Variant report

Variant	nsv979103
Chromosome Location	chr2:114072871-114077354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17043296	chr2:114072907-114072908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2863817	chr2:114072913-114072914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2863818	chr2:114072914-114072915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577111420	chr2:114072923-114072924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145677197	chr2:114072938-114072939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545685897	chr2:114072967-114072968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13015340	chr2:114072985-114072986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189808853	chr2:114072989-114072990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116183376	chr2:114073047-114073048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115249160	chr2:114073051-114073052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550970603	chr2:114073085-114073086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62158164	chr2:114073097-114073098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182381257	chr2:114073161-114073162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111334121	chr2:114073201-114073202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532692201	chr2:114073207-114073208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552503098	chr2:114073209-114073210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566326616	chr2:114073319-114073320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202188651	chr2:114073360-114073361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111294526	chr2:114073423-114073424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548925268	chr2:114073429-114073430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568056262	chr2:114073440-114073441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35561652	chr2:114073499-114073500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74665901	chr2:114073503-114073504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537092121	chr2:114073508-114073509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550650643	chr2:114073511-114073512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553919603	chr2:114073553-114073554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539586383	chr2:114073580-114073581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552913392	chr2:114073582-114073583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573022074	chr2:114073611-114073612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187050316	chr2:114073647-114073648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555282272	chr2:114073678-114073679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574488475	chr2:114073681-114073682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190465765	chr2:114073683-114073684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563399758	chr2:114073696-114073697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577280342	chr2:114073710-114073711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546346961	chr2:114073742-114073743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559667162	chr2:114073744-114073745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183629881	chr2:114073810-114073811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548898928	chr2:114073994-114073995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539554819	chr2:114073999-114074000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17043247	chr2:114074011-114074012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550611836	chr2:114074012-114074013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570501252	chr2:114074019-114074020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539138715	chr2:114074035-114074036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558680209	chr2:114074068-114074069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566539832	chr2:114074069-114074070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534086785	chr2:114074076-114074077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535312278	chr2:114074109-114074110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555194318	chr2:114074129-114074130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145676849	chr2:114074131-114074132	Weak transcription Enhancers	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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114066400-114073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114072000-114073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:114072000-114074200	Enhancers	HMEC	breast
5	chr2:114072400-114080800	Weak transcription	NHEK	skin
6	chr2:114072600-114073000	Weak transcription	HSMMtube	muscle
7	chr2:114072600-114073600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:114072800-114073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:114073000-114073400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:114073200-114074200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:114073400-114074200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:114073600-114074200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114073600-114074400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:114074200-114080400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:114074200-114080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:114074200-114081000	Weak transcription	HMEC	breast
17	chr2:114074400-114081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:114075000-114075600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:114075200-114075800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:114077200-114079400	Weak transcription	Esophagus	oesophagus

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