Variant report

Variant	nsv946414
Chromosome Location	chr1:161887945-161889906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161879997..161882988-chr1:161887506..161891115,3	K562	blood:
2	chr1:161881420..161885079-chr1:161887506..161889889,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115371361	chr1:161888028-161888029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527974721	chr1:161888083-161888084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147305784	chr1:161888253-161888254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17416633	chr1:161888269-161888270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533534167	chr1:161888350-161888351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552007688	chr1:161888360-161888361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568950849	chr1:161888361-161888362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537873859	chr1:161888390-161888391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191370942	chr1:161888397-161888398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61809463	chr1:161888439-161888440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532677177	chr1:161888457-161888458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568411497	chr1:161888479-161888480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552617365	chr1:161888517-161888518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140875459	chr1:161888569-161888570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553994241	chr1:161888609-161888610	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576983626	chr1:161888664-161888665	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116228974	chr1:161888750-161888751	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142755308	chr1:161888802-161888803	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184319840	chr1:161888818-161888819	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541865576	chr1:161888852-161888853	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561747532	chr1:161888853-161888854	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572065941	chr1:161888865-161888866	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541374579	chr1:161888891-161888892	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371059508	chr1:161888909-161888910	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188665401	chr1:161888931-161888932	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536892036	chr1:161888937-161888938	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4417044	chr1:161888955-161888956	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs181118411	chr1:161889126-161889127	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550331366	chr1:161889137-161889138	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187028283	chr1:161889179-161889180	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531431471	chr1:161889185-161889186	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144514614	chr1:161889220-161889221	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148427979	chr1:161889282-161889283	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533748116	chr1:161889326-161889327	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142524493	chr1:161889349-161889350	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570705849	chr1:161889364-161889365	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539291393	chr1:161889394-161889395	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112861167	chr1:161889472-161889473	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555932310	chr1:161889533-161889534	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575782693	chr1:161889538-161889539	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574503630	chr1:161889581-161889582	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189871509	chr1:161889658-161889659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555403553	chr1:161889688-161889689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139979051	chr1:161889689-161889690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549410772	chr1:161889700-161889701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564659671	chr1:161889721-161889722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143453731	chr1:161889771-161889772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374789366	chr1:161889818-161889819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563876427	chr1:161889821-161889822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535493356	chr1:161889826-161889827	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
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
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
Ewing''s sarcoma	21437220	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
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:161861600-161891400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:161875600-161888400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:161877400-161891400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:161878200-161888200	Weak transcription	Fetal Heart	heart
9	chr1:161880000-161890600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:161880000-161891600	Weak transcription	Fetal Stomach	stomach
11	chr1:161880400-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:161880600-161888000	Weak transcription	Right Ventricle	heart
13	chr1:161880600-161890800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:161880600-161892000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:161880800-161888400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:161880800-161891200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:161880800-161891200	Weak transcription	NHLF	lung
18	chr1:161881000-161890600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:161881600-161898800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:161881600-161912000	Weak transcription	Aorta	Aorta
21	chr1:161881800-161890400	Weak transcription	HSMMtube	muscle
22	chr1:161882200-161888400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:161882200-161889400	Weak transcription	Brain Substantia Nigra	brain
24	chr1:161883000-161898600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:161883200-161888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:161883200-161916000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:161883400-161896200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:161883400-161928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:161884000-161890400	Weak transcription	NHDF-Ad	bronchial
30	chr1:161884200-161890200	Weak transcription	HMEC	breast
31	chr1:161884200-161910800	Weak transcription	HepG2	liver
32	chr1:161884400-161896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:161884600-161927600	Weak transcription	NHEK	skin
34	chr1:161884800-161890400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:161884800-161922600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:161885000-161888400	Weak transcription	Primary T cells from cord blood	blood
37	chr1:161885000-161890800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:161885000-161910600	Weak transcription	Gastric	stomach
39	chr1:161885000-161914400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:161885000-161928000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:161885200-161888000	Weak transcription	Fetal Brain Female	brain
42	chr1:161885200-161888400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:161885200-161888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:161885200-161890400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:161885200-161890400	Weak transcription	NH-A	brain
46	chr1:161885200-161891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:161885200-161891600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:161885200-161891600	Weak transcription	HUVEC	blood vessel
49	chr1:161885200-161903600	Weak transcription	Thymus	Thymus
50	chr1:161885200-161911800	Weak transcription	Left Ventricle	heart

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