Variant report

Variant	nsv946398
Chromosome Location	chr1:153377694-153390350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:366)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:153388334-153388640	GM12878	blood:	n/a	n/a
2	BATF	chr1:153388217-153388602	GM12878	blood:	n/a	n/a
3	BCL11A	chr1:153388294-153388646	GM12878	blood:	n/a	n/a
4	CTCF	chr1:153377692-153377748	ProgFib	skin:	n/a	n/a
5	CTCF	chr1:153377695-153377792	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr1:153377675-153377762	GM19240	blood:	n/a	n/a
7	CTCF	chr1:153377889-153377893	GM12892	blood:	n/a	n/a
8	CTCF	chr1:153377898-153377941	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:153377959-153377996	GM19240	blood:	n/a	n/a
10	CTCF	chr1:153377703-153377785	GM19239	blood:	n/a	n/a
11	CTCF	chr1:153377660-153377800	GM19238	blood:	n/a	n/a
12	CTCF	chr1:153377106-153377725	A549	lung:	n/a	chr1:153377397-153377413 chr1:153377396-153377414
13	CTCF	chr1:153377894-153377995	GM12892	blood:	n/a	n/a
14	CTCF	chr1:153377126-153377711	K562	blood:	n/a	chr1:153377397-153377413 chr1:153377396-153377414
15	CTCF	chr1:153377997-153378006	GM19240	blood:	n/a	n/a
16	CTCF	chr1:153377649-153377752	GM12878	blood:	n/a	n/a
17	CTCF	chr1:153377875-153377881	ProgFib	skin:	n/a	n/a
18	CTCF	chr1:153377901-153377925	Gliobla	brain:	n/a	n/a
19	CTCF	chr1:153377663-153377793	K562	blood:	n/a	n/a
20	CTCF	chr1:153377676-153377779	GM12892	blood:	n/a	n/a
21	CTCF	chr1:153377677-153377784	GM10248	blood:	n/a	n/a
22	CTCF	chr1:153377715-153377771	NHEK	skin:	n/a	n/a
23	CTCF	chr1:153377946-153377978	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr1:153377699-153377739	GM12891	blood:	n/a	n/a
25	EP300	chr1:153388383-153388584	GM12878	blood:	n/a	n/a
26	FOS	chr1:153386533-153386733	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:153386514-153386720	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXA1	chr1:153379756-153380076	HepG2	liver:	n/a	n/a
29	IRF4	chr1:153388202-153388689	GM12878	blood:	n/a	n/a
30	MEF2A	chr1:153388249-153388619	GM12878	blood:	n/a	n/a
31	MEF2A	chr1:153388189-153388662	GM12878	blood:	n/a	n/a
32	MEF2C	chr1:153388274-153388761	GM12878	blood:	n/a	chr1:153388475-153388490
33	MYC	chr1:153387636-153387745	K562	blood:	n/a	n/a
34	NFIC	chr1:153388251-153388672	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:153377741-153377913	A549	lung:	n/a	n/a
36	POLR2A	chr1:153390062-153390114	K562	blood:	n/a	n/a
37	TCF12	chr1:153388374-153388583	GM12878	blood:	n/a	n/a
38	TCF12	chr1:153388352-153388697	GM12878	blood:	n/a	n/a
39	TCF3	chr1:153388360-153388602	GM12878	blood:	n/a	n/a
40	TCF3	chr1:153388430-153388605	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153387689-153387739	AG10803	skin:	n/a
2	chr1:153387609-153387659	HEEpiC	esophagus:	n/a
3	chr1:153389629-153389679	GM12878	blood:	n/a
4	chr1:153389629-153389679	BE2_C	brain:	n/a
5	chr1:153389957-153390007	HCPEpiC	choroid plexus:	n/a
6	chr1:153387689-153387739	MCF10A-Er-Src	breast:	n/a
7	chr1:153387609-153387659	LNCaP	prostate:	n/a
8	chr1:153387689-153387739	HCT-116	colon:	n/a
9	chr1:153388944-153388994	BE2_C	brain:	n/a
10	chr1:153388944-153388994	PANC-1	pancreas:	n/a
11	chr1:153388944-153388994	SKMC	muscle:	n/a
12	chr1:153388944-153388994	SK-N-SH	brain:	n/a
13	chr1:153389957-153390007	AG09319	gingival:	n/a
14	chr1:153389629-153389679	HEEpiC	esophagus:	n/a
15	chr1:153388944-153388994	AG09309	skin:	n/a
16	chr1:153387707-153387757	HCPEpiC	choroid plexus:	n/a
17	chr1:153387609-153387659	SK-N-SH_RA	brain:	n/a
18	chr1:153387707-153387757	HNPCEpiC	eye:	n/a
19	chr1:153389957-153390007	PrEC	prostate:	n/a
20	chr1:153388944-153388994	HAEpiC	amniotic membrane:	n/a
21	chr1:153389957-153390007	ovcar-3	ovarian:	n/a
22	chr1:153387609-153387659	HEK293	kidney:	embryo
23	chr1:153387689-153387739	Jurkat	blood:	n/a
24	chr1:153389629-153389679	A549	lung:	n/a
25	chr1:153387707-153387757	NT2-D1	testis:	n/a
26	chr1:153387707-153387757	SK-N-SH_RA	brain:	n/a
27	chr1:153387707-153387757	PFSK-1	brain:	n/a
28	chr1:153388944-153388994	Hepatocyte	liver:	n/a
29	chr1:153387707-153387757	SK-N-MC	brain:	n/a
30	chr1:153389629-153389679	MCF10A-Er-Src	breast:	n/a
31	chr1:153387707-153387757	ovcar-3	ovarian:	n/a
32	chr1:153389957-153390007	AG04449	skin:	fetal
33	chr1:153387609-153387659	ECC-1	luminal epithelium:	n/a
34	chr1:153388944-153388994	GM12892	blood:	n/a
35	chr1:153387609-153387659	K562	blood:	n/a
36	chr1:153389957-153390007	K562	blood:	n/a
37	chr1:153387689-153387739	HRCEpiC	kidney:	n/a
38	chr1:153389629-153389679	Caco-2	colon:	n/a
39	chr1:153387707-153387757	T-47D	breast:	n/a
40	chr1:153387707-153387757	HMEC	breast:	n/a
41	chr1:153387689-153387739	BE2_C	brain:	n/a
42	chr1:153389629-153389679	AG09319	gingival:	n/a
43	chr1:153387707-153387757	HCF	heart:	n/a
44	chr1:153389629-153389679	GM12892	blood:	n/a
45	chr1:153387689-153387739	NT2-D1	testis:	n/a
46	chr1:153387707-153387757	IMR90	lung:	fetal
47	chr1:153387609-153387659	BE2_C	brain:	n/a
48	chr1:153389629-153389679	Hepatocyte	liver:	n/a
49	chr1:153388944-153388994	AoSMC	blood vessel:	n/a
50	chr1:153389957-153390007	CMK	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153372484..153374932-chr1:153375624..153379394,3	MCF-7	breast:
2	chr1:153360935..153365093-chr1:153387000..153389664,4	MCF-7	breast:
3	chr1:153327790..153331196-chr1:153389246..153391874,3	MCF-7	breast:
4	chr1:153329201..153331656-chr1:153387382..153389992,2	MCF-7	breast:
5	chr1:153327693..153328456-chr1:153377143..153377827,5	MCF-7	breast:
6	chr1:153211131..153211662-chr1:153377212..153377839,2	K562	blood:
7	chr1:153387905..153390806-chr1:153399321..153401492,2	MCF-7	breast:

