Variant report

Variant	esv275040
Chromosome Location	chr2:114725846-114729087
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:114719759..114724600-chr2:114725495..114731130,7	K562	blood:
2	chr2:114719759..114722494-chr2:114725495..114728932,3	K562	blood:
3	chr2:114727758..114729745-chr2:114737971..114739817,2	K562	blood:
4	chr2:114725172..114726759-chr2:114728569..114731437,2	K562	blood:
5	chr2:114727885..114731158-chr2:114732543..114736928,5	K562	blood:
6	chr2:114513167..114514852-chr2:114727452..114729703,2	K562	blood:
7	chr2:114722980..114724600-chr2:114727124..114729506,2	K562	blood:
8	chr2:114725172..114726759-chr2:114728569..114731437,2	K562	blood:
9	chr2:114718968..114721706-chr2:114724890..114726675,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-1	chr2:114728117-114728330	NONHSAT073854
2	lnc-SLC35F5-4	chr2:114727055-114728277	XLOC_002286

No data

Variant related genes	Relation type
ENSG00000115084	chromatin interactions
SLC5A6	miRNA target sites

Extended variants
information (count: 99 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6542186	chr2:114725846-114725847	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549397265	chr2:114725865-114725866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7564988	chr2:114725872-114725873	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552272642	chr2:114725912-114725913	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3912541	chr2:114725960-114725961	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6711054	chr2:114726115-114726116	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs554794856	chr2:114726121-114726122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139061282	chr2:114726157-114726158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537326279	chr2:114726172-114726173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149457111	chr2:114726223-114726224	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116706235	chr2:114726237-114726238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35819926	chr2:114726350-114726351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36051283	chr2:114726359-114726360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545027256	chr2:114726464-114726465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187230181	chr2:114726608-114726609	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10496455	chr2:114726616-114726617	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77742501	chr2:114726632-114726633	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57250836	chr2:114726643-114726644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530363213	chr2:114726769-114726770	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143847338	chr2:114726795-114726796	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563802638	chr2:114726933-114726934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141032773	chr2:114726943-114726944	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190551000	chr2:114726978-114726979	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565809010	chr2:114727026-114727027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534704784	chr2:114727034-114727035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548434054	chr2:114727052-114727053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10208093	chr2:114727091-114727092	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537213718	chr2:114727183-114727184	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs557223582	chr2:114727204-114727205	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs61516254	chr2:114727236-114727237	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1040292	chr2:114727366-114727367	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183930587	chr2:114727392-114727393	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs188881546	chr2:114727393-114727394	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs541114097	chr2:114727428-114727429	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs280383	chr2:114727473-114727474	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs554613052	chr2:114727494-114727495	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs574715659	chr2:114727502-114727503	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs554334347	chr2:114727506-114727507	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs543607069	chr2:114727517-114727518	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs564018505	chr2:114727556-114727557	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs904498	chr2:114727572-114727573	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538496643	chr2:114727578-114727579	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs572846926	chr2:114727600-114727601	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs545830700	chr2:114727632-114727633	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs559064618	chr2:114727637-114727638	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs147936730	chr2:114727654-114727655	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs13034824	chr2:114727700-114727701	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs548326205	chr2:114727724-114727725	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs192659763	chr2:114727790-114727791	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs530734174	chr2:114727808-114727809	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114705200-114731200	Weak transcription	Lung	lung
4	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
5	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
6	chr2:114705200-114736000	Weak transcription	Gastric	stomach
7	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
8	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
9	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
10	chr2:114707400-114726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
12	chr2:114710400-114728000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
14	chr2:114710600-114727400	Weak transcription	Thymus	Thymus
15	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
16	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:114713800-114735200	Weak transcription	Ovary	ovary
22	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
23	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:114714800-114732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:114715200-114728400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:114715600-114732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
30	chr2:114715600-114735400	Weak transcription	K562	blood
31	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:114716800-114729200	Weak transcription	Placenta	Placenta
33	chr2:114717600-114729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:114718600-114726800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:114718600-114729000	Weak transcription	Fetal Thymus	thymus
36	chr2:114718600-114733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:114718600-114735400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:114718800-114728600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:114718800-114729000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:114719200-114727600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:114719200-114728200	Weak transcription	GM12878-XiMat	blood
43	chr2:114719400-114727800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:114719400-114729200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:114719400-114732400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:114719600-114729600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:114719800-114729200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:114720000-114728600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:114721000-114729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:114721200-114729800	Weak transcription	HMEC	breast

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