Variant report

Variant	nsv159413
Chromosome Location	chr1:226006766-226006944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226005737..226007634-chr1:226011731..226014314,2	MCF-7	breast:
2	chr1:225991700..225994994-chr1:226006068..226008999,3	K562	blood:
3	chr1:225999526..226002981-chr1:226005681..226008708,3	MCF-7	breast:
4	chr1:226004285..226007407-chr1:226008778..226014958,9	K562	blood:
5	chr1:225964451..225968253-chr1:226004384..226007160,4	K562	blood:
6	chr1:225965293..225968073-chr1:226004323..226008130,4	MCF-7	breast:
7	chr1:225965233..225968253-chr1:226004557..226007160,3	K562	blood:

Variant related genes	Relation type
ENSG00000143742	chromatin interactions
ENSG00000143819	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 91 )

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	rs71792528	chr1:226006774-226006775	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71171907	chr1:226006779-226006780	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs57777224	chr1:226006783-226006784	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192583729	chr1:226006785-226006786	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60977635	chr1:226006790-226006791	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12093546	chr1:226006792-226006793	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576604951	chr1:226006796-226006797	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12098135	chr1:226006798-226006799	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs12098136	chr1:226006799-226006800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565039685	chr1:226006804-226006805	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12094562	chr1:226006814-226006815	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12095685	chr1:226006821-226006822	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181895330	chr1:226006822-226006823	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12058160	chr1:226006827-226006828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12068963	chr1:226006865-226006866	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12095698	chr1:226006883-226006884	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12068965	chr1:226006885-226006886	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74325019	chr1:226006915-226006916	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574352117	chr1:226006944-226006945	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Developmental delay	21147756	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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225998400-226007800	Enhancers	Spleen	Spleen
2	chr1:225999400-226007800	Enhancers	Left Ventricle	heart
3	chr1:226000000-226019400	Weak transcription	Fetal Brain Female	brain
4	chr1:226000400-226007400	Enhancers	Brain Anterior Caudate	brain
5	chr1:226000400-226015800	Enhancers	Ovary	ovary
6	chr1:226001800-226006800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:226001800-226010200	Enhancers	HepG2	liver
8	chr1:226001800-226019200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:226003200-226007600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr1:226003800-226008800	Enhancers	Fetal Stomach	stomach
11	chr1:226004000-226007600	Enhancers	Pancreas	Pancrea
12	chr1:226004600-226009400	Enhancers	Fetal Lung	lung
13	chr1:226004800-226007800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:226005200-226006800	Enhancers	Right Atrium	heart
15	chr1:226005200-226008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:226005400-226007200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:226005400-226007800	Enhancers	Adipose Nuclei	Adipose
18	chr1:226005600-226012000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:226005600-226019400	Weak transcription	Brain Germinal Matrix	brain
20	chr1:226005800-226007200	Strong transcription	Fetal Intestine Small	intestine
21	chr1:226005800-226007800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226005800-226008200	Enhancers	Liver	Liver
23	chr1:226005800-226008600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:226005800-226009400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:226005800-226010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226005800-226011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:226005800-226012000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226005800-226012400	Weak transcription	Placenta	Placenta
29	chr1:226005800-226013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:226005800-226013400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:226005800-226019200	Weak transcription	NHLF	lung
32	chr1:226005800-226019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:226005800-226019400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:226006000-226007200	Weak transcription	Fetal Heart	heart
35	chr1:226006000-226008400	Weak transcription	HMEC	breast
36	chr1:226006000-226011200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:226006200-226007200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:226006200-226007200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:226006200-226007200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:226006200-226007600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:226006200-226008200	Weak transcription	K562	blood
42	chr1:226006200-226008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:226006200-226009400	Enhancers	Stomach Mucosa	stomach
44	chr1:226006200-226010400	Genic enhancers	A549	lung
45	chr1:226006200-226011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:226006200-226013200	Weak transcription	HSMMtube	muscle
47	chr1:226006200-226013600	Weak transcription	Small Intestine	intestine
48	chr1:226006200-226016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:226006200-226019400	Weak transcription	HSMM	muscle
50	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial

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