Variant report

Variant	nsv437299
Chromosome Location	chr2:153157043-153170391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153028161..153030497-chr2:153166137..153168907,2	K562	blood:

Extended variants
information (count: 417 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12693313	chr2:153157043-153157044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538778194	chr2:153157080-153157081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376496283	chr2:153157081-153157082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559037562	chr2:153157129-153157130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76823750	chr2:153157161-153157162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575533148	chr2:153157166-153157167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544635801	chr2:153157170-153157171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75057412	chr2:153157171-153157172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76221745	chr2:153157172-153157173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190577286	chr2:153157192-153157193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57797628	chr2:153157215-153157216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs72860474	chr2:153157233-153157234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376744341	chr2:153157293-153157294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79717660	chr2:153157332-153157333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77964496	chr2:153157347-153157348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377390053	chr2:153157420-153157421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551171009	chr2:153157428-153157429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187883095	chr2:153157454-153157455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56669316	chr2:153157459-153157460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561484758	chr2:153157510-153157511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192538636	chr2:153157512-153157513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567578196	chr2:153157516-153157517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76209730	chr2:153157530-153157531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546761742	chr2:153157547-153157548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566700969	chr2:153157548-153157549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539254903	chr2:153157596-153157597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558772526	chr2:153157628-153157629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182400853	chr2:153157637-153157638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73002861	chr2:153157647-153157648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544059986	chr2:153157654-153157655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140390460	chr2:153157657-153157658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573949004	chr2:153157669-153157670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374486487	chr2:153157778-153157779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75959575	chr2:153157781-153157782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187935661	chr2:153157839-153157840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545232071	chr2:153157869-153157870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564778543	chr2:153157875-153157876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565460840	chr2:153157947-153157948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557682640	chr2:153157975-153157976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77919265	chr2:153158015-153158016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532692002	chr2:153158061-153158062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192425748	chr2:153158075-153158076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547368732	chr2:153158130-153158131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184817010	chr2:153158136-153158137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376200700	chr2:153158167-153158168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150383165	chr2:153158214-153158215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187159519	chr2:153158229-153158230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144993473	chr2:153158333-153158334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11683697	chr2:153158338-153158339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569214269	chr2:153158355-153158356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153155800-153161000	Weak transcription	HMEC	breast
2	chr2:153157600-153158600	Enhancers	Placenta	Placenta
3	chr2:153158600-153160800	Weak transcription	Placenta	Placenta
4	chr2:153159200-153159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:153159400-153161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:153160000-153160200	Enhancers	A549	lung
7	chr2:153160200-153161000	Weak transcription	A549	lung
8	chr2:153160800-153161600	Enhancers	Adipose Nuclei	Adipose
9	chr2:153160800-153161800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:153160800-153161800	Enhancers	Placenta	Placenta
11	chr2:153161000-153161600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:153161000-153161800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:153161000-153161800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:153161000-153161800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:153161000-153161800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:153161000-153161800	Enhancers	A549	lung
17	chr2:153161000-153161800	Enhancers	NHEK	skin
18	chr2:153161000-153162000	Enhancers	HMEC	breast
19	chr2:153161400-153161800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:153161600-153164400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:153161800-153162400	Weak transcription	Placenta	Placenta
22	chr2:153161800-153163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:153161800-153163800	Weak transcription	A549	lung
24	chr2:153161800-153164200	Weak transcription	NHEK	skin
25	chr2:153161800-153164600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:153161800-153164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:153162000-153164400	Weak transcription	HMEC	breast
28	chr2:153162400-153162600	Enhancers	Placenta	Placenta
29	chr2:153163600-153164800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153163800-153165200	Enhancers	A549	lung
31	chr2:153164000-153164600	Enhancers	Brain Germinal Matrix	brain
32	chr2:153164200-153165000	Enhancers	HUVEC	blood vessel
33	chr2:153164200-153165000	Enhancers	NHEK	skin
34	chr2:153164400-153164800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:153164400-153165200	Enhancers	HMEC	breast
36	chr2:153164600-153165200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:153164600-153165200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153164800-153166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:153165200-153165600	Weak transcription	A549	lung
40	chr2:153165600-153165800	Enhancers	A549	lung
41	chr2:153165800-153166800	Flanking Active TSS	A549	lung
42	chr2:153166000-153166600	Enhancers	Pancreas	Pancrea
43	chr2:153166000-153166800	Enhancers	Gastric	stomach
44	chr2:153166000-153166800	Enhancers	Stomach Mucosa	stomach
45	chr2:153166000-153166800	Enhancers	HepG2	liver
46	chr2:153166200-153166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:153166800-153167600	Enhancers	A549	lung

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