Variant report

Variant	nsv945415
Chromosome Location	chr1:242935804-242940170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:123)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr1:242937040-242937550	K562	blood:	n/a	n/a
2	NFYB	chr1:242936915-242937552	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:242939164-242940270	K562	blood:	n/a	n/a
4	POLR2A	chr1:242939031-242939231	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:242938237-242938877	K562	blood:	n/a	n/a
6	POLR2A	chr1:242936319-242936500	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242937866-242937916	U87	brain:	n/a
2	chr1:242937866-242937916	U87	brain:	n/a
3	chr1:242936925-242936975	ProgFib	skin:	n/a
4	chr1:242937866-242937916	HCF	heart:	n/a
5	chr1:242937866-242937916	SAEC	small airway:	n/a
6	chr1:242936925-242936975	CMK	blood:	n/a
7	chr1:242937866-242937916	HCM	heart:	n/a
8	chr1:242936925-242936975	NHBE	bronchial:	n/a
9	chr1:242936925-242936975	HCT-116	colon:	n/a
10	chr1:242937866-242937916	K562	blood:	n/a
11	chr1:242936925-242936975	HNPCEpiC	eye:	n/a
12	chr1:242936925-242936975	HRCEpiC	kidney:	n/a
13	chr1:242936925-242936975	HEEpiC	esophagus:	n/a
14	chr1:242937866-242937916	NHDF-neo	bronchial:	n/a
15	chr1:242936925-242936975	SK-N-SH	brain:	n/a
16	chr1:242936925-242936975	SK-N-SH_RA	brain:	n/a
17	chr1:242937866-242937916	AG09319	gingival:	n/a
18	chr1:242936925-242936975	U87	brain:	n/a
19	chr1:242937866-242937916	RPTEC	kidney:	n/a
20	chr1:242936925-242936975	HRPEpiC	eye:	n/a
21	chr1:242936925-242936975	HRE	kidney:	n/a
22	chr1:242936925-242936975	AG09319	gingival:	n/a
23	chr1:242937866-242937916	Caco-2	colon:	n/a
24	chr1:242936925-242936975	MCF-7	breast:	n/a
25	chr1:242937866-242937916	Jurkat	blood:	n/a
26	chr1:242936925-242936975	NHDF-neo	bronchial:	n/a
27	chr1:242936925-242936975	GM12892	blood:	n/a
28	chr1:242936925-242936975	PANC-1	pancreas:	n/a
29	chr1:242936925-242936975	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:242936925-242936975	IMR90	lung:	fetal
31	chr1:242937866-242937916	ProgFib	skin:	n/a
32	chr1:242937866-242937916	GM06990	blood:	n/a
33	chr1:242937866-242937916	Hepatocyte	liver:	n/a
34	chr1:242936925-242936975	K562	blood:	n/a
35	chr1:242937866-242937916	BJ	skin:	n/a
36	chr1:242937866-242937916	SK-N-SH	brain:	n/a
37	chr1:242936925-242936975	Hepatocyte	liver:	n/a
38	chr1:242937866-242937916	A549	lung:	n/a
39	chr1:242937866-242937916	HepG2	liver:	n/a
40	chr1:242937866-242937916	MCF-7	breast:	n/a
41	chr1:242936925-242936975	SKMC	muscle:	n/a
42	chr1:242937866-242937916	HUVEC	blood vessel:	n/a
43	chr1:242937866-242937916	HEK293	kidney:	embryo
44	chr1:242936925-242936975	Jurkat	blood:	n/a
45	chr1:242936925-242936975	SK-N-MC	brain:	n/a
46	chr1:242936925-242936975	AG09309	skin:	n/a
47	chr1:242937866-242937916	HMEC	breast:	n/a
48	chr1:242936925-242936975	HCF	heart:	n/a
49	chr1:242937866-242937916	NT2-D1	testis:	n/a
50	chr1:242936925-242936975	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:

No data

Variant related genes	Relation type
RSL24D1P4	TF binding region
RSL24D1P4	CpG island

Extended variants
information (count: 109 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558262364	chr1:242937607-242937608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs10926851	chr1:242937621-242937622	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543561927	chr1:242937648-242937649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556276298	chr1:242937661-242937662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185363439	chr1:242937667-242937668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs541685353	chr1:242937670-242937671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12745561	chr1:242937696-242937697	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375340700	chr1:242937728-242937729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190863050	chr1:242937751-242937752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs61843063	chr1:242937758-242937759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs577713412	chr1:242937768-242937769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540669938	chr1:242937776-242937777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111292700	chr1:242937777-242937778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563831802	chr1:242937780-242937781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367930353	chr1:242937789-242937790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369187119	chr1:242937790-242937791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12036091	chr1:242937818-242937819	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563879769	chr1:242937847-242937848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183022925	chr1:242937854-242937855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs548398570	chr1:242937858-242937859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34071752	chr1:242937859-242937860	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188462901	chr1:242937863-242937864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535014759	chr1:242937866-242937867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192684033	chr1:242937886-242937887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373443521	chr1:242937888-242937889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537522985	chr1:242937893-242937894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs117500449	chr1:242937897-242937898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576167934	chr1:242937898-242937899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535293282	chr1:242937938-242937939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555237042	chr1:242938008-242938009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116307143	chr1:242938009-242938010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540938582	chr1:242938020-242938021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564065435	chr1:242938025-242938026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183011234	chr1:242938026-242938027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142614479	chr1:242938027-242938028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563274129	chr1:242938046-242938047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187297635	chr1:242938050-242938051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192598269	chr1:242938141-242938142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549645750	chr1:242938164-242938165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184576459	chr1:242938192-242938193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377438279	chr1:242938225-242938226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552123896	chr1:242938230-242938231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151017135	chr1:242938266-242938267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370866913	chr1:242938285-242938286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375781218	chr1:242938316-242938317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551030150	chr1:242938326-242938327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189210750	chr1:242938347-242938348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2039445	chr1:242938372-242938373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555104611	chr1:242938414-242938415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571916544	chr1:242938464-242938465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242937600-242938000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242938000-242939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242939800-242940000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:242940000-242940400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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