Variant report

Variant	nsv913389
Chromosome Location	chr21:15215814-15275981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
2	BCL11A	chr21:15223481-15223715	GM12878	blood:	n/a	n/a
3	CHD2	chr21:15227020-15227192	K562	blood:	n/a	n/a
4	CTCF	chr21:15224171-15224211	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr21:15272673-15272747	GM13976	blood:	n/a	n/a
6	CTCF	chr21:15223612-15223665	GM12891	blood:	n/a	n/a
7	CTCF	chr21:15259092-15259146	GM10266	blood:	n/a	n/a
8	CTCF	chr21:15223570-15223632	GM13977	blood:	n/a	n/a
9	CTCF	chr21:15252310-15252389	Lung_OC	lung:	n/a	n/a
10	CTCF	chr21:15232571-15232650	LNCaP	prostate:	n/a	n/a
11	CTCF	chr21:15234852-15234914	GM10248	blood:	n/a	n/a
12	CTCF	chr21:15263041-15263087	GM13976	blood:	n/a	n/a
13	CTCF	chr21:15234831-15234848	GM10248	blood:	n/a	n/a
14	CTCF	chr21:15218531-15218613	LNCaP	prostate:	n/a	n/a
15	CTCF	chr21:15233129-15233166	LNCaP	prostate:	n/a	n/a
16	CTCF	chr21:15233169-15233275	GM20000	blood:	n/a	n/a
17	CTCF	chr21:15248231-15248291	LNCaP	prostate:	n/a	n/a
18	CTCF	chr21:15252140-15252204	LNCaP	prostate:	n/a	n/a
19	EGR1	chr21:15246326-15246569	K562	blood:	n/a	n/a
20	EGR1	chr21:15223967-15224112	K562	blood:	n/a	chr21:15224061-15224068
21	ELF1	chr21:15226998-15227276	K562	blood:	n/a	n/a
22	EP300	chr21:15237106-15237393	GM12878	blood:	n/a	n/a
23	EP300	chr21:15274819-15275091	GM12878	blood:	n/a	n/a
24	FOS	chr21:15230093-15230172	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr21:15223408-15223749	HepG2	liver:	n/a	n/a
26	FOSL2	chr21:15257841-15258162	HepG2	liver:	n/a	n/a
27	FOSL2	chr21:15274824-15275111	HepG2	liver:	n/a	n/a
28	FOSL2	chr21:15222113-15222542	HepG2	liver:	n/a	n/a
29	FOSL2	chr21:15275535-15275823	HepG2	liver:	n/a	n/a
30	FOSL2	chr21:15272534-15272800	HepG2	liver:	n/a	n/a
31	FOSL2	chr21:15274024-15274251	HepG2	liver:	n/a	n/a
32	FOSL2	chr21:15238360-15238653	HepG2	liver:	n/a	n/a
33	FOXA2	chr21:15268895-15269235	A549	lung:	n/a	n/a
34	FOXA2	chr21:15268878-15269207	A549	lung:	n/a	n/a
35	FOXA2	chr21:15249352-15249705	A549	lung:	n/a	n/a
36	FOXA2	chr21:15249284-15249688	A549	lung:	n/a	n/a
37	GATA2	chr21:15233215-15233432	K562	blood:	n/a	n/a
38	GATA3	chr21:15268911-15269311	MCF-7	breast:	n/a	n/a
39	GATA3	chr21:15268962-15269449	MCF-7	breast:	n/a	n/a
40	GATA3	chr21:15249339-15249766	MCF-7	breast:	n/a	n/a
41	GATA3	chr21:15268961-15269440	MCF-7	breast:	n/a	n/a
42	JUND	chr21:15257901-15258117	HepG2	liver:	n/a	n/a
43	JUND	chr21:15238358-15238523	HepG2	liver:	n/a	n/a
44	JUND	chr21:15274938-15275054	HepG2	liver:	n/a	n/a
45	MYC	chr21:15222053-15222129	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr21:15249437-15249527	K562	blood:	n/a	n/a
