Variant report

Variant	nsv825420
Chromosome Location	chr1:173743569-173744435
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	chr1:173740671..173743702-chr1:173793711..173796865,3	K562	blood:
2	chr1:173743782..173745551-chr1:173748719..173750353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120334	chromatin interactions
ENSG00000117593	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201721634	chr1:173743600-173743601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368118196	chr1:173743602-173743603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34806911	chr1:173743610-173743611	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113779680	chr1:173743738-173743739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74126415	chr1:173743745-173743746	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181510920	chr1:173743757-173743758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533017957	chr1:173743841-173743842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546868961	chr1:173743844-173743845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201207416	chr1:173743879-173743880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386368775	chr1:173743880-173743881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397722028	chr1:173743883-173743884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566679331	chr1:173743914-173743915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78443701	chr1:173743928-173743929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2180327	chr1:173743934-173743935	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12747748	chr1:173744046-173744047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9425734	chr1:173744063-173744064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12733247	chr1:173744096-173744097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12729090	chr1:173744097-173744098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12033027	chr1:173744134-173744135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559522588	chr1:173744225-173744226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7546048	chr1:173744229-173744230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs139964550	chr1:173744249-173744250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143451756	chr1:173744263-173744264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146726099	chr1:173744265-173744266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61827863	chr1:173744302-173744303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574289110	chr1:173744331-173744332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148297748	chr1:173744336-173744337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186805438	chr1:173744339-173744340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550679253	chr1:173744357-173744358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727200-173744000	Weak transcription	NH-A	brain
4	chr1:173727600-173744600	Weak transcription	HSMM	muscle
5	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
6	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
7	chr1:173727800-173743600	Weak transcription	HepG2	liver
8	chr1:173727800-173744000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:173728000-173744400	Weak transcription	NHLF	lung
10	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:173728600-173743600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
14	chr1:173728800-173743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:173728800-173744000	Weak transcription	Aorta	Aorta
16	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
17	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:173728800-173744200	Weak transcription	HMEC	breast
19	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:173728800-173744600	Weak transcription	Osteobl	bone
22	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
23	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
24	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:173729000-173744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:173729000-173744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:173729000-173744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:173729000-173744000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:173729000-173744000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:173729000-173744000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
37	chr1:173729200-173744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:173729600-173752200	Weak transcription	A549	lung
39	chr1:173729800-173744000	Weak transcription	Psoas Muscle	Psoas
40	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:173730000-173744200	Weak transcription	Fetal Kidney	kidney
42	chr1:173730200-173744000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:173731000-173749000	Weak transcription	GM12878-XiMat	blood
44	chr1:173732800-173744800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:173734000-173744000	Weak transcription	Brain Germinal Matrix	brain
46	chr1:173734000-173744200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:173734000-173744400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:173734200-173744200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:173735800-173744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine

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