Variant report

Variant	nsv548873
Chromosome Location	chr1:197664905-197694037
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197686066..197687609-chr1:197715987..197718013,2	K562	blood:
2	chr1:197669252..197673459-chr1:197743220..197745341,4	MCF-7	breast:
3	chr1:197672380..197673103-chr9:88627531..88628226,2	MCF-7	breast:
4	chr1:197662721..197665578-chr1:197743679..197745656,2	MCF-7	breast:
5	chr1:197688429..197690737-chr1:197693121..197696010,2	MCF-7	breast:
6	chr1:197665354..197667881-chr1:197692912..197694722,2	K562	blood:
7	chr1:197685915..197688050-chr1:197690516..197693253,2	MCF-7	breast:
8	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:
9	chr1:197653272..197654957-chr1:197663523..197666309,2	K562	blood:
10	chr1:197685915..197688050-chr1:197690516..197693253,2	MCF-7	breast:
11	chr1:197685201..197688463-chr1:197690125..197692928,4	K562	blood:
12	chr1:197690259..197692454-chr1:197742393..197744676,2	MCF-7	breast:
13	chr1:197692208..197693791-chr1:197705575..197708266,2	K562	blood:
14	chr1:197686076..197688310-chr1:197699419..197702157,2	K562	blood:
15	chr1:197674181..197674740-chr12:111020839..111021339,2	MCF-7	breast:
16	chr1:197665354..197667881-chr1:197692912..197694722,2	K562	blood:
17	chr1:197685201..197688463-chr1:197690125..197692928,4	K562	blood:
18	chr1:197650384..197656370-chr1:197660434..197666309,6	K562	blood:
19	chr1:197669335..197671287-chr1:197871295..197873038,2	MCF-7	breast:
20	chr1:197673320..197676128-chr1:197685420..197687485,2	K562	blood:
21	chr1:197686781..197688463-chr1:197690334..197692928,2	K562	blood:
22	chr1:197684119..197686608-chr1:197731962..197734836,2	MCF-7	breast:
23	chr1:197673320..197676128-chr1:197685420..197687485,2	K562	blood:
24	chr1:197688429..197690737-chr1:197693121..197696010,2	MCF-7	breast:
25	chr1:197691912..197694197-chr1:197700256..197701891,2	K562	blood:
26	chr1:197686781..197688463-chr1:197690334..197692928,2	K562	blood:
27	chr1:197683448..197686429-chr1:197686441..197688273,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233040	chromatin interactions
ENSG00000203724	chromatin interactions
ENSG00000213047	chromatin interactions
ENSG00000196850	chromatin interactions
ENSG00000207139	chromatin interactions

Extended variants
information (count: 865 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11810711	chr1:197664905-197664906	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537116239	chr1:197664909-197664910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558714077	chr1:197664930-197664931	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs72744918	chr1:197664936-197664937	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575753938	chr1:197664953-197664954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546338775	chr1:197664966-197664967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541267915	chr1:197664989-197664990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564042440	chr1:197665003-197665004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11803914	chr1:197665078-197665079	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11804259	chr1:197665084-197665085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183332416	chr1:197665085-197665086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561089815	chr1:197665091-197665092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186480550	chr1:197665136-197665137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546646429	chr1:197665171-197665172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145623523	chr1:197665180-197665181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565080989	chr1:197665226-197665227	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532567184	chr1:197665299-197665300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114979698	chr1:197665307-197665308	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566273531	chr1:197665343-197665344	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191284864	chr1:197665436-197665437	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138226902	chr1:197665454-197665455	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111609959	chr1:197665522-197665523	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569528066	chr1:197665559-197665560	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529249971	chr1:197665604-197665605	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182748262	chr1:197665624-197665625	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377729920	chr1:197665696-197665697	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370291586	chr1:197665697-197665698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142824414	chr1:197665729-197665730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550602581	chr1:197665739-197665740	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188219453	chr1:197665746-197665747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146092211	chr1:197665756-197665757	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200087223	chr1:197665772-197665773	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374486389	chr1:197665885-197665886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574589071	chr1:197665886-197665887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541728158	chr1:197665895-197665896	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563625403	chr1:197665897-197665898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576010456	chr1:197665933-197665934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543460860	chr1:197665999-197666000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76794434	chr1:197666023-197666024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533976295	chr1:197666024-197666025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564942765	chr1:197666032-197666033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532431311	chr1:197666033-197666034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541532990	chr1:197666078-197666079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559664005	chr1:197666086-197666087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12131588	chr1:197666111-197666112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375641974	chr1:197666205-197666206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77778722	chr1:197666230-197666231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75674232	chr1:197666232-197666233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548585521	chr1:197666286-197666287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570368920	chr1:197666293-197666294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197653000-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:197653000-197665400	Weak transcription	Osteobl	bone
3	chr1:197657000-197677000	Weak transcription	Ovary	ovary
4	chr1:197658000-197665200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:197658200-197668200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:197658400-197665000	Weak transcription	NHEK	skin
7	chr1:197659400-197665200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:197659400-197665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:197659400-197674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:197659600-197665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197659600-197665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:197659600-197665600	Weak transcription	K562	blood
13	chr1:197659600-197667000	Weak transcription	Primary B cells from cord blood	blood
14	chr1:197659800-197674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:197664400-197665600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:197664400-197666000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:197665000-197666400	Enhancers	NHEK	skin
18	chr1:197665200-197665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:197665200-197665800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:197665200-197666000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:197665200-197666200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:197665200-197666400	Enhancers	HMEC	breast
23	chr1:197665400-197665600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:197665400-197665800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:197665400-197665800	Enhancers	A549	lung
26	chr1:197665400-197666000	Enhancers	Osteobl	bone
27	chr1:197665400-197666200	Enhancers	HUVEC	blood vessel
28	chr1:197665400-197666200	Enhancers	NH-A	brain
29	chr1:197665600-197665800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:197665600-197665800	Enhancers	K562	blood
31	chr1:197665600-197666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:197665600-197666400	Enhancers	Hela-S3	cervix
33	chr1:197665600-197667000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:197665800-197666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:197665800-197675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:197665800-197693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:197666000-197666200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:197666200-197666600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:197666200-197671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:197666600-197666800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:197666800-197675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:197668200-197668400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:197668600-197668800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:197669400-197670200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:197669800-197680400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:197670200-197675600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:197670400-197670800	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr1:197670800-197673400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:197674400-197674600	Enhancers	Fetal Brain Male	brain
50	chr1:197674600-197675600	Weak transcription	Fetal Brain Male	brain

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