Variant report

Variant	esv3384857
Chromosome Location	chr1:223300344-223300888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223299760..223302095-chr1:223310468..223313608,3	K562	blood:
2	chr1:222816004..222818056-chr1:223300181..223302389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187554	chromatin interactions
ENSG00000154305	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562614028	chr1:223300382-223300383	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369566505	chr1:223300394-223300395	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs851190	chr1:223300403-223300404	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs851189	chr1:223300412-223300413	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182530352	chr1:223300427-223300428	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77886197	chr1:223300430-223300431	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530499206	chr1:223300446-223300447	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188388207	chr1:223300459-223300460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34709111	chr1:223300496-223300497	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372006286	chr1:223300506-223300507	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553904044	chr1:223300531-223300532	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34609240	chr1:223300542-223300543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369335521	chr1:223300585-223300586	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546879659	chr1:223300629-223300630	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568726284	chr1:223300638-223300639	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7541995	chr1:223300678-223300679	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536193180	chr1:223300681-223300682	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564670723	chr1:223300703-223300704	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2241097	chr1:223300713-223300714	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539468042	chr1:223300758-223300759	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7534373	chr1:223300801-223300802	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572616058	chr1:223300826-223300827	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs116338706	chr1:223300860-223300861	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573262406	chr1:223300861-223300862	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368991075	chr1:223300869-223300870	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541180498	chr1:223300871-223300872	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
2	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
4	chr1:223283400-223302600	Weak transcription	Gastric	stomach
5	chr1:223289400-223302400	Weak transcription	Spleen	Spleen
6	chr1:223290800-223302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:223293200-223302400	Weak transcription	Placenta	Placenta
8	chr1:223294200-223302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:223297000-223302800	Weak transcription	NH-A	brain
10	chr1:223297200-223300800	Weak transcription	Ovary	ovary
11	chr1:223297200-223301600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:223297200-223301600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:223297200-223302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:223297200-223302400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:223297200-223302400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:223297200-223302400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:223297200-223302400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:223297200-223302400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:223297200-223302400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:223297200-223302400	Weak transcription	Lung	lung
21	chr1:223297200-223302400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:223297200-223302400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:223297200-223302600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:223297200-223302600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:223297200-223302600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:223297200-223302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:223297200-223302600	Weak transcription	Liver	Liver
28	chr1:223297200-223302600	Weak transcription	Colonic Mucosa	Colon
29	chr1:223297200-223302600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:223297200-223302600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:223297200-223302600	Weak transcription	Right Atrium	heart
32	chr1:223297200-223302600	Weak transcription	Stomach Mucosa	stomach
33	chr1:223297200-223302800	Weak transcription	Psoas Muscle	Psoas
34	chr1:223297200-223302800	Weak transcription	HSMM	muscle
35	chr1:223297200-223307000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:223297200-223307000	Weak transcription	Aorta	Aorta
37	chr1:223297400-223302600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:223297600-223306800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:223298800-223300400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:223299400-223302400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:223299800-223302200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:223299800-223302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:223300000-223300600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:223300000-223302400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:223300200-223301000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:223300200-223301000	Enhancers	Brain Anterior Caudate	brain
47	chr1:223300200-223301400	Enhancers	Brain Germinal Matrix	brain
48	chr1:223300200-223302800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:223300400-223300800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:223300400-223301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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