF-7	breast:	n/a	n/a
6	POLR2A	chr21:45681032-45681217	HepG2	liver:	n/a	n/a
7	THAP1	chr21:45681580-45681822	K562	blood:	n/a	n/a
8	ZBTB7A	chr21:45683093-45683338	K562	blood:	n/a	n/a
9	ZBTB7A	chr21:45683090-45683659	K562	blood:	n/a	n/a
10	ZBTB7A	chr21:45681814-45681932	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45681834-45681884	H1-hESC	embryonic stem cell:	embryo
2	chr21:45681834-45681884	HPAEpiC	pulmonary alveolar:	n/a
3	chr21:45681834-45681884	HCT-116	colon:	n/a
4	chr21:45681834-45681884	HL-60	blood:	n/a
5	chr21:45681834-45681884	T-47D	breast:	n/a
6	chr21:45681834-45681884	AG04449	skin:	fetal
7	chr21:45681834-45681884	ProgFib	skin:	n/a
8	chr21:45681834-45681884	Caco-2	colon:	n/a
9	chr21:45681834-45681884	GM19239	blood:	n/a
10	chr21:45681834-45681884	SAEC	small airway:	n/a
11	chr21:45681834-45681884	NHBE	bronchial:	n/a
12	chr21:45681834-45681884	U87	brain:	n/a
13	chr21:45681834-45681884	NT2-D1	testis:	n/a
14	chr21:45681834-45681884	HCM	heart:	n/a
15	chr21:45681834-45681884	HRE	kidney:	n/a
16	chr21:45681834-45681884	HCF	heart:	n/a
17	chr21:45681834-45681884	BJ	skin:	n/a
18	chr21:45681834-45681884	ECC-1	luminal epithelium:	n/a
19	chr21:45681834-45681884	AG09309	skin:	n/a
20	chr21:45681834-45681884	GM12892	blood:	n/a
21	chr21:45681834-45681884	HAEpiC	amniotic membrane:	n/a
22	chr21:45681834-45681884	HCPEpiC	choroid plexus:	n/a
23	chr21:45681834-45681884	GM12878	blood:	n/a
24	chr21:45681834-45681884	HMEC	breast:	n/a
25	chr21:45681834-45681884	PFSK-1	brain:	n/a
26	chr21:45681834-45681884	AG10803	skin:	n/a
27	chr21:45681834-45681884	Jurkat	blood:	n/a
28	chr21:45681834-45681884	HEK293	kidney:	embryo
29	chr21:45681834-45681884	HIPEpiC	eye:	n/a
30	chr21:45681834-45681884	ovcar-3	ovarian:	n/a
31	chr21:45681834-45681884	NB4	blood:	n/a
32	chr21:45681834-45681884	MCF10A-Er-Src	breast:	n/a
33	chr21:45681834-45681884	GM06990	blood:	n/a
34	chr21:45681834-45681884	NH-A	brain:	n/a
35	chr21:45681834-45681884	PrEC	prostate:	n/a
36	chr21:45681834-45681884	SK-N-SH_RA	brain:	n/a
37	chr21:45681834-45681884	MCF-7	breast:	n/a
38	chr21:45681834-45681884	PANC-1	pancreas:	n/a
39	chr21:45681834-45681884	AG09319	gingival:	n/a
40	chr21:45681834-45681884	HepG2	liver:	n/a
41	chr21:45681834-45681884	HRCEpiC	kidney:	n/a
42	chr21:45681834-45681884	SK-N-MC	brain:	n/a
43	chr21:45681834-45681884	CMK	blood:	n/a
44	chr21:45681834-45681884	Hela-S3	cervix:	n/a
45	chr21:45681834-45681884	BE2_C	brain:	n/a
46	chr21:45681834-45681884	GM12891	blood:	n/a
47	chr21:45681834-45681884	AG04450	lung:	fetal
48	chr21:45681834-45681884	RPTEC	kidney:	n/a
49	chr21:45681834-45681884	NHDF-neo	bronchial:	n/a
50	chr21:45681834-45681884	SK-N-SH	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45679421..45681484-chr21:45691729..45694649,2	MCF-7	breast:
2	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
3	chr21:45677174..45681552-chr21:45685520..45688325,5	K562	blood:

No data

Variant related genes	Relation type
DNMT3L	TF binding region
DNMT3L	CpG island
ENSG00000141959	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2070565	chr21:45681153-45681154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112457300	chr21:45681163-45681164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77287369	chr21:45681165-45681166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556513516	chr21:45681186-45681187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535755434	chr21:45681194-45681195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535996041	chr21:45681202-45681203	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554625850	chr21:45681215-45681216	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573402251	chr21:45681223-45681224	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540808794	chr21:45681259-45681260	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559302228	chr21:45681266-45681267	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540732482	chr21:45681275-45681276	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72613644	chr21:45681276-45681277	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544638527	chr21:45681277-45681278	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184062852	chr21:45681290-45681291	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146245304	chr21:45681304-45681305	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572366785	chr21:45681346-45681347	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542005929	chr21:45681352-45681353	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369282528	chr21:45681368-45681369	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79296121	chr21:45681376-45681377	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528287042	chr21:45681424-45681425	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111521236	chr21:45681427-45681428	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546345278	chr21:45681441-45681442	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571232393	chr21:45681458-45681459	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188794622	chr21:45681477-45681478	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550443898	chr21:45681485-45681486	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568785977	chr21:45681494-45681495	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536238764	chr21:45681577-45681578	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142739737	chr21:45681578-45681579	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2838535	chr21:45681579-45681580	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534132799	chr21:45681595-45681596	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367997804	chr21:45681642-45681643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577625877	chr21:45681705-45681706	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139708826	chr21:45681727-45681728	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538567564	chr21:45681738-45681739	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556893816	chr21:45681827-45681828	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181641804	chr21:45681852-45681853	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542166466	chr21:45681877-45681878	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113185110	chr21:45681878-45681879	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs62226881	chr21:45681887-45681888	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560389133	chr21:45681907-45681908	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113544693	chr21:45681981-45681982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572477758	chr21:45682048-45682049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112542439	chr21:45682049-45682050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59593850	chr21:45682081-45682082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59446093	chr21:45682166-45682167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs57918171	chr21:45682167-45682168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543123444	chr21:45682397-45682398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540055550	chr21:45682403-45682404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147895125	chr21:45682475-45682476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564774130	chr21:45682507-45682508	Weak transcription Enhancers	Chromatin interactive region	1 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
Hodgkin''s lymphoma	18641027	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45671800-45681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:45681000-45681200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr21:45681000-45681600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:45681000-45681800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr21:45681000-45682600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45681200-45681800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr21:45681400-45681800	Bivalent Enhancer	HepG2	liver
9	chr21:45681400-45682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:45681600-45681800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr21:45681600-45683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:45681800-45683000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:45681800-45683000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:45681800-45683200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr21:45682000-45682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:45682400-45683800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:45682600-45683000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:45682600-45684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:45682800-45684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:45683000-45683200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:45683000-45683400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr21:45683000-45683600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:45683000-45683600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:45683000-45683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45683000-45683800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr21:45683000-45683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:45683000-45684000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr21:45683000-45684000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:45683000-45684000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr21:45683000-45684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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