47	MYC	chr21:15249475-15249514	MCF-7	breast:	n/a	n/a
48	NR2F2	chr21:15269011-15269423	MCF-7	breast:	n/a	n/a
49	NR2F2	chr21:15268990-15269266	MCF-7	breast:	n/a	n/a
50	NR3C1	chr21:15249343-15249742	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15221404-15221454	K562	blood:	n/a
2	chr21:15220709-15220759	NHDF-neo	bronchial:	n/a
3	chr21:15221404-15221454	H1-hESC	embryonic stem cell:	embryo
4	chr21:15221404-15221454	HL-60	blood:	n/a
5	chr21:15220709-15220759	NT2-D1	testis:	n/a
6	chr21:15220709-15220759	HRPEpiC	eye:	n/a
7	chr21:15221404-15221454	MCF10A-Er-Src	breast:	n/a
8	chr21:15220709-15220759	HCT-116	colon:	n/a
9	chr21:15221404-15221454	LNCaP	prostate:	n/a
10	chr21:15221404-15221454	HRE	kidney:	n/a
11	chr21:15220709-15220759	GM12892	blood:	n/a
12	chr21:15221404-15221454	AG10803	skin:	n/a
13	chr21:15221404-15221454	PrEC	prostate:	n/a
14	chr21:15220709-15220759	A549	lung:	n/a
15	chr21:15220709-15220759	GM19239	blood:	n/a
16	chr21:15220709-15220759	HEEpiC	esophagus:	n/a
17	chr21:15221404-15221454	IMR90	lung:	fetal
18	chr21:15221404-15221454	GM19239	blood:	n/a
19	chr21:15221404-15221454	HUVEC	blood vessel:	n/a
20	chr21:15221404-15221454	CMK	blood:	n/a
21	chr21:15220709-15220759	PFSK-1	brain:	n/a
22	chr21:15221404-15221454	HRPEpiC	eye:	n/a
23	chr21:15220709-15220759	HIPEpiC	eye:	n/a
24	chr21:15221404-15221454	PANC-1	pancreas:	n/a
25	chr21:15221404-15221454	ovcar-3	ovarian:	n/a
26	chr21:15220709-15220759	HEK293	kidney:	embryo
27	chr21:15220709-15220759	HUVEC	blood vessel:	n/a
28	chr21:15220709-15220759	HCM	heart:	n/a
29	chr21:15220709-15220759	SKMC	muscle:	n/a
30	chr21:15221404-15221454	SK-N-SH_RA	brain:	n/a
31	chr21:15220709-15220759	LNCaP	prostate:	n/a
32	chr21:15221404-15221454	HPAEpiC	pulmonary alveolar:	n/a
33	chr21:15221404-15221454	HepG2	liver:	n/a
34	chr21:15221404-15221454	AG09309	skin:	n/a
35	chr21:15221404-15221454	HRCEpiC	kidney:	n/a
36	chr21:15220709-15220759	PrEC	prostate:	n/a
37	chr21:15221404-15221454	T-47D	breast:	n/a
38	chr21:15221404-15221454	HIPEpiC	eye:	n/a
39	chr21:15220709-15220759	Hepatocyte	liver:	n/a
40	chr21:15221404-15221454	HCF	heart:	n/a
41	chr21:15220709-15220759	H1-hESC	embryonic stem cell:	embryo
42	chr21:15220709-15220759	MCF10A-Er-Src	breast:	n/a
43	chr21:15220709-15220759	HMEC	breast:	n/a
44	chr21:15221404-15221454	GM12878	blood:	n/a
45	chr21:15220709-15220759	HepG2	liver:	n/a
46	chr21:15220709-15220759	HPAEpiC	pulmonary alveolar:	n/a
47	chr21:15220709-15220759	HRE	kidney:	n/a
48	chr21:15220709-15220759	BE2_C	brain:	n/a
49	chr21:15221404-15221454	Caco-2	colon:	n/a
50	chr21:15220709-15220759	K562	blood:	n/a

