Variant report

Variant	esv3441993
Chromosome Location	chr21:15430131-15432929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:15431854-15432028	MCF-7	breast:	n/a	chr21:15431952-15431970
2	CTCF	chr21:15431854-15432037	MCF-7	breast:	n/a	chr21:15431952-15431970
3	CTCF	chr21:15431913-15431972	LNCaP	prostate:	n/a	chr21:15431952-15431970
4	CTCF	chr21:15432453-15432497	GM12891	blood:	n/a	n/a
5	CTCF	chr21:15431863-15432018	MCF-7	breast:	n/a	chr21:15431952-15431970
6	CTCF	chr21:15432498-15432500	GM12891	blood:	n/a	n/a
7	CTCF	chr21:15430385-15430503	GM13976	blood:	n/a	n/a
8	CTCF	chr21:15431858-15432007	MCF-7	breast:	n/a	chr21:15431952-15431970
9	CTCF	chr21:15431909-15431934	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr21:15431847-15432024	MCF-7	breast:	n/a	chr21:15431952-15431970
11	FOS	chr21:15430132-15430472	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr21:15430183-15430472	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr21:15430131-15430482	HepG2	liver:	n/a	n/a
14	FOSL2	chr21:15430006-15430398	SK-N-SH	brain:	n/a	n/a
15	JUND	chr21:15430201-15430406	SK-N-SH	brain:	n/a	n/a
16	MAFK	chr21:15430241-15430402	HepG2	liver:	n/a	n/a
17	MAFK	chr21:15430295-15430329	Hela-S3	cervix:	n/a	n/a
18	MAX	chr21:15430248-15430457	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr21:15430276-15430444	Hela-S3	cervix:	n/a	n/a
20	MYC	chr21:15430299-15430472	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr21:15431504-15431644	MCF-7	breast:	n/a	n/a
22	POLR2A	chr21:15431452-15431640	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:15430670-15431087	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr21:15430431-15430549	Gliobla	brain:	n/a	n/a
25	POLR2A	chr21:15431485-15431587	MCF-7	breast:	n/a	n/a
26	POLR2A	chr21:15430175-15430422	U87	brain:	n/a	n/a
27	RCOR1	chr21:15430279-15430414	Hela-S3	cervix:	n/a	n/a
28	REST	chr21:15430135-15430339	Hela-S3	cervix:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
29	REST	chr21:15430083-15430382	SK-N-SH	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
30	REST	chr21:15430156-15430402	SK-N-SH	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
31	REST	chr21:15430033-15430522	U87	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
32	REST	chr21:15430139-15430347	Hela-S3	cervix:	n/a	chr21:15430251-15430271 chr21:15430251-15430265
33	REST	chr21:15429987-15430554	U87	brain:	n/a	chr21:15430251-15430271 chr21:15430251-15430265

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15432857-15432907	PANC-1	pancreas:	n/a
2	chr21:15432857-15432907	PANC-1	pancreas:	n/a
3	chr21:15432857-15432907	AG09309	skin:	n/a
4	chr21:15432857-15432907	Hela-S3	cervix:	n/a
5	chr21:15432857-15432907	Hepatocyte	liver:	n/a
6	chr21:15432857-15432907	A549	lung:	n/a
7	chr21:15432857-15432907	HMEC	breast:	n/a
8	chr21:15432857-15432907	HL-60	blood:	n/a
9	chr21:15432857-15432907	RPTEC	kidney:	n/a
10	chr21:15432857-15432907	HRCEpiC	kidney:	n/a
11	chr21:15432857-15432907	GM06990	blood:	n/a
12	chr21:15432857-15432907	GM12878	blood:	n/a
13	chr21:15432857-15432907	HEEpiC	esophagus:	n/a
14	chr21:15432857-15432907	MCF10A-Er-Src	breast:	n/a
15	chr21:15432857-15432907	BE2_C	brain:	n/a
16	chr21:15432857-15432907	H1-hESC	embryonic stem cell:	embryo
17	chr21:15432857-15432907	HRE	kidney:	n/a
18	chr21:15432857-15432907	SKMC	muscle:	n/a
19	chr21:15432857-15432907	SAEC	small airway:	n/a
20	chr21:15432857-15432907	SK-N-SH	brain:	n/a
21	chr21:15432857-15432907	ECC-1	luminal epithelium:	n/a
22	chr21:15432857-15432907	HCT-116	colon:	n/a
23	chr21:15432857-15432907	ovcar-3	ovarian:	n/a
24	chr21:15432857-15432907	GM12892	blood:	n/a
25	chr21:15432857-15432907	AG09319	gingival:	n/a
26	chr21:15432857-15432907	HEK293	kidney:	embryo
27	chr21:15432857-15432907	HNPCEpiC	eye:	n/a
28	chr21:15432857-15432907	GM19239	blood:	n/a
29	chr21:15432857-15432907	SK-N-SH_RA	brain:	n/a
30	chr21:15432857-15432907	HPAEpiC	pulmonary alveolar:	n/a
31	chr21:15432857-15432907	AoSMC	blood vessel:	n/a
32	chr21:15432857-15432907	LNCaP	prostate:	n/a
33	chr21:15432857-15432907	PrEC	prostate:	n/a
34	chr21:15432857-15432907	NHDF-neo	bronchial:	n/a
35	chr21:15432857-15432907	AG04450	lung:	fetal
36	chr21:15432857-15432907	HRPEpiC	eye:	n/a
37	chr21:15432857-15432907	GM12891	blood:	n/a
38	chr21:15432857-15432907	IMR90	lung:	fetal
39	chr21:15432857-15432907	HCPEpiC	choroid plexus:	n/a
40	chr21:15432857-15432907	PFSK-1	brain:	n/a
41	chr21:15432857-15432907	NB4	blood:	n/a
42	chr21:15432857-15432907	NH-A	brain:	n/a
43	chr21:15432857-15432907	MCF-7	breast:	n/a
44	chr21:15432857-15432907	AG10803	skin:	n/a
45	chr21:15432857-15432907	BJ	skin:	n/a
46	chr21:15432857-15432907	U87	brain:	n/a
47	chr21:15432857-15432907	HUVEC	blood vessel:	n/a
48	chr21:15432857-15432907	T-47D	breast:	n/a
49	chr21:15432857-15432907	HAEpiC	amniotic membrane:	n/a
50	chr21:15432857-15432907	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ANKRD20A18P	TF binding region
ANKRD20A18P	CpG island

