Variant report

Variant	esv1821279
Chromosome Location	chr1:162091495-162106636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:162104217..162104727-chr1:162135376..162135901,2	MCF-7	breast:
2	chr1:162084126..162086362-chr1:162088097..162092257,3	K562	blood:
3	chr1:162104443..162106838-chr1:162122836..162124478,2	MCF-7	breast:
4	chr1:162085605..162088332-chr1:162090625..162092771,2	MCF-7	breast:
5	chr1:162039482..162041875-chr1:162096109..162097688,2	MCF-7	breast:
6	chr1:162104266..162105075-chr1:162129320..162129831,2	MCF-7	breast:
7	chr1:162104266..162105075-chr1:162129283..162129831,3	MCF-7	breast:
8	chr1:162096979..162099613-chr1:162133861..162136914,3	MCF-7	breast:
9	chr1:162100645..162103697-chr1:162104589..162108232,3	K562	blood:
10	chr1:162039484..162041090-chr1:162106434..162108575,2	MCF-7	breast:
11	chr1:162080600..162082628-chr1:162090836..162093684,2	MCF-7	breast:
12	chr1:162100645..162103697-chr1:162104589..162108232,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198929	chromatin interactions

Extended variants
information (count: 508 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10918705	chr1:162091495-162091496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540633267	chr1:162091497-162091498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570162993	chr1:162091516-162091517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560340327	chr1:162091609-162091610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532652410	chr1:162091619-162091620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577406005	chr1:162091644-162091645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114630194	chr1:162091689-162091690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16827674	chr1:162091836-162091837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550454040	chr1:162091877-162091878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567271104	chr1:162091898-162091899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535801102	chr1:162091899-162091900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559947152	chr1:162091959-162091960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147477398	chr1:162091968-162091969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566411291	chr1:162091969-162091970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538704406	chr1:162091995-162091996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558403753	chr1:162091998-162091999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56120039	chr1:162092040-162092041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10458392	chr1:162092110-162092111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs190785030	chr1:162092163-162092164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139919092	chr1:162092203-162092204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374566619	chr1:162092247-162092248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35388532	chr1:162092299-162092300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56938881	chr1:162092315-162092316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540225582	chr1:162092356-162092357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10082218	chr1:162092390-162092391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551828908	chr1:162092442-162092443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571666013	chr1:162092565-162092566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12089395	chr1:162092584-162092585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181196210	chr1:162092586-162092587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530618737	chr1:162092618-162092619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35302436	chr1:162092653-162092654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544006479	chr1:162092693-162092694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557388800	chr1:162092695-162092696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75597174	chr1:162092720-162092721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529029947	chr1:162092812-162092813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529953911	chr1:162092813-162092814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186658978	chr1:162092881-162092882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546926551	chr1:162092901-162092902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566447053	chr1:162092903-162092904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72713886	chr1:162093024-162093025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552245732	chr1:162093060-162093061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535612485	chr1:162093119-162093120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11590763	chr1:162093151-162093152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3908851	chr1:162093168-162093169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568739910	chr1:162093213-162093214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200785054	chr1:162093217-162093218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534487031	chr1:162093257-162093258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554204128	chr1:162093326-162093327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76111323	chr1:162093486-162093487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10458387	chr1:162093507-162093508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162085800-162098600	Weak transcription	HepG2	liver
2	chr1:162087600-162095400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:162089600-162098600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:162089600-162098600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:162089800-162098800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:162090800-162098800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:162091400-162098600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:162096000-162096200	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr1:162096200-162101800	Weak transcription	Psoas Muscle	Psoas
10	chr1:162097600-162106600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:162098400-162098800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:162098400-162099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:162098400-162099200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:162098400-162099200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:162098400-162099200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:162098600-162099000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:162098600-162099000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:162098600-162099200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:162098600-162099200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:162098600-162099200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:162098600-162101400	Enhancers	HepG2	liver
22	chr1:162098800-162099200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:162098800-162099200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:162098800-162107800	Enhancers	Liver	Liver
25	chr1:162098800-162109200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:162099000-162099200	Enhancers	Colon Smooth Muscle	Colon
27	chr1:162099000-162099400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:162099000-162100000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:162099200-162099800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:162099200-162103400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:162099200-162104400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:162099200-162105000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:162099200-162105400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:162099200-162105800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:162099200-162106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:162099200-162106800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:162099400-162104600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:162099800-162102400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:162100000-162100400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:162100000-162109400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:162100200-162100400	Enhancers	Right Atrium	heart
42	chr1:162100200-162102200	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:162100400-162100600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:162100400-162101400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:162100400-162101800	Weak transcription	Right Atrium	heart
46	chr1:162100800-162101800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:162100800-162103200	Enhancers	Fetal Intestine Large	intestine
48	chr1:162100800-162105400	Enhancers	Fetal Intestine Small	intestine
49	chr1:162101200-162101600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:162101200-162101800	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links