Variant report

Variant	nsv961871
Chromosome Location	chr2:113944654-113945289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113875548..113877377-chr2:113943728..113946005,2	MCF-7	breast:
2	chr2:113943264..113945628-chr2:113949034..113951386,2	K562	blood:
3	chr2:113916801..113918833-chr2:113943214..113944985,2	MCF-7	breast:
4	chr2:113944198..113947066-chr2:113955265..113958109,2	MCF-7	breast:
5	chr2:113943577..113946396-chr2:113947110..113948817,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125637	chromatin interactions
ENSG00000136689	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375162137	chr2:113944699-113944700	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556974521	chr2:113944701-113944702	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs45442597	chr2:113944706-113944707	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576909244	chr2:113944726-113944727	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539948263	chr2:113944727-113944728	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs45492502	chr2:113944739-113944740	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141255962	chr2:113944749-113944750	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35873106	chr2:113944762-113944763	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562373929	chr2:113944765-113944766	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558911709	chr2:113944770-113944771	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2020313	chr2:113944775-113944776	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201230539	chr2:113944792-113944793	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs45527538	chr2:113944808-113944809	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3791335	chr2:113944830-113944831	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs45559344	chr2:113944850-113944851	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375745315	chr2:113944873-113944874	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532866240	chr2:113944874-113944875	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546690000	chr2:113944911-113944912	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200252678	chr2:113944928-113944929	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560047520	chr2:113945069-113945070	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141754436	chr2:113945071-113945072	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs529088795	chr2:113945137-113945138	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548808967	chr2:113945139-113945140	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568798881	chr2:113945185-113945186	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537780185	chr2:113945191-113945192	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs45584931	chr2:113945227-113945228	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570848775	chr2:113945253-113945254	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs17624793	chr2:113945258-113945259	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113923000-113956000	Weak transcription	HMEC	breast
3	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:113938000-113945000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113938800-113945800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:113939200-113945600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:113939400-113945200	Strong transcription	Fetal Stomach	stomach
11	chr2:113939400-113945400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:113939400-113946400	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr2:113939400-113946800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:113939400-113948400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:113939400-113949000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr2:113939400-113956000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:113939400-113956400	Weak transcription	Small Intestine	intestine
18	chr2:113939600-113945600	Strong transcription	K562	blood
19	chr2:113939600-113947800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:113939600-113953800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:113939600-113955400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:113939600-113956200	Weak transcription	Fetal Lung	lung
23	chr2:113939800-113945000	Genic enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:113939800-113945400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:113939800-113946200	Strong transcription	Thymus	Thymus
26	chr2:113940000-113945600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:113940000-113946800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:113940000-113961000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:113940400-113950000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:113940600-113945800	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:113941000-113945200	Genic enhancers	Primary B cells from cord blood	blood
32	chr2:113941000-113950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:113941200-113949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:113941400-113950000	Weak transcription	Esophagus	oesophagus
35	chr2:113941600-113944800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:113941600-113945800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:113941800-113945200	Weak transcription	HepG2	liver
38	chr2:113941800-113949000	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:113941800-113950000	Weak transcription	NHEK	skin
40	chr2:113942000-113948800	Genic enhancers	Primary T cells from cord blood	blood
41	chr2:113942000-113950400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:113942400-113950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:113942600-113945400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:113942800-113945000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:113942800-113956600	Strong transcription	Fetal Thymus	thymus
46	chr2:113942800-113961000	Strong transcription	Dnd41	blood
47	chr2:113943000-113945000	Strong transcription	Fetal Intestine Small	intestine
48	chr2:113943000-113946600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:113943000-113956200	Weak transcription	Brain Substantia Nigra	brain
50	chr2:113943600-113950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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