Variant report

Variant	nsv947253
Chromosome Location	chr1:46193322-46206971
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46192510..46194017-chr1:46223382..46224964,2	K562	blood:
2	chr1:46195320..46197615-chr1:46201920..46204124,2	K562	blood:
3	chr1:46205056..46207892-chr1:46214657..46217375,3	MCF-7	breast:
4	chr1:46201467..46205050-chr1:46211028..46217340,6	K562	blood:
5	chr1:46202156..46204427-chr1:46206183..46208440,2	K562	blood:
6	chr1:46205176..46207911-chr1:46209798..46211583,2	K562	blood:
7	chr1:46203892..46206749-chr1:46225405..46227544,2	K562	blood:
8	chr1:46195320..46197615-chr1:46201920..46204124,2	K562	blood:
9	chr1:46202156..46204427-chr1:46206183..46208440,2	K562	blood:
10	chr1:46194844..46197684-chr1:46203861..46206233,2	K562	blood:
11	chr1:46179686..46183187-chr1:46194046..46197153,3	MCF-7	breast:
12	chr1:46205421..46208484-chr1:46212688..46215517,5	K562	blood:
13	chr1:46151328..46153921-chr1:46205484..46208210,2	K562	blood:
14	chr1:46205176..46209135-chr1:46209626..46211583,3	K562	blood:
15	chr1:46153729..46156199-chr1:46194086..46196450,2	K562	blood:
16	chr1:46194844..46197684-chr1:46203861..46206233,2	K562	blood:
17	chr1:46072512..46075049-chr1:46205211..46207779,2	K562	blood:
18	chr1:46195320..46197856-chr1:46269140..46270815,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086015	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000159592	chromatin interactions

Extended variants
information (count: 500 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374296544	chr1:46193330-46193331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565309544	chr1:46193348-46193349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566505900	chr1:46193376-46193377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55748741	chr1:46193397-46193398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145050909	chr1:46193409-46193410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376684550	chr1:46193458-46193459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569071416	chr1:46193459-46193460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536452536	chr1:46193465-46193466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201902499	chr1:46193506-46193507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372292249	chr1:46193529-46193530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567065239	chr1:46193580-46193581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534540625	chr1:46193589-46193590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141130505	chr1:46193624-46193625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184248161	chr1:46193649-46193650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145624192	chr1:46193661-46193662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557100001	chr1:46193754-46193755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575483972	chr1:46193764-46193765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542859888	chr1:46193768-46193769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371114917	chr1:46193798-46193799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369175482	chr1:46193799-46193800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375183623	chr1:46193840-46193841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565078893	chr1:46193844-46193845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57126223	chr1:46193845-46193846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554784056	chr1:46194055-46194056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573032720	chr1:46194085-46194086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563735255	chr1:46194178-46194179	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189530612	chr1:46194221-46194222	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs547692239	chr1:46194257-46194258	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs565128918	chr1:46194259-46194260	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532382618	chr1:46194338-46194339	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs146540308	chr1:46194423-46194424	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565802242	chr1:46194427-46194428	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181171148	chr1:46194443-46194444	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs114652232	chr1:46194496-46194497	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548475906	chr1:46194558-46194559	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567080489	chr1:46194611-46194612	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs527973922	chr1:46194639-46194640	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs59578034	chr1:46194640-46194641	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs397970096	chr1:46194656-46194657	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs28652705	chr1:46194662-46194663	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs552873516	chr1:46194709-46194710	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs184193843	chr1:46194733-46194734	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs372225811	chr1:46194737-46194738	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs549083323	chr1:46194767-46194768	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs141251925	chr1:46194769-46194770	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs28476492	chr1:46194778-46194779	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537087097	chr1:46194815-46194816	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs559745873	chr1:46194816-46194817	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557060770	chr1:46194869-46194870	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs72690811	chr1:46194893-46194894	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	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
Ewing''s sarcoma	21437220	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
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46154600-46206600	Weak transcription	Brain Substantia Nigra	brain
2	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
3	chr1:46155600-46204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:46156800-46203800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:46157400-46209800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:46159800-46194800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:46160800-46215400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:46161000-46196200	Weak transcription	NHEK	skin
10	chr1:46161200-46196000	Weak transcription	GM12878-XiMat	blood
11	chr1:46161200-46206600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:46163600-46196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:46163600-46197400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:46163600-46215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:46165600-46207000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:46174600-46206400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:46174600-46215600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:46174600-46215600	Weak transcription	Esophagus	oesophagus
19	chr1:46175000-46196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:46177800-46215600	Weak transcription	Gastric	stomach
21	chr1:46178000-46195800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:46178000-46195800	Weak transcription	Fetal Kidney	kidney
23	chr1:46178000-46209200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:46178000-46209800	Weak transcription	Fetal Brain Male	brain
25	chr1:46178000-46209800	Weak transcription	Lung	lung
26	chr1:46178000-46215600	Weak transcription	Aorta	Aorta
27	chr1:46179600-46206400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:46179600-46209000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:46180400-46215600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:46180800-46193400	Weak transcription	Dnd41	blood
31	chr1:46181800-46215600	Weak transcription	Fetal Brain Female	brain
32	chr1:46182000-46203200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:46182000-46206600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:46182200-46215600	Weak transcription	Left Ventricle	heart
35	chr1:46182400-46206600	Weak transcription	Primary B cells from cord blood	blood
36	chr1:46182400-46206600	Weak transcription	Adipose Nuclei	Adipose
37	chr1:46182600-46195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:46182800-46195000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:46184400-46201200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:46184400-46203200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:46185000-46206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:46187200-46206800	Weak transcription	Fetal Lung	lung
43	chr1:46187400-46203800	Weak transcription	Primary T cells from cord blood	blood
44	chr1:46187400-46206600	Weak transcription	HSMM	muscle
45	chr1:46189200-46214800	Weak transcription	NHDF-Ad	bronchial
46	chr1:46189400-46207600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:46189400-46215400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:46190600-46196000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:46191800-46193800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:46191800-46194600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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