Variant report

Variant	nsv947452
Chromosome Location	chr1:175944970-175947820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175943129..175946013-chr1:175947654..175950416,2	K562	blood:
2	chr1:175943129..175946013-chr1:175947654..175950416,2	K562	blood:
3	chr1:175936326..175939176-chr1:175946803..175948734,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPPA2-6	chr1:175945547-175946088	NONHSAT007769

Variant related genes	Relation type
ENSG00000252906	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569969002	chr1:175945040-175945041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9628628	chr1:175945093-175945094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538670566	chr1:175945114-175945115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552254982	chr1:175945116-175945117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9628629	chr1:175945132-175945133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566043637	chr1:175945150-175945151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9628630	chr1:175945163-175945164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190816973	chr1:175945178-175945179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142941928	chr1:175945201-175945202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201035364	chr1:175945209-175945210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371234808	chr1:175945211-175945212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs398053553	chr1:175945219-175945220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555037233	chr1:175945240-175945241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532652841	chr1:175945271-175945272	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9628631	chr1:175945277-175945278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9628632	chr1:175945288-175945289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573888821	chr1:175945301-175945302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536402509	chr1:175945322-175945323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373115144	chr1:175945326-175945327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535774943	chr1:175945330-175945331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377354843	chr1:175945331-175945332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183002732	chr1:175945380-175945381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10913116	chr1:175945390-175945391	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373732728	chr1:175945406-175945407	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10694480	chr1:175945432-175945433	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12750309	chr1:175945434-175945435	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576367295	chr1:175945523-175945524	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542508724	chr1:175945546-175945547	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545270447	chr1:175945565-175945566	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs12407451	chr1:175945596-175945597	Weak transcription Strong transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115675355	chr1:175945603-175945604	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs540811162	chr1:175945645-175945646	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs560449359	chr1:175945681-175945682	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs9970227	chr1:175945686-175945687	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs9970228	chr1:175945687-175945688	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs532687362	chr1:175945710-175945711	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561000084	chr1:175945716-175945717	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188298963	chr1:175945726-175945727	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs546228265	chr1:175945886-175945887	Weak transcription Enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs386636997	chr1:175945945-175945946	Weak transcription Enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs142497295	chr1:175945947-175945948	Weak transcription Enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532694194	chr1:175945950-175945951	Weak transcription Enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs16849475	chr1:175945964-175945965	Weak transcription Enhancers Strong transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192539633	chr1:175946005-175946006	Weak transcription Enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs77012387	chr1:175946027-175946028	Weak transcription Enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs184568731	chr1:175946037-175946038	Weak transcription Enhancers Strong transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370223094	chr1:175946103-175946104	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568536207	chr1:175946132-175946133	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147884614	chr1:175946137-175946138	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs151119113	chr1:175946156-175946157	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
6	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
7	chr1:175903400-175951400	Weak transcription	K562	blood
8	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
9	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
10	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:175906400-175952400	Weak transcription	Spleen	Spleen
12	chr1:175906400-175962600	Weak transcription	NH-A	brain
13	chr1:175906800-175952000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:175907400-175950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:175907800-175945400	Weak transcription	Small Intestine	intestine
16	chr1:175907800-175945600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:175908000-175959400	Weak transcription	NHEK	skin
18	chr1:175909400-175948000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:175911200-175947600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:175911200-175950400	Weak transcription	Fetal Heart	heart
21	chr1:175916400-175952200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:175917600-175953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:175919000-175947800	Weak transcription	Brain Germinal Matrix	brain
24	chr1:175921400-175951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:175922000-175952000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:175924600-175953200	Weak transcription	Gastric	stomach
27	chr1:175924600-175953200	Weak transcription	HepG2	liver
28	chr1:175924800-175947600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:175925000-175951800	Weak transcription	Brain Anterior Caudate	brain
30	chr1:175927000-175951200	Weak transcription	Fetal Brain Male	brain
31	chr1:175930200-175947600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:175930400-175945400	Weak transcription	Aorta	Aorta
33	chr1:175930400-175947000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:175930400-175951800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:175930400-175952200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:175930600-175951400	Weak transcription	Fetal Kidney	kidney
37	chr1:175930800-175947600	Weak transcription	Fetal Stomach	stomach
38	chr1:175930800-175949600	Weak transcription	Ovary	ovary
39	chr1:175934200-175950400	Weak transcription	GM12878-XiMat	blood
40	chr1:175936600-175946600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:175937400-175951400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:175937800-175946400	Weak transcription	NHLF	lung
43	chr1:175938000-175951800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:175938200-175947600	Weak transcription	Brain Substantia Nigra	brain
45	chr1:175938200-175951800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:175938400-175945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:175938400-175950200	Weak transcription	HSMMtube	muscle
48	chr1:175938600-175945200	Weak transcription	Osteobl	bone
49	chr1:175938800-175950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:175938800-175952200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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