No data

Variant related genes	Relation type
S100A7A	TF binding region
S100A7A	CpG island
ENSG00000143546	chromatin interactions
ENSG00000163220	chromatin interactions
ENSG00000203781	chromatin interactions

Extended variants
information (count: 567 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570487222	chr1:153377696-153377697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539142380	chr1:153377698-153377699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373236739	chr1:153377711-153377712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149502748	chr1:153377729-153377730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555879117	chr1:153377747-153377748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112719664	chr1:153377775-153377776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4845347	chr1:153377806-153377807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74115428	chr1:153377826-153377827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541649828	chr1:153377829-153377830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74115429	chr1:153377833-153377834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532375620	chr1:153377840-153377841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552397176	chr1:153377843-153377844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565832408	chr1:153377847-153377848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370297167	chr1:153377860-153377861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534723306	chr1:153377891-153377892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374638038	chr1:153377900-153377901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554678274	chr1:153377901-153377902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568076301	chr1:153377928-153377929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536628776	chr1:153377931-153377932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556858535	chr1:153377935-153377936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576663531	chr1:153377975-153377976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545252698	chr1:153378026-153378027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12023124	chr1:153378042-153378043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558733849	chr1:153378070-153378071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113490509	chr1:153378077-153378078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541147059	chr1:153378085-153378086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561202000	chr1:153378097-153378098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530140659	chr1:153378100-153378101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371202304	chr1:153378143-153378144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563647172	chr1:153378184-153378185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11205290	chr1:153378192-153378193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532450666	chr1:153378193-153378194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71287559	chr1:153378215-153378216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2860566	chr1:153378243-153378244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528129216	chr1:153378258-153378259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71257141	chr1:153378261-153378262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11205291	chr1:153378302-153378303	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs11205292	chr1:153378311-153378312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548300634	chr1:153378317-153378318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12059778	chr1:153378322-153378323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537098761	chr1:153378352-153378353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61803114	chr1:153378383-153378384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550312143	chr1:153378406-153378407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570389417	chr1:153378415-153378416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538960231	chr1:153378443-153378444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558795231	chr1:153378459-153378460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572331336	chr1:153378480-153378481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367791604	chr1:153378503-153378504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534871674	chr1:153378552-153378553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555085082	chr1:153378571-153378572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153377000-153379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:153377400-153377800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:153377400-153379200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:153377600-153379000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:153377600-153379400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:153377600-153379600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:153377800-153379200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:153377800-153386000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:153379200-153380000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:153379200-153380000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:153379200-153380200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:153379400-153380000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:153379600-153379800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr1:153379600-153380000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:153379600-153380400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr1:153379600-153380400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:153379800-153380200	Enhancers	Esophagus	oesophagus
18	chr1:153386000-153387400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:153387400-153389200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:153388400-153389000	Enhancers	GM12878-XiMat	blood
21	chr1:153389000-153390200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:153390200-153390400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

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