Variant report

Variant	nsv933254
Chromosome Location	chr2:48030506-48032323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48016706..48019633-chr2:48029423..48031526,2	K562	blood:
2	chr2:48028902..48031846-chr2:48031868..48034895,3	K562	blood:
3	chr2:48028902..48031846-chr2:48031868..48034895,3	K562	blood:
4	chr2:48009689..48012474-chr2:48029068..48031018,2	K562	blood:
5	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
6	chr2:48029284..48031152-chr2:48035129..48037209,2	MCF-7	breast:
7	chr2:48010815..48013350-chr2:48031787..48034126,2	K562	blood:

Variant related genes	Relation type
ENSG00000138081	chromatin interactions
ENSG00000116062	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs374524212	chr2:48030520-48030521	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368942596	chr2:48030521-48030522	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186475107	chr2:48030524-48030525	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs56408691	chr2:48030525-48030526	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189672273	chr2:48030541-48030542	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551949725	chr2:48030543-48030544	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397515875	chr2:48030558-48030559	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182292083	chr2:48030562-48030563	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs63750196	chr2:48030568-48030569	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369042519	chr2:48030577-48030578	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs267608085	chr2:48030581-48030582	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372103816	chr2:48030583-48030584	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199643502	chr2:48030584-48030585	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs63749821	chr2:48030585-48030586	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs63749843	chr2:48030588-48030589	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs398123230	chr2:48030589-48030590	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs63750784	chr2:48030592-48030593	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs267608074	chr2:48030593-48030594	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534232216	chr2:48030599-48030600	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142254875	chr2:48030603-48030604	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs267608090	chr2:48030607-48030608	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs63750617	chr2:48030612-48030613	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376452612	chr2:48030619-48030620	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186240214	chr2:48030630-48030631	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191109849	chr2:48030631-48030632	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3136351	chr2:48030632-48030633	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371568610	chr2:48030641-48030642	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs63750998	chr2:48030645-48030646	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs63750753	chr2:48030646-48030647	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370226185	chr2:48030647-48030648	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs267608091	chr2:48030649-48030650	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35621414	chr2:48030650-48030651	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34490141	chr2:48030651-48030652	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143477948	chr2:48030654-48030655	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs267608095	chr2:48030659-48030660	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372996269	chr2:48030668-48030669	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376243329	chr2:48030669-48030670	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs63750253	chr2:48030670-48030671	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs63750442	chr2:48030685-48030686	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540252208	chr2:48030686-48030687	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370353868	chr2:48030689-48030690	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs2020910	chr2:48030692-48030693	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs267608092	chr2:48030697-48030698	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs267608093	chr2:48030698-48030699	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs63750377	chr2:48030706-48030707	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs267608088	chr2:48030710-48030711	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374070511	chr2:48030714-48030715	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs41295272	chr2:48030724-48030725	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs35642130	chr2:48030740-48030741	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs267608084	chr2:48030741-48030742	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:48016200-48050400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:48017000-48036200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr2:48017000-48049400	Strong transcription	Fetal Intestine Large	intestine
5	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:48017400-48032200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:48017400-48049600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr2:48017800-48037800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:48018200-48030600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:48019600-48030600	Strong transcription	Liver	Liver
11	chr2:48021200-48036200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:48021200-48036400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:48021200-48051600	Strong transcription	Placenta	Placenta
14	chr2:48021400-48030600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:48021400-48032600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:48021400-48037200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr2:48021400-48067600	Strong transcription	Dnd41	blood
18	chr2:48021600-48030600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:48021600-48030600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:48021600-48030600	Strong transcription	NH-A	brain
21	chr2:48021600-48037400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:48021600-48037800	Strong transcription	HepG2	liver
23	chr2:48021600-48067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:48021800-48035200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:48021800-48037400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:48021800-48039800	Strong transcription	Brain Anterior Caudate	brain
27	chr2:48022000-48036200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr2:48022000-48041400	Strong transcription	HSMM	muscle
29	chr2:48022200-48030600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:48022200-48037600	Strong transcription	Osteobl	bone
31	chr2:48022200-48050200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:48022800-48049200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:48022800-48050000	Strong transcription	HUVEC	blood vessel
34	chr2:48023000-48030600	Strong transcription	NHLF	lung
35	chr2:48023000-48036000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:48023200-48065000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:48023400-48036200	Strong transcription	HSMMtube	muscle
38	chr2:48023600-48033800	Strong transcription	Left Ventricle	heart
39	chr2:48023800-48033200	Strong transcription	Fetal Brain Male	brain
40	chr2:48024200-48038400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:48024400-48038400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr2:48024600-48032200	Strong transcription	Spleen	Spleen
43	chr2:48024600-48033800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:48024600-48035600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr2:48025200-48033600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:48025200-48035600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:48025600-48033000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:48026800-48030600	Strong transcription	Brain Hippocampus Middle	brain
49	chr2:48027000-48031400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr2:48027200-48030600	Weak transcription	Stomach Mucosa	stomach

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