Variant report

Variant	nsv946511
Chromosome Location	chr1:174979067-174979567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174978883..174980648-chr1:174996369..174998618,2	K562	blood:
2	chr1:174973381..174976191-chr1:174977396..174979705,2	MCF-7	breast:
3	chr1:174968425..174970601-chr1:174977514..174980447,2	MCF-7	breast:
4	chr1:174977530..174979970-chr1:175117504..175119186,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371625311	chr1:174979087-174979088	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561697733	chr1:174979089-174979090	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139194979	chr1:174979142-174979143	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149037309	chr1:174979171-174979172	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374118823	chr1:174979199-174979200	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529899663	chr1:174979206-174979207	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367628097	chr1:174979227-174979228	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1802324	chr1:174979233-174979234	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200341940	chr1:174979236-174979237	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371379935	chr1:174979265-174979266	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563817162	chr1:174979383-174979384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192630577	chr1:174979391-174979392	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552179957	chr1:174979470-174979471	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150725735	chr1:174979505-174979506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10912865	chr1:174979564-174979565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174969800-174981600	Weak transcription	Gastric	stomach
2	chr1:174970000-174982400	Weak transcription	Esophagus	oesophagus
3	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
4	chr1:174970200-174981200	Weak transcription	Right Ventricle	heart
5	chr1:174970600-174981800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:174970800-174980800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:174970800-174986000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:174971000-174991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:174972000-174981000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:174972600-174981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:174973000-174982200	Weak transcription	Fetal Brain Male	brain
12	chr1:174973000-174990600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:174973200-174982000	Weak transcription	Small Intestine	intestine
14	chr1:174973200-174983600	Strong transcription	K562	blood
15	chr1:174973200-174987800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:174973200-174987800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:174973200-174988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:174973600-174987800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:174973600-174988200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:174973600-174990400	Strong transcription	Primary T cells from cord blood	blood
21	chr1:174973800-174980600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr1:174973800-174983800	Strong transcription	NH-A	brain
23	chr1:174973800-174984000	Strong transcription	Hela-S3	cervix
24	chr1:174973800-174984600	Strong transcription	NHDF-Ad	bronchial
25	chr1:174973800-174987600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:174973800-174987800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr1:174973800-174987800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:174973800-174987800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:174973800-174987800	Strong transcription	Fetal Intestine Large	intestine
30	chr1:174973800-174987800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:174973800-174988200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr1:174973800-174988400	Strong transcription	Fetal Thymus	thymus
33	chr1:174973800-174988800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:174973800-174988800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:174973800-174989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:174974000-174987800	Strong transcription	Liver	Liver
37	chr1:174974000-174988200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:174974000-174988400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:174974200-174979800	Strong transcription	Fetal Brain Female	brain
40	chr1:174974200-174980000	Strong transcription	Primary B cells from cord blood	blood
41	chr1:174974200-174980000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr1:174974200-174984000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:174974200-174984400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:174974200-174985200	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:174974200-174987600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:174974200-174987800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:174974200-174987800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:174974200-174987800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:174974200-174987800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:174974200-174987800	Strong transcription	A549	lung

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