Variant report

Variant	nsv874879
Chromosome Location	chr2:113764238-113772596
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:0)
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	chr2:113765610..113767817-chr2:113769200..113772024,4	K562	blood:
2	chr2:113764595..113766525-chr2:113767094..113769506,2	K562	blood:
3	chr2:113765610..113767817-chr2:113769200..113772024,4	K562	blood:
4	chr2:113760067..113761681-chr2:113763632..113765728,2	K562	blood:
5	chr2:113768707..113772207-chr2:113772751..113775961,3	K562	blood:
6	chr2:113756435..113758227-chr2:113770315..113771981,2	K562	blood:
7	chr2:113764595..113766525-chr2:113767094..113769506,2	K562	blood:
8	chr2:113692325..113694742-chr2:113763398..113765744,2	K562	blood:
9	chr2:113772280..113775208-chr2:113776344..113777930,2	K562	blood:

No data

Extended variants
information (count: 296 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:296 , 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	rs28938798	chr2:113764238-113764239	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376921690	chr2:113764240-113764241	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185471926	chr2:113764243-113764244	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560011052	chr2:113764272-113764273	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374840794	chr2:113764274-113764275	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2289934	chr2:113764287-113764288	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188916293	chr2:113764302-113764303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs367814600	chr2:113764303-113764304	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562098275	chr2:113764315-113764316	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs193107742	chr2:113764401-113764402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11901453	chr2:113764404-113764405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28947168	chr2:113764419-113764420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs28947169	chr2:113764553-113764554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571473840	chr2:113764567-113764568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547945019	chr2:113764663-113764664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28947170	chr2:113764675-113764676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28947171	chr2:113764750-113764751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556638622	chr2:113764771-113764772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570053560	chr2:113764783-113764784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538174546	chr2:113764824-113764825	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs386468146	chr2:113764871-113764872	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28947172	chr2:113764878-113764879	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183462261	chr2:113764880-113764881	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533763027	chr2:113764918-113764919	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553890355	chr2:113764935-113764936	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371082132	chr2:113764946-113764947	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188334327	chr2:113764967-113764968	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs3768769	chr2:113764983-113764984	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181155423	chr2:113765036-113765037	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575617522	chr2:113765067-113765068	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545324699	chr2:113765068-113765069	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565462948	chr2:113765111-113765112	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550191812	chr2:113765169-113765170	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527955274	chr2:113765189-113765190	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547684887	chr2:113765244-113765245	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184107859	chr2:113765245-113765246	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530255810	chr2:113765256-113765257	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550281458	chr2:113765268-113765269	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28947174	chr2:113765281-113765282	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570078117	chr2:113765321-113765322	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539055923	chr2:113765326-113765327	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535906906	chr2:113765330-113765331	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370495512	chr2:113765396-113765397	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201117711	chr2:113765397-113765398	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs368238741	chr2:113765403-113765404	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534045613	chr2:113765423-113765424	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371952705	chr2:113765441-113765442	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376568289	chr2:113765442-113765443	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189892143	chr2:113765445-113765446	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181672006	chr2:113765467-113765468	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	17483303	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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	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
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113759200-113765000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:113763200-113764400	Active TSS	Esophagus	oesophagus
3	chr2:113764400-113766800	Weak transcription	Esophagus	oesophagus
4	chr2:113764800-113765600	Active TSS	Gastric	stomach
5	chr2:113765000-113765600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:113765000-113765800	Enhancers	Primary T cells from cord blood	blood
7	chr2:113765200-113765800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:113765400-113765800	Enhancers	Fetal Thymus	thymus
9	chr2:113765600-113773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:113765600-113797400	Weak transcription	Gastric	stomach
11	chr2:113765800-113767200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:113765800-113767200	Weak transcription	Fetal Thymus	thymus
13	chr2:113765800-113773000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:113767000-113768000	Enhancers	Thymus	Thymus
15	chr2:113767200-113767400	Enhancers	Primary T cells from cord blood	blood
16	chr2:113767200-113767400	Enhancers	A549	lung
17	chr2:113767200-113768200	Enhancers	Fetal Thymus	thymus
18	chr2:113767200-113768600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:113767400-113768000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:113767400-113770200	Weak transcription	A549	lung
21	chr2:113767600-113767800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:113767600-113768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113767600-113768200	Enhancers	HMEC	breast
24	chr2:113767600-113770400	Enhancers	K562	blood
25	chr2:113767800-113768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:113767800-113768200	Enhancers	Osteobl	bone
27	chr2:113768000-113768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:113768000-113768800	Enhancers	Primary T cells from cord blood	blood
29	chr2:113768000-113769200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:113768200-113770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:113768200-113770200	Weak transcription	Osteobl	bone
32	chr2:113768200-113770400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:113768200-113773400	Weak transcription	Fetal Thymus	thymus
34	chr2:113768800-113771400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:113769200-113771400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:113770000-113771000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:113770000-113771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:113770200-113770600	Flanking Active TSS	A549	lung
39	chr2:113770200-113770600	Enhancers	Osteobl	bone
40	chr2:113770200-113771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:113770200-113771000	Enhancers	Stomach Mucosa	stomach
42	chr2:113770400-113770800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:113770400-113770800	Flanking Active TSS	K562	blood
44	chr2:113770400-113771200	Enhancers	NHEK	skin
45	chr2:113770600-113771800	Enhancers	A549	lung
46	chr2:113770800-113771200	Active TSS	K562	blood
47	chr2:113771200-113771400	Flanking Active TSS	K562	blood
48	chr2:113771400-113772000	Enhancers	K562	blood
49	chr2:113771400-113773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:113772000-113773200	Weak transcription	K562	blood

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