Variant report

Variant	nsv945347
Chromosome Location	chr1:228152156-228173369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:672)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:228160603-228160747	HepG2	liver:	n/a	n/a
2	BHLHE40	chr1:228160543-228160802	K562	blood:	n/a	n/a
3	CBX3	chr1:228160219-228160822	K562	blood:	n/a	n/a
4	CBX3	chr1:228160563-228160812	K562	blood:	n/a	n/a
5	CEBPB	chr1:228172659-228172922	K562	blood:	n/a	n/a
6	CEBPB	chr1:228154628-228154782	A549	lung:	n/a	n/a
7	CEBPB	chr1:228160545-228160835	K562	blood:	n/a	n/a
8	CEBPB	chr1:228160546-228160844	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:228154597-228154797	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:228160485-228160855	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr1:228154604-228154762	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:228160473-228160779	K562	blood:	n/a	n/a
13	CEBPB	chr1:228160538-228160851	HepG2	liver:	n/a	n/a
14	CEBPB	chr1:228160599-228160751	K562	blood:	n/a	n/a
15	CTCF	chr1:228158194-228158408	K562	blood:	n/a	n/a
16	CTCF	chr1:228155694-228155753	A549	lung:	n/a	n/a
17	CTCF	chr1:228154500-228154650	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr1:228155679-228155770	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:228155920-228156070	GM12869	blood:	n/a	n/a
20	CTCF	chr1:228154500-228154650	AG09319	gingival:	n/a	n/a
21	CTCF	chr1:228158300-228158409	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:228154520-228154670	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr1:228155660-228155810	NB4	blood:	n/a	n/a
24	CTCF	chr1:228155620-228155770	GM12875	blood:	n/a	n/a
25	CTCF	chr1:228155600-228155750	BJ	skin:	n/a	n/a
26	CTCF	chr1:228155640-228155790	AG04449	skin:	n/a	n/a
27	CTCF	chr1:228154520-228154670	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr1:228155575-228155973	K562	blood:	n/a	n/a
29	CTCF	chr1:228155551-228155796	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:228155660-228155810	HCT-116	colon:	n/a	n/a
31	CTCF	chr1:228155640-228155790	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr1:228154440-228154590	HAc	cerebellar:	n/a	n/a
33	CTCF	chr1:228154540-228154690	HCT-116	colon:	n/a	n/a
34	CTCF	chr1:228154520-228154670	HMEC	breast:	n/a	n/a
35	CTCF	chr1:228162301-228162516	K562	blood:	n/a	chr1:228162403-228162416
36	CTCF	chr1:228155620-228155770	NHEK	skin:	n/a	n/a
37	CTCF	chr1:228155660-228155810	HMEC	breast:	n/a	n/a
38	CTCF	chr1:228155640-228155790	GM12871	blood:	n/a	n/a
39	CTCF	chr1:228154520-228154670	BE2_C	brain:	n/a	n/a
40	CTCF	chr1:228154449-228154871	K562	blood:	n/a	n/a
41	CTCF	chr1:228155591-228155875	GM12878	blood:	n/a	n/a
42	CTCF	chr1:228155640-228155790	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr1:228155640-228155790	GM12872	blood:	n/a	n/a
44	CTCF	chr1:228155660-228155810	GM12864	blood:	n/a	n/a
45	CTCF	chr1:228162220-228162370	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr1:228155640-228155790	GM06990	blood:	n/a	n/a
47	CTCF	chr1:228155677-228155772	Gliobla	brain:	n/a	n/a
48	CTCF	chr1:228155503-228156162	K562	blood:	n/a	n/a
49	CTCF	chr1:228155640-228155790	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr1:228154520-228154670	AG10803	skin:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228159121-228159171	GM12878	blood:	n/a
2	chr1:228159121-228159171	GM12878	blood:	n/a
3	chr1:228160601-228160651	HUVEC	blood vessel:	n/a
4	chr1:228154769-228154819	NH-A	brain:	n/a
5	chr1:228165142-228165192	IMR90	lung:	fetal
6	chr1:228161552-228161602	HRCEpiC	kidney:	n/a
7	chr1:228154769-228154819	GM12878	blood:	n/a
8	chr1:228160960-228161010	CMK	blood:	n/a
9	chr1:228154769-228154819	ovcar-3	ovarian:	n/a
10	chr1:228160960-228161010	PFSK-1	brain:	n/a
11	chr1:228161851-228161901	AG09319	gingival:	n/a
12	chr1:228161851-228161901	NB4	blood:	n/a
13	chr1:228160204-228160254	PANC-1	pancreas:	n/a
14	chr1:228161436-228161486	NT2-D1	testis:	n/a
15	chr1:228160204-228160254	AoSMC	blood vessel:	n/a
16	chr1:228161851-228161901	Jurkat	blood:	n/a
17	chr1:228161851-228161901	HCPEpiC	choroid plexus:	n/a
18	chr1:228160601-228160651	SKMC	muscle:	n/a
19	chr1:228160204-228160254	SK-N-SH_RA	brain:	n/a
20	chr1:228159121-228159171	T-47D	breast:	n/a
21	chr1:228160960-228161010	ECC-1	luminal epithelium:	n/a
22	chr1:228160960-228161010	HRE	kidney:	n/a
23	chr1:228160601-228160651	BJ	skin:	n/a
24	chr1:228161436-228161486	AG09309	skin:	n/a
25	chr1:228161476-228161526	NT2-D1	testis:	n/a
26	chr1:228160960-228161010	HAEpiC	amniotic membrane:	n/a
27	chr1:228160204-228160254	HCF	heart:	n/a
28	chr1:228161476-228161526	BJ	skin:	n/a
29	chr1:228165142-228165192	NHBE	bronchial:	n/a
30	chr1:228166152-228166202	ProgFib	skin:	n/a
31	chr1:228165142-228165192	SKMC	muscle:	n/a
32	chr1:228160204-228160254	AG10803	skin:	n/a
33	chr1:228154769-228154819	HRCEpiC	kidney:	n/a
34	chr1:228166152-228166202	T-47D	breast:	n/a
35	chr1:228160960-228161010	AG09319	gingival:	n/a
36	chr1:228160204-228160254	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:228165142-228165192	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:228165142-228165192	AG09309	skin:	n/a
39	chr1:228154769-228154819	HCPEpiC	choroid plexus:	n/a
40	chr1:228161436-228161486	K562	blood:	n/a
41	chr1:228154769-228154819	Hepatocyte	liver:	n/a
42	chr1:228161436-228161486	NB4	blood:	n/a
43	chr1:228165142-228165192	AG04449	skin:	fetal
44	chr1:228165142-228165192	HepG2	liver:	n/a
45	chr1:228165142-228165192	MCF-7	breast:	n/a
46	chr1:228160960-228161010	ovcar-3	ovarian:	n/a
47	chr1:228161436-228161486	GM12891	blood:	n/a
48	chr1:228165142-228165192	AG09319	gingival:	n/a
49	chr1:228161436-228161486	HIPEpiC	eye:	n/a
50	chr1:228161476-228161526	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
CICP26	TF binding region
CICP26	CpG island

Extended variants