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-7	chr21:15217326-15217595	NONHSAT081124
2	lnc-LIPI-7	chr21:15220411-15220685	NONHSAT081124
3	lnc-LIPI-7	chr21:15219080-15219270	NONHSAT081124
4	lnc-POTED-9	chr21:15240747-15241288	NONHSAT081122
5	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129
6	lnc-LIPI-7	chr21:15216343-15216456	NONHSAT081124
7	lnc-LIPI-7	chr21:15218334-15218462	NONHSAT081124
8	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
9	lnc-LIPI-7	chr21:15217426-15217595	NONHSAT081125
10	lnc-LIPI-7	chr21:15218334-15218713	NONHSAT081125
11	lnc-LIPI-7	chr21:15216343-15216385	NONHSAT147184

No data

Variant related genes	Relation type
CYP4F29P	TF binding region
CYP4F29P	CpG island

Extended variants
information (count: 2677 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2677 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574452210	chr21:15216379-15216380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557678362	chr21:15216390-15216391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563261232	chr21:15216391-15216392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532021934	chr21:15216396-15216397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs193219374	chr21:15216414-15216415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs560086778	chr21:15216437-15216438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540344978	chr21:15217343-15217344	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs111826364	chr21:15217389-15217390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs199664942	chr21:15217427-15217428	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549405310	chr21:15217454-15217455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568256848	chr21:15217460-15217461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4046619	chr21:15217462-15217463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs113010584	chr21:15217472-15217473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs374545624	chr21:15217500-15217501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs550482006	chr21:15217515-15217516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs58496338	chr21:15217551-15217552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539508747	chr21:15217568-15217569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2775972	chr21:15217578-15217579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533297551	chr21:15218348-15218349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546793098	chr21:15218351-15218352	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs560409236	chr21:15218369-15218370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs141923031	chr21:15218373-15218374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555484579	chr21:15218379-15218380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs113320689	chr21:15218380-15218381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182215673	chr21:15218386-15218387	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs60989409	chr21:15218387-15218388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs2092890	chr21:15218391-15218392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2878250	chr21:15218408-15218409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs3117465	chr21:15218416-15218417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs2334714	chr21:15218425-15218426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs2334715	chr21:15218436-15218437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149481432	chr21:15218450-15218451	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112133877	chr21:15218462-15218463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs2334716	chr21:15218479-15218480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs371717148	chr21:15218494-15218495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200326347	chr21:15218498-15218499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs4046605	chr21:15218499-15218500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2334717	chr21:15218525-15218526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2334718	chr21:15218531-15218532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs553922252	chr21:15218539-15218540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs112232768	chr21:15218549-15218550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540448248	chr21:15218563-15218564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs147839947	chr21:15218570-15218571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs556614700	chr21:15218576-15218577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs576498789	chr21:15218587-15218588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs76607731	chr21:15218598-15218599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs2334719	chr21:15218666-15218667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs9977603	chr21:15218674-15218675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs577974391	chr21:15218698-15218699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs150981993	chr21:15218708-15218709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15223800-15224000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr21:15235200-15235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr21:15245200-15246200	Weak transcription	Dnd41	blood
5	chr21:15246200-15247600	Enhancers	Dnd41	blood
6	chr21:15247600-15256200	Weak transcription	Dnd41	blood
7	chr21:15249400-15250200	Enhancers	K562	blood
8	chr21:15250200-15250600	Weak transcription	K562	blood
9	chr21:15250600-15250800	Enhancers	K562	blood
10	chr21:15250800-15252400	Weak transcription	K562	blood
11	chr21:15252400-15253000	Enhancers	K562	blood
12	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
13	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
14	chr21:15256200-15256600	Enhancers	Dnd41	blood
15	chr21:15256600-15265600	Weak transcription	Dnd41	blood
16	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
17	chr21:15265600-15267000	Enhancers	Dnd41	blood
18	chr21:15269000-15269400	Enhancers	K562	blood
19	chr21:15269200-15269400	Enhancers	Lung	lung
20	chr21:15269200-15269400	Enhancers	A549	lung
21	chr21:15270000-15270400	Active TSS	Fetal Heart	heart
22	chr21:15275200-15276000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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