Variant report

Variant	esv3339383
Chromosome Location	chr1:197091478-197091677
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	chr1:197090849..197092576-chr1:197169357..197171640,2	K562	blood:
2	chr1:197090506..197092545-chr1:197093003..197095180,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177888	chromatin interactions
ENSG00000134376	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202064183	chr1:197091481-197091482	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs41310126	chr1:197091491-197091492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75233924	chr1:197091528-197091529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4915337	chr1:197091537-197091538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376125391	chr1:197091542-197091543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143805893	chr1:197091550-197091551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs199422157	chr1:197091589-197091590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568559471	chr1:197091597-197091598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369377108	chr1:197091600-197091601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201067420	chr1:197091601-197091602	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567065576	chr1:197091604-197091605	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199422156	chr1:197091635-197091636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373180437	chr1:197091636-197091637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
4	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:197071000-197105400	Strong transcription	Dnd41	blood
8	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
16	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:197076400-197096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:197078200-197100400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:197080400-197092600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:197080600-197105400	Strong transcription	Fetal Thymus	thymus
23	chr1:197081200-197103000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:197082000-197094600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:197083600-197098200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:197083600-197108000	Strong transcription	HUVEC	blood vessel
27	chr1:197083800-197095200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:197084000-197099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:197084200-197094200	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:197084200-197098400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:197084200-197098600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:197084400-197102000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:197084400-197106600	Weak transcription	Fetal Stomach	stomach
34	chr1:197084600-197100000	Strong transcription	Hela-S3	cervix
35	chr1:197085000-197091600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:197085000-197095800	Strong transcription	A549	lung
37	chr1:197085400-197092600	Strong transcription	K562	blood
38	chr1:197085800-197091600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:197085800-197099800	Weak transcription	Fetal Heart	heart
40	chr1:197085800-197099800	Weak transcription	Thymus	Thymus
41	chr1:197085800-197109600	Weak transcription	Brain Germinal Matrix	brain
42	chr1:197085800-197111000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:197086800-197091600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:197087600-197098600	Weak transcription	Fetal Lung	lung
45	chr1:197087800-197098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:197088400-197092600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:197089200-197098600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:197089200-197105200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:197089800-197101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:197089800-197105200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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