Variant report

Variant	esv3452493
Chromosome Location	chr1:150210095-150211365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:150210220-150210370	GM12867	blood:	n/a	n/a
2	POLR2A	chr1:150209922-150210453	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150210352-150210402	HEEpiC	esophagus:	n/a
2	chr1:150210352-150210402	IMR90	lung:	fetal
3	chr1:150210352-150210402	SAEC	small airway:	n/a
4	chr1:150210352-150210402	GM12891	blood:	n/a
5	chr1:150210352-150210402	AoSMC	blood vessel:	n/a
6	chr1:150210352-150210402	PrEC	prostate:	n/a
7	chr1:150210352-150210402	A549	lung:	n/a
8	chr1:150210352-150210402	NB4	blood:	n/a
9	chr1:150210352-150210402	HRPEpiC	eye:	n/a
10	chr1:150210352-150210402	Jurkat	blood:	n/a
11	chr1:150210352-150210402	RPTEC	kidney:	n/a
12	chr1:150210352-150210402	MCF-7	breast:	n/a
13	chr1:150210352-150210402	ProgFib	skin:	n/a
14	chr1:150210352-150210402	SK-N-MC	brain:	n/a
15	chr1:150210352-150210402	GM06990	blood:	n/a
16	chr1:150210352-150210402	NT2-D1	testis:	n/a
17	chr1:150210352-150210402	HepG2	liver:	n/a
18	chr1:150210352-150210402	AG09309	skin:	n/a
19	chr1:150210352-150210402	AG04449	skin:	fetal
20	chr1:150210352-150210402	H1-hESC	embryonic stem cell:	embryo
21	chr1:150210352-150210402	HUVEC	blood vessel:	n/a
22	chr1:150210352-150210402	SK-N-SH	brain:	n/a
23	chr1:150210352-150210402	T-47D	breast:	n/a
24	chr1:150210352-150210402	NHDF-neo	bronchial:	n/a
25	chr1:150210352-150210402	MCF10A-Er-Src	breast:	n/a
26	chr1:150210352-150210402	Caco-2	colon:	n/a
27	chr1:150210352-150210402	PANC-1	pancreas:	n/a
28	chr1:150210352-150210402	AG09319	gingival:	n/a
29	chr1:150210352-150210402	K562	blood:	n/a
30	chr1:150210352-150210402	HMEC	breast:	n/a
31	chr1:150210352-150210402	ovcar-3	ovarian:	n/a
32	chr1:150210352-150210402	Hela-S3	cervix:	n/a
33	chr1:150210352-150210402	HCT-116	colon:	n/a
34	chr1:150210352-150210402	SK-N-SH_RA	brain:	n/a
35	chr1:150210352-150210402	U87	brain:	n/a
36	chr1:150210352-150210402	Hepatocyte	liver:	n/a
37	chr1:150210352-150210402	HIPEpiC	eye:	n/a
38	chr1:150210352-150210402	HCM	heart:	n/a
39	chr1:150210352-150210402	NHBE	bronchial:	n/a
40	chr1:150210352-150210402	HL-60	blood:	n/a
41	chr1:150210352-150210402	BE2_C	brain:	n/a
42	chr1:150210352-150210402	LNCaP	prostate:	n/a
43	chr1:150210352-150210402	AG10803	skin:	n/a
44	chr1:150210352-150210402	HCF	heart:	n/a
45	chr1:150210352-150210402	GM12878	blood:	n/a
46	chr1:150210352-150210402	HRE	kidney:	n/a
47	chr1:150210352-150210402	HNPCEpiC	eye:	n/a
48	chr1:150210352-150210402	ECC-1	luminal epithelium:	n/a
49	chr1:150210352-150210402	HRCEpiC	kidney:	n/a
50	chr1:150210352-150210402	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
2	chr1:150209914..150212517-chr1:150228634..150232834,3	K562	blood:
3	chr1:150207682..150210552-chr1:150291812..150294121,3	K562	blood:
4	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
5	chr1:149857476..149860799-chr1:150206355..150210783,8	K562	blood:
6	chr1:150207085..150210384-chr1:150292615..150294360,3	K562	blood:
7	chr1:150039411..150040952-chr1:150209636..150212635,2	K562	blood:
8	chr1:150206579..150210456-chr1:150238390..150242863,9	MCF-7	breast:
9	chr1:150205879..150210456-chr1:150251557..150256195,8	MCF-7	breast:
10	chr1:150198495..150205043-chr1:150206226..150211170,11	MCF-7	breast:
11	chr1:150209725..150211414-chr1:150230060..150232543,2	K562	blood:
12	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:

No data

Variant related genes	Relation type
ANP32E	TF binding region
ANP32E	CpG island
ENSG00000118298	chromatin interactions
ENSG00000117362	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000271845	chromatin interactions
ENSG00000136631	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000117360	chromatin interactions
ENSG00000159208	chromatin interactions
ENSG00000118292	chromatin interactions
ENSG00000178096	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368217747	chr1:150210098-150210099	Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs11205347	chr1:150210120-150210121	Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs587605984	chr1:150210122-150210123	Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs587653678	chr1:150210156-150210157	Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs587737438	chr1:150210171-150210172	Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs145900188	chr1:150210216-150210217	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs112768027	chr1:150210249-150210250	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs587738822	chr1:150210257-150210258	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs12057743	chr1:150210306-150210307	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587688129	chr1:150210329-150210330	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs78150327	chr1:150210346-150210347	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs587619582	chr1:150210352-150210353	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs181930284	chr1:150210360-150210361	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs587774632	chr1:150210369-150210370	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs60883600	chr1:150210415-150210416	Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs587715545	chr1:150210425-150210426	Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs587771524	chr1:150210474-150210475	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs587641432	chr1:150210529-150210530	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs6655935	chr1:150210538-150210539	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs150719032	chr1:150210555-150210556	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs587636305	chr1:150210578-150210579	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs587726509	chr1:150210579-150210580	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs374956911	chr1:150210591-150210592	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs587604891	chr1:150210631-150210632	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs55719183	chr1:150210792-150210793	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs190033608	chr1:150210902-150210903	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs587714275	chr1:150210916-150210917	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs587610971	chr1:150210918-150210919	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs113204265	chr1:150210957-150210958	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs587743495	chr1:150210975-150210976	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs369008837	chr1:150210983-150210984	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs143074643	chr1:150210986-150210987	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs146116790	chr1:150210992-150210993	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs587635788	chr1:150210994-150210995	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs112573499	chr1:150211033-150211034	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs587770968	chr1:150211087-150211088	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs202024423	chr1:150211103-150211104	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs148744989	chr1:150211104-150211105	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs10157434	chr1:150211153-150211154	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185838579	chr1:150211173-150211174	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs191256108	chr1:150211182-150211183	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587761301	chr1:150211250-150211251	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs143689123	chr1:150211304-150211305	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587724586	chr1:150211324-150211325	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	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
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
Breast cancer	21611746	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	19286668	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150209000-150212000	Weak transcription	Lung	lung
2	chr1:150209200-150215400	Weak transcription	Right Atrium	heart
3	chr1:150209400-150210400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:150209400-150212000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:150209600-150210200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:150209600-150210400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:150209600-150212000	Weak transcription	HepG2	liver
8	chr1:150209600-150212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:150209600-150212400	Weak transcription	GM12878-XiMat	blood
10	chr1:150209800-150210200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:150209800-150210200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:150210000-150214800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:150210200-150210400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:150210400-150210600	Enhancers	Thymus	Thymus

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