Variant report

Variant	esv2762785
Chromosome Location	chr2:114044712-114081784
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:3)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114067489..114069342-chr2:114085282..114087156,2	MCF-7	breast:
2	chr2:114034404..114036046-chr2:114042741..114044743,2	K562	blood:
3	chr2:114035943..114037997-chr2:114049469..114051321,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD4-6	chr2:114051429-114051789	NONHSAT073775
2	lnc-PSD4-6	chr2:114052029-114052431	NONHSAT073775
3	lnc-PSD4-6	chr2:114052029-114052233	NONHSAT073776
4	lnc-PSD4-6	chr2:114051662-114051789	NONHSAT073776
5	lnc-PSD4-6	chr2:114051429-114051789	l_1929_NR_026821
6	lnc-PSD4-6	chr2:114052628-114052956	NONHSAT073775
7	lnc-PSD4-6	chr2:114052029-114052233	l_1929_NR_026821
8	lnc-PSD4-6	chr2:114052336-114052823	NONHSAT073776
9	lnc-PSD4-6	chr2:114052336-114052898	l_1929_NR_026821

No data

Variant related genes	Relation type
ENSG00000125618	chromatin interactions

Extended variants
information (count: 1412 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1412 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11123175	chr2:114044712-114044713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552048289	chr2:114044762-114044763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71416509	chr2:114044769-114044770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571959089	chr2:114044785-114044786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111519117	chr2:114044822-114044823	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369351863	chr2:114044828-114044829	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547034995	chr2:114044878-114044879	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187048454	chr2:114044945-114044946	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144113786	chr2:114045023-114045024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139541183	chr2:114045030-114045031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62160823	chr2:114045034-114045035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67930064	chr2:114045049-114045050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56180948	chr2:114045060-114045061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535934355	chr2:114045105-114045106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555826045	chr2:114045152-114045153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191806937	chr2:114045198-114045199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111897759	chr2:114045216-114045217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183630159	chr2:114045236-114045237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558371240	chr2:114045270-114045271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572205729	chr2:114045277-114045278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541339201	chr2:114045344-114045345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13002606	chr2:114045382-114045383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs188976072	chr2:114045444-114045445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543070431	chr2:114045491-114045492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193136882	chr2:114045515-114045516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377099235	chr2:114045623-114045624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531879945	chr2:114045660-114045661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551962010	chr2:114045661-114045662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11688620	chr2:114045710-114045711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs527953868	chr2:114045722-114045723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6730184	chr2:114045729-114045730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6742992	chr2:114045731-114045732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536224397	chr2:114045742-114045743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6743000	chr2:114045748-114045749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs58686324	chr2:114045751-114045752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112238039	chr2:114045756-114045757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6715451	chr2:114045773-114045774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12617825	chr2:114045808-114045809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115620505	chr2:114045811-114045812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544892879	chr2:114045830-114045831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534549890	chr2:114045890-114045891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561083429	chr2:114045899-114045900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12151693	chr2:114045908-114045909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184985370	chr2:114045912-114045913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543031730	chr2:114045930-114045931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6730542	chr2:114045965-114045966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576555813	chr2:114045986-114045987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368019330	chr2:114045991-114045992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6730563	chr2:114046007-114046008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs150857988	chr2:114046028-114046029	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114040600-114047000	Enhancers	Liver	Liver
2	chr2:114040600-114047800	Weak transcription	Gastric	stomach
3	chr2:114042200-114045400	Weak transcription	Stomach Mucosa	stomach
4	chr2:114042200-114046000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:114042200-114046200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:114042400-114045000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:114042400-114045200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:114042600-114048600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:114043200-114048800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:114043400-114047800	Weak transcription	Lung	lung
11	chr2:114043600-114045400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:114043600-114045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114043600-114046000	Enhancers	HepG2	liver
14	chr2:114043600-114048600	Weak transcription	NHEK	skin
15	chr2:114043800-114044800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:114043800-114044800	Weak transcription	A549	lung
17	chr2:114043800-114045000	Weak transcription	HMEC	breast
18	chr2:114043800-114045600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:114043800-114045800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:114043800-114046000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:114043800-114048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114044200-114046400	Weak transcription	Pancreas	Pancrea
23	chr2:114044600-114049200	Enhancers	Fetal Intestine Small	intestine
24	chr2:114044800-114045000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:114044800-114045200	Enhancers	A549	lung
26	chr2:114044800-114048600	Enhancers	Fetal Intestine Large	intestine
27	chr2:114045000-114046800	Enhancers	HMEC	breast
28	chr2:114045200-114045400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:114045400-114047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:114045400-114047000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:114045400-114049200	Enhancers	Stomach Mucosa	stomach
32	chr2:114045600-114046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:114045800-114046200	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:114046000-114046600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:114046000-114047000	Flanking Active TSS	HepG2	liver
36	chr2:114046200-114046400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr2:114046200-114046600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:114046600-114046800	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:114046600-114046800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:114046600-114046800	Enhancers	Pancreas	Pancrea
41	chr2:114046600-114046800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:114046600-114047200	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:114046600-114048600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:114046800-114047000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:114046800-114048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:114047000-114048200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:114047000-114048200	Enhancers	HepG2	liver
48	chr2:114047200-114047400	Enhancers	Small Intestine	intestine
49	chr2:114047200-114048600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:114047800-114048000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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