Extended variants
information (count: 141 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113691622	chr21:15430147-15430148	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113075876	chr21:15430187-15430188	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117897638	chr21:15430205-15430206	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114156226	chr21:15430210-15430211	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565160292	chr21:15430213-15430214	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527619606	chr21:15430250-15430251	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576633022	chr21:15430253-15430254	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544678658	chr21:15430293-15430294	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547175763	chr21:15430299-15430300	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567166908	chr21:15430330-15430331	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529739795	chr21:15430365-15430366	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564866649	chr21:15430372-15430373	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549422008	chr21:15430447-15430448	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569657272	chr21:15430454-15430455	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367773107	chr21:15430465-15430466	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371898744	chr21:15430478-15430479	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558287938	chr21:15430511-15430512	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs151290086	chr21:15430514-15430515	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535372248	chr21:15430516-15430517	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375358188	chr21:15430566-15430567	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369983816	chr21:15430567-15430568	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs202212632	chr21:15430598-15430599	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372088981	chr21:15430612-15430613	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370089744	chr21:15430618-15430619	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575131694	chr21:15430648-15430649	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373130880	chr21:15430684-15430685	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs9636733	chr21:15430685-15430686	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557392992	chr21:15430689-15430690	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561092978	chr21:15430696-15430697	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs35827720	chr21:15430711-15430712	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs549909852	chr21:15430787-15430788	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540601966	chr21:15430848-15430849	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559523555	chr21:15430875-15430876	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572297733	chr21:15430897-15430898	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147776451	chr21:15430914-15430915	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79194662	chr21:15430983-15430984	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77033905	chr21:15430991-15430992	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560855426	chr21:15431003-15431004	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141164576	chr21:15431007-15431008	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79367448	chr21:15431009-15431010	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563365708	chr21:15431047-15431048	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377228649	chr21:15431089-15431090	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370131688	chr21:15431109-15431110	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79686916	chr21:15431136-15431137	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79061500	chr21:15431139-15431140	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373447530	chr21:15431143-15431144	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565579212	chr21:15431145-15431146	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535331719	chr21:15431153-15431154	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373059634	chr21:15431163-15431164	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376291271	chr21:15431170-15431171	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15402600-15442400	Weak transcription	Dnd41	blood
3	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15427000-15431400	Enhancers	Esophagus	oesophagus
8	chr21:15427000-15432000	ZNF genes & repeats	Fetal Stomach	stomach
9	chr21:15427000-15433000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr21:15427200-15430200	Enhancers	Rectal Smooth Muscle	rectum
11	chr21:15427200-15431200	Enhancers	Hela-S3	cervix
12	chr21:15427200-15436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:15427800-15431200	Enhancers	Stomach Smooth Muscle	stomach
14	chr21:15428200-15436000	Weak transcription	Right Atrium	heart
15	chr21:15428400-15430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:15428800-15430800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
17	chr21:15428800-15431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:15428800-15432200	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
20	chr21:15429000-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:15429000-15431800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:15429200-15430200	Enhancers	Colon Smooth Muscle	Colon
23	chr21:15429200-15433800	Weak transcription	Thymus	Thymus
24	chr21:15429200-15436000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:15429400-15431400	Weak transcription	Lung	lung
26	chr21:15429400-15436000	Weak transcription	Pancreas	Pancrea
27	chr21:15429600-15430400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:15429600-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:15429600-15431400	Weak transcription	Gastric	stomach
30	chr21:15429800-15431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:15429800-15431200	Enhancers	HMEC	breast
32	chr21:15429800-15431600	Weak transcription	Ovary	ovary
33	chr21:15430000-15430400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:15430000-15430400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:15430000-15430400	Enhancers	A549	lung
36	chr21:15430000-15430800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:15430000-15431000	Weak transcription	Spleen	Spleen
38	chr21:15430000-15431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:15430400-15431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:15430400-15432600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr21:15430400-15433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:15430400-15442400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:15430600-15431000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:15430800-15431000	Enhancers	Right Ventricle	heart
45	chr21:15431000-15431400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:15431000-15431800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr21:15431000-15431800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:15431000-15431800	Enhancers	Spleen	Spleen
49	chr21:15431000-15436000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:15431200-15436000	Weak transcription	Stomach Smooth Muscle	stomach

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