Variant report

Variant	nsv976920
Chromosome Location	chr15:35413394-35416762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:184)
Chromatin interactive
region (count:1)
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	chr15:35415525-35415533	K562	blood:	n/a	n/a
2	GABPA	chr15:35414277-35414430	HepG2	liver:	n/a	n/a
3	GATA3	chr15:35415847-35416399	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr15:35415876-35416334	SK-N-SH	brain:	n/a	n/a
5	KAP1	chr15:35415962-35416109	K562	blood:	n/a	n/a
6	PBX3	chr15:35415992-35416293	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr15:35415995-35416398	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr15:35414339-35414424	A549	lung:	n/a	n/a
9	POLR2A	chr15:35413349-35413593	A549	lung:	n/a	n/a
10	POLR2A	chr15:35413616-35413729	A549	lung:	n/a	n/a
11	POLR2A	chr15:35414196-35414418	Gliobla	brain:	n/a	n/a
12	POLR2A	chr15:35414174-35414421	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:35414201-35414406	A549	lung:	n/a	n/a
14	POLR2A	chr15:35414342-35414419	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:35414186-35414200	A549	lung:	n/a	n/a
16	POLR2A	chr15:35414332-35414420	A549	lung:	n/a	n/a
17	POLR2A	chr15:35414326-35414419	A549	lung:	n/a	n/a
18	POLR2A	chr15:35414324-35414444	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:35414204-35414416	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:35414247-35414414	HUVEC	blood vessel:	n/a	n/a
21	TAF1	chr15:35414274-35414456	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:35414083-35414133	AG09319	gingival:	n/a
2	chr15:35414083-35414133	AG09319	gingival:	n/a
3	chr15:35413975-35414025	HMEC	breast:	n/a
4	chr15:35414228-35414278	SK-N-SH_RA	brain:	n/a
5	chr15:35413975-35414025	GM12892	blood:	n/a
6	chr15:35414083-35414133	Jurkat	blood:	n/a
7	chr15:35414083-35414133	HMEC	breast:	n/a
8	chr15:35414083-35414133	HRE	kidney:	n/a
9	chr15:35414083-35414133	Hepatocyte	liver:	n/a
10	chr15:35414228-35414278	HCM	heart:	n/a
11	chr15:35414083-35414133	A549	lung:	n/a
12	chr15:35413975-35414025	LNCaP	prostate:	n/a
13	chr15:35414228-35414278	HCT-116	colon:	n/a
14	chr15:35414228-35414278	PFSK-1	brain:	n/a
15	chr15:35414083-35414133	HL-60	blood:	n/a
16	chr15:35414228-35414278	CMK	blood:	n/a
17	chr15:35414228-35414278	HRCEpiC	kidney:	n/a
18	chr15:35414228-35414278	GM12878	blood:	n/a
19	chr15:35414083-35414133	PrEC	prostate:	n/a
20	chr15:35413975-35414025	PFSK-1	brain:	n/a
21	chr15:35414083-35414133	ECC-1	luminal epithelium:	n/a
22	chr15:35414228-35414278	HNPCEpiC	eye:	n/a
23	chr15:35413975-35414025	NHBE	bronchial:	n/a
24	chr15:35414083-35414133	HEK293	kidney:	embryo
25	chr15:35413975-35414025	HUVEC	blood vessel:	n/a
26	chr15:35414083-35414133	SK-N-SH_RA	brain:	n/a
27	chr15:35413975-35414025	PANC-1	pancreas:	n/a
28	chr15:35413975-35414025	MCF-7	breast:	n/a
29	chr15:35414083-35414133	HEEpiC	esophagus:	n/a
30	chr15:35414228-35414278	AoSMC	blood vessel:	n/a
31	chr15:35414228-35414278	HIPEpiC	eye:	n/a
32	chr15:35413975-35414025	U87	brain:	n/a
33	chr15:35414083-35414133	NT2-D1	testis:	n/a
34	chr15:35414228-35414278	AG04450	lung:	fetal
35	chr15:35414083-35414133	SK-N-MC	brain:	n/a
36	chr15:35413975-35414025	NH-A	brain:	n/a
37	chr15:35413975-35414025	HepG2	liver:	n/a
38	chr15:35414083-35414133	SKMC	muscle:	n/a
39	chr15:35414228-35414278	Caco-2	colon:	n/a
40	chr15:35414083-35414133	H1-hESC	embryonic stem cell:	embryo
41	chr15:35413975-35414025	BE2_C	brain:	n/a
42	chr15:35414228-35414278	GM12891	blood:	n/a
43	chr15:35414228-35414278	Hepatocyte	liver:	n/a
44	chr15:35414083-35414133	HIPEpiC	eye:	n/a
45	chr15:35414083-35414133	K562	blood:	n/a
46	chr15:35414228-35414278	ovcar-3	ovarian:	n/a
47	chr15:35414083-35414133	CMK	blood:	n/a
48	chr15:35413975-35414025	A549	lung:	n/a
49	chr15:35414228-35414278	K562	blood:	n/a
50	chr15:35414228-35414278	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35405163..35407322-chr15:35410998..35413747,2	K562	blood:

