Variant report

Variant	nsv433500
Chromosome Location	chr1:169970822-169979101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169978528..169981053-chr1:170500147..170503138,2	MCF-7	breast:
2	chr1:169978632..169980569-chr1:170500860..170502895,2	MCF-7	breast:
3	chr1:169978581..169980784-chr1:169986210..169988699,2	K562	blood:

Variant related genes	Relation type
ENSG00000231407	chromatin interactions
ENSG00000120370	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs629408	chr1:169970822-169970823	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs629421	chr1:169970836-169970837	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570671552	chr1:169970859-169970860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534495635	chr1:169970979-169970980	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553067678	chr1:169971043-169971044	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574465473	chr1:169971046-169971047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541919518	chr1:169971050-169971051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183243880	chr1:169971061-169971062	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575274353	chr1:169971098-169971099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546562629	chr1:169971105-169971106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564623431	chr1:169971266-169971267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139480356	chr1:169971281-169971282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16862913	chr1:169971304-169971305	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562279247	chr1:169971378-169971379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529347279	chr1:169971450-169971451	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76428754	chr1:169971453-169971454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146167073	chr1:169971482-169971483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4656729	chr1:169971492-169971493	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs552079772	chr1:169971538-169971539	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140123178	chr1:169971577-169971578	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143805242	chr1:169971584-169971585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6673712	chr1:169971599-169971600	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs16862917	chr1:169971601-169971602	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34991195	chr1:169971626-169971627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185323670	chr1:169971693-169971694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549579406	chr1:169971738-169971739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568967633	chr1:169971786-169971787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536834	chr1:169971792-169971793	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs575359438	chr1:169971867-169971868	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545795660	chr1:169971931-169971932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190030901	chr1:169971949-169971950	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182265399	chr1:169971992-169971993	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548559539	chr1:169972100-169972101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568402740	chr1:169972122-169972123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188118435	chr1:169972177-169972178	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540872015	chr1:169972200-169972201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534489251	chr1:169972262-169972263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61825320	chr1:169972269-169972270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553129276	chr1:169972275-169972276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573885772	chr1:169972276-169972277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566987527	chr1:169972330-169972331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571178270	chr1:169972392-169972393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571904057	chr1:169972420-169972421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539999693	chr1:169972474-169972475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558658333	chr1:169972493-169972494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536060235	chr1:169972506-169972507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533187739	chr1:169972537-169972538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551500834	chr1:169972558-169972559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560511719	chr1:169972561-169972562	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556798026	chr1:169972649-169972650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169914800-169984000	Weak transcription	Left Ventricle	heart
3	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:169922000-169984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
8	chr1:169945800-169975000	Weak transcription	GM12878-XiMat	blood
9	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:169951800-169975000	Weak transcription	Dnd41	blood
11	chr1:169951800-169975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:169952000-169983200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169952200-169983000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:169952400-169983000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:169952400-169984600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:169952600-169975400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:169952600-169984800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:169955000-169984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:169955600-169984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:169960800-169975000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:169966600-169984600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:169966800-169984600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:169966800-169984800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:169967200-169971400	Enhancers	NHDF-Ad	bronchial
31	chr1:169967200-169971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
33	chr1:169968600-169982200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:169968600-169984600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:169968800-169999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:169968800-170010800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
38	chr1:169969000-169984600	Weak transcription	Brain Anterior Caudate	brain
39	chr1:169969000-169984800	Weak transcription	Ovary	ovary
40	chr1:169969000-169997400	Weak transcription	Fetal Stomach	stomach
41	chr1:169969000-170012600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:169969200-169975200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:169969200-169982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:169969200-169984400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:169969200-169988800	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:169969400-169975000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:169969400-169976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:169969400-169982800	Weak transcription	Adipose Nuclei	Adipose
49	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
50	chr1:169969800-169982200	Weak transcription	Primary T cells from cord blood	blood

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