Variant report

Variant	esv3423723
Chromosome Location	chr1:246167140-246167476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246151818..246153936-chr1:246165977..246168550,2	K562	blood:
2	chr1:245679036..245679955-chr1:246166083..246167420,5	MCF-7	breast:
3	chr1:246150601..246153116-chr1:246165334..246168333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552189137	chr1:246167162-246167163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529724731	chr1:246167209-246167210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12119134	chr1:246167222-246167223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537736716	chr1:246167242-246167243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12754740	chr1:246167256-246167257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535179603	chr1:246167263-246167264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377702572	chr1:246167282-246167283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs67593796	chr1:246167284-246167285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551686985	chr1:246167340-246167341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571884371	chr1:246167341-246167342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568113771	chr1:246167366-246167367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537758629	chr1:246167377-246167378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369846551	chr1:246167378-246167379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375186910	chr1:246167379-246167380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140256709	chr1:246167402-246167403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12402183	chr1:246167414-246167415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536738797	chr1:246167419-246167420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142222740	chr1:246167439-246167440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs151234279	chr1:246167443-246167444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246161200-246168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:246161200-246171400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:246161200-246171600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:246161400-246167200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:246161400-246167600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:246161400-246170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:246161400-246171400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:246161600-246167600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:246161600-246167800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:246161600-246168000	Weak transcription	HSMMtube	muscle
11	chr1:246163800-246167200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:246163800-246168400	Weak transcription	Fetal Heart	heart
13	chr1:246163800-246175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:246163800-246175800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:246164000-246168600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:246164800-246167600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:246164800-246168000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:246164800-246170200	Weak transcription	Placenta	Placenta
19	chr1:246165000-246167600	Weak transcription	HMEC	breast
20	chr1:246165000-246168400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:246165200-246167600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:246165400-246167200	Weak transcription	HSMM	muscle
23	chr1:246165400-246167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:246165400-246167600	Weak transcription	Osteobl	bone
25	chr1:246165400-246167800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:246165400-246167800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:246165400-246167800	Weak transcription	NHEK	skin
28	chr1:246165400-246168200	Weak transcription	Stomach Mucosa	stomach
29	chr1:246165800-246171400	Weak transcription	Ovary	ovary
30	chr1:246166400-246167200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:246166400-246167600	Weak transcription	NH-A	brain
32	chr1:246166400-246167800	Weak transcription	Fetal Stomach	stomach
33	chr1:246166600-246167600	Weak transcription	NHDF-Ad	bronchial
34	chr1:246166600-246167800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:246166600-246167800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:246166600-246171400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:246166800-246167800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:246167200-246168400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:246167200-246168400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:246167200-246169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:246167200-246169400	Enhancers	HSMM	muscle
42	chr1:246167400-246168000	Enhancers	Fetal Intestine Large	intestine

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