Variant report

Variant	nsv945311
Chromosome Location	chr1:224043754-224046221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:224045818-224046574	K562	blood:	n/a	n/a
2	POLR2A	chr1:224045087-224045517	K562	blood:	n/a	n/a
3	ZNF143	chr1:224044503-224044519	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr1:224045994-224046433	HEK293-T-REx	kidney:	n/a	chr1:224046246-224046255
5	ZNF263	chr1:224044174-224044520	HEK293-T-REx	kidney:	n/a	chr1:224044362-224044383

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224044718-224044768	HCF	heart:	n/a
2	chr1:224044718-224044768	SK-N-SH	brain:	n/a
3	chr1:224044718-224044768	HL-60	blood:	n/a
4	chr1:224044718-224044768	HEEpiC	esophagus:	n/a
5	chr1:224044382-224044432	Caco-2	colon:	n/a
6	chr1:224044382-224044432	AG04450	lung:	fetal
7	chr1:224044382-224044432	SK-N-SH_RA	brain:	n/a
8	chr1:224044382-224044432	HCPEpiC	choroid plexus:	n/a
9	chr1:224044382-224044432	GM12891	blood:	n/a
10	chr1:224044382-224044432	HRE	kidney:	n/a
11	chr1:224044718-224044768	HUVEC	blood vessel:	n/a
12	chr1:224044718-224044768	NB4	blood:	n/a
13	chr1:224044382-224044432	Hepatocyte	liver:	n/a
14	chr1:224044718-224044768	GM12878	blood:	n/a
15	chr1:224044382-224044432	NH-A	brain:	n/a
16	chr1:224044382-224044432	HAEpiC	amniotic membrane:	n/a
17	chr1:224044382-224044432	BE2_C	brain:	n/a
18	chr1:224044382-224044432	HRCEpiC	kidney:	n/a
19	chr1:224044718-224044768	HMEC	breast:	n/a
20	chr1:224044718-224044768	AG09309	skin:	n/a
21	chr1:224044382-224044432	SKMC	muscle:	n/a
22	chr1:224044718-224044768	AG10803	skin:	n/a
23	chr1:224044718-224044768	BE2_C	brain:	n/a
24	chr1:224044718-224044768	T-47D	breast:	n/a
25	chr1:224044382-224044432	T-47D	breast:	n/a
26	chr1:224044718-224044768	NHDF-neo	bronchial:	n/a
27	chr1:224044382-224044432	ProgFib	skin:	n/a
28	chr1:224044382-224044432	Jurkat	blood:	n/a
29	chr1:224044718-224044768	LNCaP	prostate:	n/a
30	chr1:224044718-224044768	GM06990	blood:	n/a
31	chr1:224044382-224044432	U87	brain:	n/a
32	chr1:224044718-224044768	HRPEpiC	eye:	n/a
33	chr1:224044382-224044432	A549	lung:	n/a
34	chr1:224044382-224044432	HCT-116	colon:	n/a
35	chr1:224044718-224044768	GM12892	blood:	n/a
36	chr1:224044382-224044432	HIPEpiC	eye:	n/a
37	chr1:224044382-224044432	BJ	skin:	n/a
38	chr1:224044718-224044768	HPAEpiC	pulmonary alveolar:	n/a
39	chr1:224044718-224044768	HepG2	liver:	n/a
40	chr1:224044718-224044768	HAEpiC	amniotic membrane:	n/a
41	chr1:224044382-224044432	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:224044382-224044432	NT2-D1	testis:	n/a
43	chr1:224044382-224044432	HCF	heart:	n/a
44	chr1:224044718-224044768	RPTEC	kidney:	n/a
45	chr1:224044382-224044432	AG10803	skin:	n/a
46	chr1:224044382-224044432	GM19239	blood:	n/a
47	chr1:224044382-224044432	ECC-1	luminal epithelium:	n/a
48	chr1:224044718-224044768	SAEC	small airway:	n/a
49	chr1:224044718-224044768	Caco-2	colon:	n/a
50	chr1:224044718-224044768	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:224042155..224044743-chr1:224047523..224049219,2	MCF-7	breast:
2	chr1:224031495..224036851-chr1:224037356..224045519,10	MCF-7	breast:
3	chr1:224030773..224035996-chr1:224045738..224052159,10	MCF-7	breast:
4	chr1:224032237..224035602-chr1:224046110..224051630,7	MCF-7	breast:

No data

Variant related genes	Relation type
PHBP11	TF binding region
PHBP11	CpG island
ENSG00000143514	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547270529	chr1:224043787-224043788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35634773	chr1:224043820-224043821	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35794824	chr1:224043821-224043822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181964689	chr1:224043838-224043839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184642150	chr1:224043843-224043844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35099470	chr1:224043906-224043907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554355705	chr1:224043945-224043946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117842521	chr1:224043974-224043975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12046297	chr1:224043982-224043983	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367611033	chr1:224044026-224044027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532278350	chr1:224044033-224044034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190246263	chr1:224044037-224044038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541047833	chr1:224044103-224044104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4653676	chr1:224044110-224044111	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180987246	chr1:224044140-224044141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542401414	chr1:224044153-224044154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs55704999	chr1:224044231-224044232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565500934	chr1:224044236-224044237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34441353	chr1:224044237-224044238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563894510	chr1:224044247-224044248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12730520	chr1:224044284-224044285	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs56036529	chr1:224044340-224044341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185766997	chr1:224044357-224044358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564633931	chr1:224044359-224044360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528475488	chr1:224044392-224044393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372348088	chr1:224044394-224044395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376432308	chr1:224044414-224044415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546631723	chr1:224044466-224044467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114238307	chr1:224044532-224044533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540760340	chr1:224044541-224044542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147072890	chr1:224044545-224044546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547950816	chr1:224044559-224044560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191459477	chr1:224044589-224044590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537283426	chr1:224044622-224044623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56060508	chr1:224044667-224044668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551962728	chr1:224044669-224044670	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181248640	chr1:224044688-224044689	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186281392	chr1:224044693-224044694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368313538	chr1:224044717-224044718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553013744	chr1:224044718-224044719	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575139576	chr1:224044722-224044723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138293436	chr1:224044740-224044741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559547194	chr1:224044750-224044751	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575729171	chr1:224044850-224044851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371773946	chr1:224044869-224044870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190556674	chr1:224044875-224044876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536825092	chr1:224044887-224044888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556824213	chr1:224044907-224044908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143865874	chr1:224044933-224044934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111479429	chr1:224044968-224044969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute lymphoblastic leukemia	21098271	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224041800-224047000	Weak transcription	NHEK	skin
2	chr1:224041800-224047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:224044200-224044600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:224044600-224044800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:224044600-224044800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224044800-224047800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:224044800-224051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:224045800-224046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:224046000-224046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:224046000-224048600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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