Variant report

Variant	esv1821566
Chromosome Location	chr1:9842576-9856687
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9686719..9688039-chr1:9844321..9845208,3	K562	blood:
2	chr1:9852615..9854985-chr1:9884936..9886688,2	MCF-7	breast:
3	chr1:9844311..9845253-chr1:9926813..9928252,17	K562	blood:
4	chr1:9852437..9854426-chr1:9882312..9884327,2	MCF-7	breast:
5	chr1:9851033..9853778-chr1:9882451..9884467,4	MCF-7	breast:
6	chr1:9832750..9834507-chr1:9841729..9844026,2	K562	blood:
7	chr1:9687069..9687927-chr1:9844746..9845711,2	MCF-7	breast:
8	chr1:9850230..9850981-chr1:220848009..220848904,2	MCF-7	breast:
9	chr1:9838012..9841968-chr1:9843309..9844971,3	MCF-7	breast:
10	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
11	chr1:9847449..9849226-chr1:9882664..9884165,2	MCF-7	breast:
12	chr1:9849986..9852429-chr1:9882664..9886615,3	MCF-7	breast:
13	chr1:9844090..9846323-chr1:9883653..9885317,2	MCF-7	breast:
14	chr1:9851605..9853089-chr1:9927228..9928149,4	MCF-7	breast:
15	chr1:9844361..9845392-chr1:9927251..9928213,4	MCF-7	breast:
16	chr1:9855972..9858555-chr1:9861978..9863923,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171603	chromatin interactions
ENSG00000271264	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10746492	chr1:9842576-9842577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575958896	chr1:9842603-9842604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536670438	chr1:9842621-9842622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558613985	chr1:9842638-9842639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567178001	chr1:9842640-9842641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577197413	chr1:9842685-9842686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541379652	chr1:9842730-9842731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559588156	chr1:9842785-9842786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181674740	chr1:9842848-9842849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543071393	chr1:9842866-9842867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552454366	chr1:9842893-9842894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186548594	chr1:9842938-9842939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147397106	chr1:9842939-9842940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12034239	chr1:9842966-9842967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564978779	chr1:9843006-9843007	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373782618	chr1:9843020-9843021	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191465949	chr1:9843037-9843038	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566225679	chr1:9843047-9843048	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142304446	chr1:9843064-9843065	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527661817	chr1:9843070-9843071	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181438505	chr1:9843071-9843072	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569629857	chr1:9843087-9843088	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117646257	chr1:9843118-9843119	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113732801	chr1:9843123-9843124	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558579764	chr1:9843161-9843162	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10864438	chr1:9843186-9843187	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371212156	chr1:9843200-9843201	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186552608	chr1:9843230-9843231	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553318293	chr1:9843314-9843315	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114485545	chr1:9843347-9843348	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151274291	chr1:9843363-9843364	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189834310	chr1:9843364-9843365	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576449917	chr1:9843385-9843386	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543556718	chr1:9843405-9843406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564888476	chr1:9843413-9843414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532378647	chr1:9843414-9843415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541293049	chr1:9843466-9843467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559818246	chr1:9843478-9843479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530453488	chr1:9843543-9843544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548479722	chr1:9843544-9843545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549781156	chr1:9843549-9843550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530622118	chr1:9843575-9843576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149980406	chr1:9843597-9843598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs570424404	chr1:9843629-9843630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569212953	chr1:9843646-9843647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117521394	chr1:9843651-9843652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552959187	chr1:9843682-9843683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568246675	chr1:9843684-9843685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535779295	chr1:9843689-9843690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567963427	chr1:9843712-9843713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9822200-9844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
6	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:9828200-9844600	Weak transcription	NH-A	brain
8	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:9833200-9844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:9833400-9843000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:9833400-9844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:9833400-9844400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:9833400-9844400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:9833400-9844600	Weak transcription	Primary B cells from cord blood	blood
15	chr1:9833400-9845400	Weak transcription	Colonic Mucosa	Colon
16	chr1:9833400-9845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:9833400-9846400	Weak transcription	Thymus	Thymus
18	chr1:9833400-9846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
25	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
34	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
36	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:9833600-9842600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:9833600-9844400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:9833600-9844400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:9833600-9845000	Weak transcription	HepG2	liver
42	chr1:9833600-9846800	Weak transcription	Left Ventricle	heart
43	chr1:9833600-9847000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:9833600-9851400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:9833600-9851600	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:9833600-9852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:9833600-9852200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:9833600-9852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:9833600-9853400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:9833800-9846400	Weak transcription	Primary T cells fromperipheralblood	blood

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