information (count: 545 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199525049	chr1:228154050-228154051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558244584	chr1:228154056-228154057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564712772	chr1:228154159-228154160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186552998	chr1:228154220-228154221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190895242	chr1:228154222-228154223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183092588	chr1:228154228-228154229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187728214	chr1:228154253-228154254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112895549	chr1:228154265-228154266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368418637	chr1:228154280-228154281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543305700	chr1:228154291-228154292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143620750	chr1:228154320-228154321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531927433	chr1:228154360-228154361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550365033	chr1:228154421-228154422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565379552	chr1:228154495-228154496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532609953	chr1:228154538-228154539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192280682	chr1:228154547-228154548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199699174	chr1:228154550-228154551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148066310	chr1:228154603-228154604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548449096	chr1:228154605-228154606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569578140	chr1:228154637-228154638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183334086	chr1:228154703-228154704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536867855	chr1:228154751-228154752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2313121	chr1:228154761-228154762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74143605	chr1:228154769-228154770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372733748	chr1:228154772-228154773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188404758	chr1:228154841-228154842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192587411	chr1:228154842-228154843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552741432	chr1:228154875-228154876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552189115	chr1:228154876-228154877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369034827	chr1:228154937-228154938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533629469	chr1:228154981-228154982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574354849	chr1:228154982-228154983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372931262	chr1:228154992-228154993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs849897	chr1:228155008-228155009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553866144	chr1:228155029-228155030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3969435	chr1:228155036-228155037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561643734	chr1:228155113-228155114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200611444	chr1:228155147-228155148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552663257	chr1:228155206-228155207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549856661	chr1:228155222-228155223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576760290	chr1:228155228-228155229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72472996	chr1:228155249-228155250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371098392	chr1:228155294-228155295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184568518	chr1:228155300-228155301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532697167	chr1:228155342-228155343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376651747	chr1:228155384-228155385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376220833	chr1:228155406-228155407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547847461	chr1:228155408-228155409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559521597	chr1:228155481-228155482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530122208	chr1:228155518-228155519	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
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228154000-228154400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:228154200-228154800	Enhancers	Placenta	Placenta
3	chr1:228154800-228159600	Weak transcription	Placenta	Placenta
4	chr1:228156600-228158200	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:228156600-228163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:228156800-228158400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:228158200-228159400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:228158400-228159600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:228159400-228161200	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:228159600-228160200	Enhancers	Placenta	Placenta
11	chr1:228159600-228161200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:228159600-228162000	Enhancers	Fetal Stomach	stomach
13	chr1:228160200-228160600	Weak transcription	Placenta	Placenta
14	chr1:228160600-228161000	Enhancers	Placenta	Placenta
15	chr1:228160600-228161200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:228161200-228161600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:228161600-228162000	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:228163400-228164000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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