Variant report

Variant	nsv8558
Chromosome Location	chr1:176135063-176141916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176130858..176132751-chr1:176134916..176136520,2	K562	blood:
2	chr1:176139139..176142119-chr6:26031592..26033955,2	K562	blood:
3	chr1:176132100..176134204-chr1:176136004..176138442,2	MCF-7	breast:
4	chr1:176139119..176142139-chr6:26032575..26034849,4	MCF-7	breast:
5	chr1:176141778..176145305-chr1:176175202..176178321,3	K562	blood:

Variant related genes	Relation type
ENSG00000236021	chromatin interactions
ENSG00000143207	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000137259	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:270 , 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	rs150552423	chr1:176135105-176135106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs791753	chr1:176135154-176135155	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192635816	chr1:176135159-176135160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540718138	chr1:176135179-176135180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554471142	chr1:176135245-176135246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553163513	chr1:176135248-176135249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572950367	chr1:176135254-176135255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542147944	chr1:176135261-176135262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566125247	chr1:176135262-176135263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530787448	chr1:176135276-176135277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543826029	chr1:176135281-176135282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189095521	chr1:176135289-176135290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139574206	chr1:176135291-176135292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577477578	chr1:176135304-176135305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546267436	chr1:176135382-176135383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181508483	chr1:176135390-176135391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529452651	chr1:176135483-176135484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202115838	chr1:176135534-176135535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549513340	chr1:176135576-176135577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569450430	chr1:176135582-176135583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539976655	chr1:176135586-176135587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75248386	chr1:176135701-176135702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149732907	chr1:176135706-176135707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184953129	chr1:176135707-176135708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571649608	chr1:176135731-176135732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534339450	chr1:176135734-176135735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374656418	chr1:176135757-176135758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146286437	chr1:176135763-176135764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376365608	chr1:176135768-176135769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12039741	chr1:176135785-176135786	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs71645272	chr1:176135829-176135830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572482145	chr1:176135832-176135833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576618939	chr1:176135833-176135834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189464936	chr1:176135857-176135858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575184630	chr1:176135955-176135956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370737079	chr1:176135959-176135960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12042918	chr1:176135992-176135993	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76252831	chr1:176135993-176135994	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572083630	chr1:176136002-176136003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532762415	chr1:176136029-176136030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539976462	chr1:176136118-176136119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs791752	chr1:176136127-176136128	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528934503	chr1:176136173-176136174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549331150	chr1:176136186-176136187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10798446	chr1:176136193-176136194	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139504354	chr1:176136207-176136208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552103011	chr1:176136216-176136217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571709497	chr1:176136243-176136244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12084102	chr1:176136273-176136274	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547724327	chr1:176136282-176136283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Mental retardation	17847001	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
2	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
3	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
5	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
6	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:176085400-176142400	Weak transcription	Lung	lung
8	chr1:176096000-176138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
10	chr1:176110600-176164000	Weak transcription	NHLF	lung
11	chr1:176111800-176139400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:176116000-176146200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:176122000-176139800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:176123800-176139800	Weak transcription	Fetal Kidney	kidney
15	chr1:176123800-176144200	Weak transcription	Left Ventricle	heart
16	chr1:176123800-176150000	Weak transcription	Osteobl	bone
17	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
18	chr1:176126800-176139800	Weak transcription	HSMMtube	muscle
19	chr1:176127000-176147000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:176127200-176137800	Weak transcription	HSMM	muscle
22	chr1:176127200-176153400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:176127400-176139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:176127400-176139600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:176127400-176140200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:176127400-176141200	Weak transcription	HMEC	breast
27	chr1:176127400-176143200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:176127400-176144200	Weak transcription	A549	lung
29	chr1:176127400-176153400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:176127400-176155400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:176127600-176138200	Weak transcription	Fetal Brain Male	brain
32	chr1:176127600-176138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:176127600-176139200	Weak transcription	Fetal Brain Female	brain
34	chr1:176128000-176139600	Weak transcription	Psoas Muscle	Psoas
35	chr1:176128000-176144200	Weak transcription	Gastric	stomach
36	chr1:176128000-176147000	Weak transcription	Stomach Mucosa	stomach
37	chr1:176128000-176157800	Weak transcription	Spleen	Spleen
38	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
39	chr1:176128200-176135800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:176128200-176136000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:176128200-176136200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:176128200-176138800	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:176128200-176139600	Weak transcription	Fetal Intestine Small	intestine
44	chr1:176128400-176154600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:176128600-176138800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:176128600-176147000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:176128600-176147200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:176128600-176155600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:176128800-176152800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:176128800-176152800	Weak transcription	Placenta Amnion	Placenta Amnion

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