Variant report

Variant	esv3443848
Chromosome Location	chr2:114512467-114512812
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114512789..114515409-chr20:55840179..55841852,2	MCF-7	breast:
2	chr2:114512708..114514375-chr2:114682269..114685341,3	MCF-7	breast:
3	chr2:114511724..114513896-chr2:114718190..114720983,2	K562	blood:
4	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
5	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
6	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
7	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
8	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000270019	chromatin interactions
ENSG00000115091	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11897553	chr2:114512478-114512479	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112145295	chr2:114512484-114512485	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35217717	chr2:114512514-114512515	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544115398	chr2:114512578-114512579	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112934966	chr2:114512587-114512588	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564012589	chr2:114512593-114512594	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532375137	chr2:114512608-114512609	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545917088	chr2:114512612-114512613	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547080792	chr2:114512631-114512632	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371124195	chr2:114512637-114512638	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559693820	chr2:114512651-114512652	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528605500	chr2:114512666-114512667	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141329590	chr2:114512667-114512668	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373164471	chr2:114512722-114512723	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181581107	chr2:114512728-114512729	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs531095565	chr2:114512758-114512759	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186083549	chr2:114512762-114512763	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374889313	chr2:114512784-114512785	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 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:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
6	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
10	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
11	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:114504000-114512600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:114504600-114512600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:114505000-114513000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:114505000-114513200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:114506800-114512800	Weak transcription	Colonic Mucosa	Colon
17	chr2:114507000-114512600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:114507000-114512600	Weak transcription	Right Ventricle	heart
19	chr2:114507000-114512800	Weak transcription	Fetal Thymus	thymus
20	chr2:114507000-114513000	Weak transcription	Gastric	stomach
21	chr2:114507000-114513000	Weak transcription	Pancreas	Pancrea
22	chr2:114507000-114513400	Weak transcription	Spleen	Spleen
23	chr2:114507400-114512600	Weak transcription	Psoas Muscle	Psoas
24	chr2:114508600-114512600	Weak transcription	Thymus	Thymus
25	chr2:114508800-114512600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:114508800-114513000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:114508800-114513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:114508800-114513400	Weak transcription	Lung	lung
29	chr2:114509000-114512600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:114509000-114512600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:114509000-114512600	Weak transcription	Ovary	ovary
32	chr2:114509000-114513000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:114509200-114512600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:114509200-114513000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:114509400-114512800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:114509400-114513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:114509400-114513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:114509600-114512600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:114509600-114512600	Weak transcription	Left Ventricle	heart
40	chr2:114510400-114513000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:114510600-114512800	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:114510600-114513000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:114510600-114513000	Weak transcription	Placenta	Placenta
44	chr2:114511200-114512600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:114511200-114515000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:114511600-114512600	Enhancers	Brain Angular Gyrus	brain
47	chr2:114511600-114512600	Weak transcription	Fetal Stomach	stomach
48	chr2:114511600-114515200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:114511800-114512600	Enhancers	Liver	Liver
50	chr2:114511800-114512600	Enhancers	Fetal Lung	lung

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