Variant report

Variant	nsv963162
Chromosome Location	chr2:97225645-97230991
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97224550..97227224-chr2:97230165..97233082,3	MCF-7	breast:
2	chr2:97203065..97204618-chr2:97223395..97226086,2	K562	blood:
3	chr2:97220255..97224562-chr2:97226833..97231498,6	MCF-7	breast:
4	chr2:96874739..96877160-chr2:97224414..97226899,2	K562	blood:
5	chr2:97228964..97231133-chr2:97232072..97233722,2	K562	blood:
6	chr2:97202083..97204917-chr2:97226590..97229416,2	MCF-7	breast:
7	chr2:97224550..97227224-chr2:97230165..97233082,3	MCF-7	breast:
8	chr2:97000041..97002989-chr2:97224309..97226825,2	MCF-7	breast:
9	chr2:97224095..97226307-chr2:97226622..97228675,2	MCF-7	breast:
10	chr2:97224095..97226307-chr2:97226622..97228675,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196843	chromatin interactions
ENSG00000121152	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554771591	chr2:97225715-97225716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141614539	chr2:97225750-97225751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182820217	chr2:97225752-97225753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs13007573	chr2:97225760-97225761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572103826	chr2:97225767-97225768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554421638	chr2:97225784-97225785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs574701180	chr2:97225869-97225870	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs542359651	chr2:97225892-97225893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369606469	chr2:97225948-97225949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186734995	chr2:97226048-97226049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539098934	chr2:97226068-97226069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147170817	chr2:97226096-97226097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569106196	chr2:97226115-97226116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560835601	chr2:97226153-97226154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192771670	chr2:97226169-97226170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560839582	chr2:97226183-97226184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112892201	chr2:97226185-97226186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532490577	chr2:97226196-97226197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs144461774	chr2:97226228-97226229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147402009	chr2:97226235-97226236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs182656083	chr2:97226263-97226264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59118112	chr2:97226310-97226311	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202106946	chr2:97226313-97226314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568485968	chr2:97226370-97226371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13398740	chr2:97226402-97226403	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375453043	chr2:97226414-97226415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201214751	chr2:97226471-97226472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577116474	chr2:97226499-97226500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546039326	chr2:97226518-97226519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556448136	chr2:97226533-97226534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561995368	chr2:97226542-97226543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576195249	chr2:97226578-97226579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542079397	chr2:97226616-97226617	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201872880	chr2:97226647-97226648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561016604	chr2:97226705-97226706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188916257	chr2:97226722-97226723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529785496	chr2:97226819-97226820	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540216129	chr2:97226838-97226839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs573888196	chr2:97226882-97226883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193106933	chr2:97226903-97226904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541213154	chr2:97226931-97226932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185090312	chr2:97226968-97226969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532149376	chr2:97227098-97227099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559333868	chr2:97227166-97227167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78112777	chr2:97227188-97227189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531508452	chr2:97227189-97227190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548116371	chr2:97227214-97227215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55750074	chr2:97227219-97227220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149957728	chr2:97227263-97227264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533166785	chr2:97227302-97227303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97218400-97226600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:97220400-97258000	Weak transcription	Ovary	ovary
3	chr2:97220600-97228400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:97220600-97228600	Weak transcription	Fetal Brain Female	brain
5	chr2:97220600-97232200	Weak transcription	Fetal Heart	heart
6	chr2:97220600-97257000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:97220800-97257400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:97221400-97229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:97221800-97238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:97223000-97234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:97223000-97235000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:97223000-97238600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:97223200-97230800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:97223800-97256000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:97224000-97227000	Weak transcription	HepG2	liver
16	chr2:97224800-97227600	Weak transcription	Thymus	Thymus
17	chr2:97227000-97227800	Enhancers	HepG2	liver
18	chr2:97227200-97230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:97227600-97227800	Enhancers	K562	blood
20	chr2:97228400-97228600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr2:97228800-97255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:97229000-97229200	Weak transcription	Fetal Brain Female	brain
23	chr2:97229800-97231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:97229800-97231400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:97230400-97230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:97230400-97231400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:97230400-97231400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:97230400-97231400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:97230400-97231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:97230600-97231000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:97230600-97231400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:97230800-97231200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:97230800-97231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:97230800-97231400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:97230800-97231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:97230800-97231400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:97230800-97231600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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