Variant report

Variant	nsv998231
Chromosome Location	chr1:166174516-166228386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166162627..166165550-chr1:166172239..166174984,2	K562	blood:
2	chr1:165897016..165898019-chr1:166227002..166227900,4	MCF-7	breast:
3	chr1:165896747..165897949-chr1:166226927..166227925,4	MCF-7	breast:

Extended variants
information (count: 336 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10918388	chr1:166174516-166174517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183145810	chr1:166174524-166174525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1451606	chr1:166174572-166174573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs185763135	chr1:166174585-166174586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572915067	chr1:166174622-166174623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190136906	chr1:166174636-166174637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10800202	chr1:166174646-166174647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544171781	chr1:166174661-166174662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563894124	chr1:166174671-166174672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182306616	chr1:166174706-166174707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572184734	chr1:166174731-166174732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543229795	chr1:166174736-166174737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559554813	chr1:166174780-166174781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141017836	chr1:166174816-166174817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551315751	chr1:166174824-166174825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10753713	chr1:166174854-166174855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs186633993	chr1:166174865-166174866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558051611	chr1:166174866-166174867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550633336	chr1:166174879-166174880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567432133	chr1:166174882-166174883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536030173	chr1:166174884-166174885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193140030	chr1:166174886-166174887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566530121	chr1:166174918-166174919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10753714	chr1:166174940-166174941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs141805108	chr1:166174955-166174956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575349439	chr1:166175098-166175099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372325692	chr1:166175129-166175130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4556335	chr1:166175139-166175140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375599884	chr1:166175162-166175163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4378185	chr1:166175222-166175223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184032916	chr1:166175264-166175265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113609220	chr1:166175267-166175268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs736874	chr1:166175280-166175281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188481447	chr1:166175288-166175289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572998915	chr1:166175322-166175323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545138258	chr1:166175334-166175335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562067851	chr1:166175365-166175366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193074683	chr1:166175479-166175480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530840814	chr1:166175495-166175496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61835149	chr1:166175527-166175528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560988550	chr1:166175715-166175716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555441652	chr1:166175755-166175756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145628560	chr1:166175824-166175825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111812316	chr1:166175847-166175848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566717679	chr1:166175863-166175864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78912149	chr1:166175871-166175872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552331863	chr1:166175880-166175881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144265413	chr1:166175925-166175926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537410700	chr1:166175935-166175936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs896404	chr1:166175936-166175937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166172800-166175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:166175600-166177400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:166176200-166177000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:166179600-166180000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:166203000-166203600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:166203200-166203400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:166203200-166203400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:166203200-166203600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:166203200-166203800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:166203200-166203800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:166204400-166204800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:166204400-166204800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:166204400-166205600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:166204800-166207000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:166206800-166207200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:166222000-166223400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:166222400-166224000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:166222600-166223400	Enhancers	Adipose Nuclei	Adipose
19	chr1:166223000-166223400	Enhancers	Psoas Muscle	Psoas

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