Variant report

Variant	esv275236
Chromosome Location	chr21:41110282-41119411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:124)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:41110633-41110673	HepG2	liver:	n/a	n/a
2	CTCF	chr21:41110820-41110858	Lung_OC	lung:	n/a	n/a
3	CTCF	chr21:41113561-41113650	LNCaP	prostate:	n/a	n/a
4	CTCF	chr21:41116780-41116845	GM13976	blood:	n/a	n/a
5	FOSL2	chr21:41114625-41114825	MCF-7	breast:	n/a	n/a
6	FOXA1	chr21:41114589-41114847	T-47D	breast:	n/a	n/a
7	FOXA1	chr21:41114607-41114812	T-47D	breast:	n/a	n/a
8	GATA3	chr21:41114614-41114815	MCF-7	breast:	n/a	n/a
9	GATA3	chr21:41114544-41114809	MCF-7	breast:	n/a	n/a
10	GATA3	chr21:41114571-41115025	MCF-7	breast:	n/a	n/a
11	GATA3	chr21:41114572-41114891	T-47D	breast:	n/a	n/a
12	HA-E2F1	chr21:41114175-41114771	MCF-7	breast:	n/a	n/a
13	MAFF	chr21:41111360-41111415	HepG2	liver:	n/a	n/a
14	MAFK	chr21:41111341-41111418	HepG2	liver:	n/a	n/a
15	MAFK	chr21:41111336-41111452	HepG2	liver:	n/a	n/a
16	MAFK	chr21:41118707-41118812	HepG2	liver:	n/a	n/a
17	MAFK	chr21:41111333-41111432	IMR90	lung:	n/a	n/a
18	SIN3AK20	chr21:41109208-41110327	MCF-7	breast:	n/a	n/a
19	TCF7L2	chr21:41114532-41115040	MCF-7	breast:	n/a	chr21:41114819-41114833
20	YY1	chr21:41117784-41117918	K562	blood:	n/a	n/a
21	ZNF217	chr21:41114538-41114938	MCF-7	breast:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:41117225-41117275	HL-60	blood:	n/a
2	chr21:41116522-41116572	BE2_C	brain:	n/a
3	chr21:41117225-41117275	HL-60	blood:	n/a
4	chr21:41116522-41116572	BE2_C	brain:	n/a
5	chr21:41116522-41116572	PrEC	prostate:	n/a
6	chr21:41117225-41117275	SAEC	small airway:	n/a
7	chr21:41117225-41117275	PFSK-1	brain:	n/a
8	chr21:41116522-41116572	AG04449	skin:	fetal
9	chr21:41116522-41116572	T-47D	breast:	n/a
10	chr21:41116522-41116572	HEK293	kidney:	embryo
11	chr21:41116522-41116572	MCF10A-Er-Src	breast:	n/a
12	chr21:41116522-41116572	GM19239	blood:	n/a
13	chr21:41117225-41117275	MCF10A-Er-Src	breast:	n/a
14	chr21:41117225-41117275	HRPEpiC	eye:	n/a
15	chr21:41117225-41117275	LNCaP	prostate:	n/a
16	chr21:41117225-41117275	HPAEpiC	pulmonary alveolar:	n/a
17	chr21:41117225-41117275	HEEpiC	esophagus:	n/a
18	chr21:41117225-41117275	MCF-7	breast:	n/a
19	chr21:41117225-41117275	ECC-1	luminal epithelium:	n/a
20	chr21:41116522-41116572	HNPCEpiC	eye:	n/a
21	chr21:41117225-41117275	HCT-116	colon:	n/a
22	chr21:41117225-41117275	GM12878	blood:	n/a
23	chr21:41116522-41116572	NB4	blood:	n/a
24	chr21:41116522-41116572	NHBE	bronchial:	n/a
25	chr21:41117225-41117275	HepG2	liver:	n/a
26	chr21:41116522-41116572	IMR90	lung:	fetal
27	chr21:41117225-41117275	U87	brain:	n/a
28	chr21:41116522-41116572	K562	blood:	n/a
29	chr21:41116522-41116572	HRCEpiC	kidney:	n/a
30	chr21:41117225-41117275	HMEC	breast:	n/a
31	chr21:41117225-41117275	AG09319	gingival:	n/a
32	chr21:41116522-41116572	MCF-7	breast:	n/a
33	chr21:41116522-41116572	ovcar-3	ovarian:	n/a
34	chr21:41116522-41116572	HL-60	blood:	n/a
35	chr21:41117225-41117275	Caco-2	colon:	n/a
36	chr21:41116522-41116572	SK-N-SH	brain:	n/a
37	chr21:41116522-41116572	NT2-D1	testis:	n/a
38	chr21:41117225-41117275	PANC-1	pancreas:	n/a
39	chr21:41117225-41117275	SKMC	muscle:	n/a
40	chr21:41117225-41117275	H1-hESC	embryonic stem cell:	embryo
41	chr21:41117225-41117275	GM19239	blood:	n/a
42	chr21:41116522-41116572	HPAEpiC	pulmonary alveolar:	n/a
43	chr21:41116522-41116572	SK-N-SH_RA	brain:	n/a
44	chr21:41117225-41117275	NHBE	bronchial:	n/a
45	chr21:41117225-41117275	HNPCEpiC	eye:	n/a
46	chr21:41117225-41117275	CMK	blood:	n/a
47	chr21:41116522-41116572	LNCaP	prostate:	n/a
48	chr21:41117225-41117275	GM12892	blood:	n/a
49	chr21:41116522-41116572	RPTEC	kidney:	n/a
50	chr21:41117225-41117275	GM12891	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41085205..41088011-chr21:41112686..41115638,2	MCF-7	breast:
2	chr21:41108059..41110631-chr21:41112030..41114431,2	MCF-7	breast:
3	chr21:40888055..40890382-chr21:41107871..41110600,2	MCF-7	breast:
4	chr21:41118789..41121502-chr21:41136765..41138744,2	MCF-7	breast:
5	chr21:41108059..41110631-chr21:41112030..41114431,2	MCF-7	breast:

No data

Variant related genes	Relation type
IGSF5	TF binding region
IGSF5	CpG island

Extended variants
information (count: 482 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4816642	chr21:41110282-41110283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574497838	chr21:41110284-41110285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543206821	chr21:41110288-41110289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563508436	chr21:41110315-41110316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374481485	chr21:41110368-41110369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542613395	chr21:41110398-41110399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs391212	chr21:41110406-41110407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146710529	chr21:41110454-41110455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545737856	chr21:41110459-41110460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73904409	chr21:41110486-41110487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377469387	chr21:41110495-41110496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527714219	chr21:41110527-41110528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201882474	chr21:41110554-41110555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560511047	chr21:41110572-41110573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528412440	chr21:41110573-41110574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185852121	chr21:41110586-41110587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530213516	chr21:41110615-41110616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140344489	chr21:41110625-41110626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145314594	chr21:41110627-41110628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117234594	chr21:41110633-41110634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137949551	chr21:41110645-41110646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117564627	chr21:41110656-41110657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190965719	chr21:41110697-41110698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183099504	chr21:41110728-41110729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535635290	chr21:41110736-41110737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537189132	chr21:41110752-41110753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367714191	chr21:41110758-41110759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371447762	chr21:41110762-41110763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552713682	chr21:41110763-41110764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552814054	chr21:41110772-41110773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548546695	chr21:41110819-41110820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527546641	chr21:41110820-41110821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76057996	chr21:41110827-41110828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572822373	chr21:41110909-41110910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs416642	chr21:41110940-41110941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185887367	chr21:41110966-41110967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530135752	chr21:41110972-41110973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543924740	chr21:41110973-41110974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563714960	chr21:41110974-41110975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532718925	chr21:41110997-41110998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190688494	chr21:41111008-41111009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183401843	chr21:41111009-41111010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528806266	chr21:41111013-41111014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547869528	chr21:41111014-41111015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555300520	chr21:41111017-41111018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374906604	chr21:41111018-41111019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188402542	chr21:41111029-41111030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs460528	chr21:41111072-41111073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370639370	chr21:41111076-41111077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60218783	chr21:41111094-41111095	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41104200-41138400	Weak transcription	Pancreas	Pancrea
2	chr21:41107800-41119400	Enhancers	Placenta	Placenta
3	chr21:41108000-41111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:41108600-41110800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:41110000-41148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:41110800-41113800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:41111600-41113800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:41113800-41115600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:41113800-41116000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr21:41114200-41114400	Enhancers	Esophagus	oesophagus
11	chr21:41114600-41117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:41115000-41115200	Enhancers	Esophagus	oesophagus
13	chr21:41115600-41122000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:41117000-41117200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:41117000-41117200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr21:41119400-41119800	Weak transcription	Placenta	Placenta

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