Variant report

Variant	esv3486821
Chromosome Location	chr1:226321832-226322157
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226309387..226312243-chr1:226322101..226324468,2	K562	blood:
2	chr1:226248687..226250856-chr1:226319556..226322520,2	MCF-7	breast:
3	chr1:226308628..226313084-chr1:226318396..226322185,6	MCF-7	breast:
4	chr1:226321090..226323803-chr1:226336056..226338005,2	MCF-7	breast:
5	chr1:226321369..226323954-chr1:226327416..226330476,3	K562	blood:
6	chr1:226186376..226188653-chr1:226320391..226323133,2	K562	blood:
7	chr1:226309744..226312243-chr1:226321771..226324398,3	K562	blood:
8	chr1:226319376..226322100-chr1:226332829..226335844,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163041	chromatin interactions
ENSG00000272562	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000234478	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34964634	chr1:226321841-226321842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs568089176	chr1:226321853-226321854	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150338115	chr1:226321862-226321863	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs556577247	chr1:226321888-226321889	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs138032396	chr1:226321921-226321922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs149175152	chr1:226321966-226321967	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376533622	chr1:226321974-226321975	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs67947191	chr1:226321993-226321994	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573009750	chr1:226322014-226322015	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs188972786	chr1:226322037-226322038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs192803132	chr1:226322041-226322042	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs185516058	chr1:226322060-226322061	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs561905489	chr1:226322063-226322064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs574121115	chr1:226322064-226322065	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs530259899	chr1:226322071-226322072	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs542341976	chr1:226322072-226322073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs563678342	chr1:226322100-226322101	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226310400-226333800	Weak transcription	Small Intestine	intestine
2	chr1:226310600-226322400	Weak transcription	Right Atrium	heart
3	chr1:226310800-226331200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226313000-226323200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:226313400-226322000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:226313400-226322600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:226315600-226322600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226316000-226322000	Enhancers	Primary B cells from cord blood	blood
9	chr1:226316000-226324000	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:226316600-226322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:226316800-226323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:226317000-226322200	Weak transcription	Fetal Heart	heart
13	chr1:226317200-226331200	Weak transcription	Placenta	Placenta
14	chr1:226318600-226331600	Weak transcription	NH-A	brain
15	chr1:226319400-226324200	Enhancers	Gastric	stomach
16	chr1:226319600-226331200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:226320000-226322400	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:226320000-226322600	Weak transcription	Right Ventricle	heart
19	chr1:226320000-226324000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:226320000-226324400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:226320400-226322600	Enhancers	Pancreas	Pancrea
22	chr1:226320400-226323200	Enhancers	NHEK	skin
23	chr1:226320600-226322200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:226320600-226323800	Enhancers	Fetal Intestine Large	intestine
25	chr1:226320800-226322000	Flanking Active TSS	Stomach Mucosa	stomach
26	chr1:226320800-226322600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:226320800-226322600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:226320800-226334000	Weak transcription	K562	blood
29	chr1:226321000-226322200	Enhancers	Colonic Mucosa	Colon
30	chr1:226321000-226322200	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:226321000-226322400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:226321000-226322800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:226321000-226322800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:226321000-226323000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:226321000-226331000	Weak transcription	HSMM	muscle
36	chr1:226321200-226322400	Weak transcription	Spleen	Spleen
37	chr1:226321200-226323600	Enhancers	Fetal Intestine Small	intestine
38	chr1:226321200-226323600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:226321200-226331800	Weak transcription	HSMMtube	muscle
40	chr1:226321400-226322000	Bivalent Enhancer	Fetal Stomach	stomach
41	chr1:226321400-226322000	Weak transcription	Lung	lung
42	chr1:226321400-226322400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:226321400-226322400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:226321400-226322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:226321400-226322800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:226321400-226323200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:226321400-226323600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:226321400-226331600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:226321400-226331600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:226321400-226331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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