Variant report

Variant	nsv947369
Chromosome Location	chr1:197750549-197778118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197777524..197780477-chr1:197781240..197782906,2	K562	blood:
2	chr1:197743450..197746320-chr1:197754020..197756173,2	MCF-7	breast:
3	chr1:197742811..197746253-chr1:197766059..197770491,4	K562	blood:
4	chr1:197751597..197753233-chr1:197754046..197756710,2	MCF-7	breast:
5	chr1:197748060..197749857-chr1:197751111..197752675,2	MCF-7	breast:
6	chr1:197750889..197753652-chr1:197755989..197758239,2	MCF-7	breast:
7	chr1:197751597..197753233-chr1:197754046..197756710,2	MCF-7	breast:
8	chr1:197743492..197747325-chr1:197751420..197754728,3	MCF-7	breast:
9	chr1:197744666..197746774-chr1:197753008..197755981,2	K562	blood:
10	chr1:197747186..197749989-chr1:197754169..197755959,2	MCF-7	breast:
11	chr1:197743241..197744801-chr1:197755993..197757752,2	K562	blood:
12	chr1:197743382..197746114-chr1:197759045..197761455,3	MCF-7	breast:
13	chr1:197743225..197745756-chr1:197745981..197751358,8	MCF-7	breast:
14	chr1:197750889..197753652-chr1:197755989..197758239,2	MCF-7	breast:
15	chr1:197742918..197744605-chr1:197764250..197765768,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213047	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540376742	chr1:197750590-197750591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540397663	chr1:197750603-197750604	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78840028	chr1:197750616-197750617	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529126590	chr1:197750639-197750640	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562125938	chr1:197750739-197750740	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140137706	chr1:197750760-197750761	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563571935	chr1:197750765-197750766	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190559551	chr1:197750775-197750776	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552280180	chr1:197750776-197750777	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182173558	chr1:197750823-197750824	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534903822	chr1:197750835-197750836	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546745222	chr1:197750868-197750869	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149901386	chr1:197750892-197750893	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535814302	chr1:197751061-197751062	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185139314	chr1:197751065-197751066	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529323302	chr1:197751104-197751105	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539414591	chr1:197751176-197751177	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557904342	chr1:197751216-197751217	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572931747	chr1:197751235-197751236	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540428395	chr1:197751291-197751292	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555645187	chr1:197751323-197751324	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371937167	chr1:197751340-197751341	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144960635	chr1:197751383-197751384	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544213396	chr1:197751436-197751437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188290438	chr1:197751452-197751453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2477069	chr1:197751482-197751483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545757967	chr1:197751556-197751557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568207964	chr1:197751614-197751615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536846881	chr1:197751617-197751618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564244147	chr1:197751627-197751628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528609904	chr1:197751637-197751638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74134873	chr1:197751664-197751665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563207280	chr1:197751741-197751742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568597066	chr1:197751746-197751747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181059108	chr1:197751753-197751754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551014399	chr1:197751781-197751782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569502650	chr1:197751789-197751790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539451669	chr1:197751801-197751802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565784603	chr1:197751863-197751864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185664177	chr1:197751868-197751869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566469157	chr1:197751879-197751880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149064309	chr1:197751896-197751897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555424061	chr1:197751950-197751951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74747470	chr1:197751982-197751983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533446560	chr1:197751995-197751996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7545519	chr1:197752036-197752037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34473369	chr1:197752075-197752076	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs118121691	chr1:197752084-197752085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145915210	chr1:197752144-197752145	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77716349	chr1:197752167-197752168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197744600-197751200	Weak transcription	Small Intestine	intestine
2	chr1:197745200-197752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:197745200-197756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:197745400-197751200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:197745400-197752000	Weak transcription	Esophagus	oesophagus
6	chr1:197745600-197751000	Weak transcription	NHLF	lung
7	chr1:197745800-197751000	Weak transcription	Stomach Mucosa	stomach
8	chr1:197745800-197751400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:197746000-197751000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:197746000-197751200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:197746000-197751200	Weak transcription	Hela-S3	cervix
12	chr1:197746200-197750600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:197746200-197750600	Weak transcription	NHEK	skin
14	chr1:197746200-197751000	Weak transcription	NHDF-Ad	bronchial
15	chr1:197746200-197751000	Weak transcription	Osteobl	bone
16	chr1:197746200-197751200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:197746200-197751200	Weak transcription	HMEC	breast
18	chr1:197746400-197751000	Weak transcription	Colonic Mucosa	Colon
19	chr1:197746400-197751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:197746600-197751200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:197747800-197751200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:197748200-197750600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:197748200-197750600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:197748200-197750600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:197748200-197750800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:197748200-197751200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:197748200-197751200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:197748200-197751800	Weak transcription	GM12878-XiMat	blood
29	chr1:197748400-197751200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:197748400-197751600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:197750600-197751000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:197750600-197751200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:197750600-197751400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:197750600-197752800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:197750600-197753200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:197750600-197753600	Enhancers	NHEK	skin
37	chr1:197750800-197752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:197750800-197753600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:197751000-197751400	Enhancers	Colonic Mucosa	Colon
40	chr1:197751000-197751400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:197751000-197751600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:197751000-197751800	Enhancers	K562	blood
43	chr1:197751000-197752400	Enhancers	NHLF	lung
44	chr1:197751000-197752600	Enhancers	Stomach Mucosa	stomach
45	chr1:197751000-197753000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:197751000-197753400	Enhancers	NHDF-Ad	bronchial
47	chr1:197751000-197753400	Enhancers	Osteobl	bone
48	chr1:197751000-197753600	Enhancers	Fetal Intestine Large	intestine
49	chr1:197751200-197751400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:197751200-197751400	Enhancers	Primary hematopoietic stem cells	blood

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