Variant report

Variant	nsv945767
Chromosome Location	chr1:10180071-10182719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:10182540-10183349	SK-N-SH	brain:	n/a	chr1:10182866-10182876
2	GATA3	chr1:10182593-10183536	SK-N-SH	brain:	n/a	chr1:10182866-10182876
3	IKZF1	chr1:10182581-10182728	GM12878	blood:	n/a	n/a
4	IRF3	chr1:10182171-10182258	GM12878	blood:	n/a	n/a
5	MAFF	chr1:10181778-10182114	HepG2	liver:	n/a	chr1:10181939-10181957
6	MAFF	chr1:10181778-10182120	K562	blood:	n/a	chr1:10181939-10181957
7	MAFK	chr1:10181774-10182130	IMR90	lung:	n/a	chr1:10181941-10181956
8	MAFK	chr1:10181789-10182104	K562	blood:	n/a	chr1:10181941-10181956
9	MAFK	chr1:10181800-10182118	HepG2	liver:	n/a	chr1:10181941-10181956
10	MAFK	chr1:10182689-10183015	HepG2	liver:	n/a	chr1:10182776-10182790 chr1:10182854-10182870 chr1:10182777-10182788 chr1:10182852-10182872
11	MAFK	chr1:10181772-10182127	HepG2	liver:	n/a	chr1:10181941-10181956
12	MAFK	chr1:10182668-10183283	IMR90	lung:	n/a	chr1:10182776-10182790 chr1:10182854-10182870 chr1:10182777-10182788 chr1:10182852-10182872
13	POLR2A	chr1:10182258-10182306	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:10182043-10182085	ProgFib	skin:	n/a	n/a
15	SPI1	chr1:10182662-10183102	HL-60	blood:	n/a	chr1:10182867-10182880 chr1:10182866-10182879
16	STAT3	chr1:10181799-10181987	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10170425..10172938-chr1:10179610..10181170,2	K562	blood:
2	chr1:10179452..10181072-chr1:10181297..10182864,2	K562	blood:

Variant related genes	Relation type
UBE4B	TF binding region
ENSG00000130939	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533491136	chr1:10180116-10180117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373064775	chr1:10180119-10180120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151302350	chr1:10180147-10180148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560494007	chr1:10180183-10180184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527657678	chr1:10180239-10180240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549654410	chr1:10180291-10180292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200109253	chr1:10180292-10180293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567822797	chr1:10180354-10180355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532022599	chr1:10180423-10180424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550155455	chr1:10180452-10180453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6664155	chr1:10180469-10180470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538383772	chr1:10180486-10180487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12097972	chr1:10180628-10180629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114399015	chr1:10180630-10180631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116411164	chr1:10180649-10180650	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535828420	chr1:10180768-10180769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187999050	chr1:10180794-10180795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113085516	chr1:10180812-10180813	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113727112	chr1:10180844-10180845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554538078	chr1:10180853-10180854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191019319	chr1:10180889-10180890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11585670	chr1:10180908-10180909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377501335	chr1:10180933-10180934	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551779303	chr1:10180969-10180970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35632014	chr1:10181038-10181039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577077323	chr1:10181055-10181056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545539754	chr1:10181141-10181142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560524463	chr1:10181173-10181174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530003081	chr1:10181186-10181187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116508686	chr1:10181212-10181213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542697577	chr1:10181220-10181221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561332738	chr1:10181266-10181267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199579279	chr1:10181280-10181281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531941228	chr1:10181287-10181288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200822867	chr1:10181306-10181307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146820927	chr1:10181337-10181338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549109496	chr1:10181344-10181345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375242900	chr1:10181361-10181362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565154754	chr1:10181391-10181392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569651529	chr1:10181399-10181400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183175410	chr1:10181408-10181409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201131968	chr1:10181433-10181434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528165724	chr1:10181436-10181437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75685541	chr1:10181441-10181442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536340744	chr1:10181460-10181461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187382225	chr1:10181496-10181497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111738540	chr1:10181499-10181500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192919145	chr1:10181555-10181556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558863036	chr1:10181591-10181592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567334850	chr1:10181607-10181608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:10166600-10181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:10167000-10181800	Weak transcription	A549	lung
8	chr1:10167400-10181600	Weak transcription	Fetal Brain Male	brain
9	chr1:10167400-10188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:10167400-10192600	Weak transcription	Small Intestine	intestine
11	chr1:10167600-10181600	Weak transcription	Right Ventricle	heart
12	chr1:10167600-10190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10167800-10184000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:10169000-10182400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:10169200-10181600	Weak transcription	HMEC	breast
17	chr1:10169400-10180400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:10169400-10195000	Weak transcription	Aorta	Aorta
19	chr1:10169600-10181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:10169600-10181800	Weak transcription	Hela-S3	cervix
21	chr1:10169800-10181800	Weak transcription	Fetal Heart	heart
22	chr1:10170200-10187000	Weak transcription	HUVEC	blood vessel
23	chr1:10170600-10180200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:10171000-10180200	Strong transcription	Adipose Nuclei	Adipose
25	chr1:10172000-10188200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:10172800-10180200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:10172800-10180400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:10172800-10182400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:10172800-10182600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:10172800-10183400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:10173000-10182600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:10173000-10185200	Strong transcription	Fetal Intestine Large	intestine
33	chr1:10173000-10199400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:10173200-10183200	Strong transcription	Placenta	Placenta
35	chr1:10173200-10185600	Strong transcription	Liver	Liver
36	chr1:10173800-10181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:10174400-10182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:10174800-10180200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:10174800-10182800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:10174800-10183800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:10175000-10184200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:10175000-10207200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:10175400-10183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:10175600-10180200	Strong transcription	Dnd41	blood
45	chr1:10175600-10182400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:10175600-10183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:10175600-10183400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:10175600-10184400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:10175800-10181600	Weak transcription	Spleen	Spleen
50	chr1:10175800-10182800	Strong transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links