No data

Variant related genes	Relation type
PRELID1P4	TF binding region
PRELID1P4	CpG island

Extended variants
information (count: 134 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187474476	chr15:35413396-35413397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6495756	chr15:35413424-35413425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190485081	chr15:35413430-35413431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71466803	chr15:35413458-35413459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558920400	chr15:35413485-35413486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577097813	chr15:35413506-35413507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146118744	chr15:35413507-35413508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543907008	chr15:35413511-35413512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574481270	chr15:35413519-35413520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111602539	chr15:35413526-35413527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541417792	chr15:35413529-35413530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560106144	chr15:35413576-35413577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138922161	chr15:35413595-35413596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546069652	chr15:35413662-35413663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116763024	chr15:35413697-35413698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531780428	chr15:35413723-35413724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114731205	chr15:35413727-35413728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568416266	chr15:35413743-35413744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1809257	chr15:35413783-35413784	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531184817	chr15:35413784-35413785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1809256	chr15:35413798-35413799	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142053456	chr15:35413800-35413801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1809255	chr15:35413805-35413806	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182669206	chr15:35413814-35413815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540701600	chr15:35413819-35413820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537990531	chr15:35413832-35413833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556399839	chr15:35413840-35413841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528463366	chr15:35413899-35413900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541933417	chr15:35413922-35413923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150842634	chr15:35413951-35413952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139266335	chr15:35413960-35413961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545436031	chr15:35413990-35413991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186847110	chr15:35414021-35414022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531886774	chr15:35414028-35414029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs1809254	chr15:35414029-35414030	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553141348	chr15:35414049-35414050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562323686	chr15:35414055-35414056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs373850858	chr15:35414084-35414085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529490745	chr15:35414127-35414128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547853729	chr15:35414128-35414129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1809253	chr15:35414188-35414189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs533360773	chr15:35414228-35414229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs736072	chr15:35414300-35414301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554300650	chr15:35414314-35414315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs114126347	chr15:35414371-35414372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538151281	chr15:35414374-35414375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs192716621	chr15:35414383-35414384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568227632	chr15:35414415-35414416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs58182028	chr15:35414460-35414461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535327912	chr15:35414463-35414464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35401200-35415000	Weak transcription	Adipose Nuclei	Adipose
2	chr15:35407600-35415600	Weak transcription	Pancreas	Pancrea
3	chr15:35410000-35413800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:35411600-35413400	Weak transcription	Aorta	Aorta
5	chr15:35412400-35414800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:35412800-35414600	Weak transcription	Fetal Intestine Large	intestine
7	chr15:35412800-35415400	Weak transcription	Right Ventricle	heart
8	chr15:35413200-35419400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:35413400-35414000	Strong transcription	Aorta	Aorta
10	chr15:35414000-35414200	ZNF genes & repeats	Fetal Stomach	stomach
11	chr15:35414000-35431000	Weak transcription	Aorta	Aorta
12	chr15:35414200-35416800	Weak transcription	Fetal Stomach	stomach

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