Variant report

Variant	nsv511737
Chromosome Location	chr1:225759933-225763071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225737824..225740391-chr1:225760266..225761953,2	K562	blood:
2	chr1:225762925..225765208-chr1:225770606..225772891,3	K562	blood:
3	chr1:225759930..225762084-chr1:225837914..225840805,3	MCF-7	breast:
4	chr1:225749423..225753817-chr1:225762861..225765930,3	K562	blood:
5	chr1:225759882..225763061-chr1:225838527..225842232,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146717197	chr1:225759938-225759939	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573018443	chr1:225759969-225759970	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10495242	chr1:225760018-225760019	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377317863	chr1:225760029-225760030	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189893833	chr1:225760042-225760043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140349203	chr1:225760077-225760078	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550843819	chr1:225760084-225760085	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6665838	chr1:225760085-225760086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183209092	chr1:225760118-225760119	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187798022	chr1:225760135-225760136	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115491302	chr1:225760138-225760139	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190317553	chr1:225760189-225760190	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528733185	chr1:225760191-225760192	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547281964	chr1:225760214-225760215	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568454822	chr1:225760216-225760217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535650416	chr1:225760233-225760234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557158772	chr1:225760244-225760245	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567923935	chr1:225760316-225760317	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529727675	chr1:225760321-225760322	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79912077	chr1:225760348-225760349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557437676	chr1:225760360-225760361	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572796418	chr1:225760434-225760435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144276201	chr1:225760438-225760439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183760212	chr1:225760443-225760444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574014225	chr1:225760468-225760469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187858014	chr1:225760481-225760482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562689536	chr1:225760505-225760506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146586471	chr1:225760512-225760513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192887357	chr1:225760533-225760534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546281568	chr1:225760625-225760626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564283887	chr1:225760628-225760629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532090511	chr1:225760640-225760641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140934583	chr1:225760717-225760718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546724391	chr1:225760721-225760722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551813020	chr1:225760747-225760748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568391434	chr1:225760754-225760755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529577159	chr1:225760830-225760831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184896818	chr1:225760853-225760854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571675122	chr1:225760915-225760916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs17502497	chr1:225760955-225760956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115566997	chr1:225761063-225761064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566496730	chr1:225761076-225761077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150203870	chr1:225761090-225761091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555438917	chr1:225761116-225761117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138726614	chr1:225761122-225761123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34013472	chr1:225761219-225761220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375208320	chr1:225761236-225761237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76181163	chr1:225761279-225761280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577779302	chr1:225761318-225761319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148995725	chr1:225761320-225761321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225730600-225765800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
3	chr1:225732400-225763000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:225734600-225763600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:225744800-225760200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:225744800-225761400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:225744800-225768200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:225744800-225768600	Weak transcription	Fetal Brain Male	brain
9	chr1:225745000-225760800	Weak transcription	Fetal Kidney	kidney
10	chr1:225745000-225770000	Weak transcription	HUVEC	blood vessel
11	chr1:225745000-225772800	Weak transcription	Fetal Brain Female	brain
12	chr1:225747800-225765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:225748800-225765800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:225750800-225761200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:225754000-225764600	Weak transcription	Fetal Stomach	stomach
18	chr1:225754200-225761000	Weak transcription	Aorta	Aorta
19	chr1:225754200-225764400	Weak transcription	Right Atrium	heart
20	chr1:225754200-225764600	Weak transcription	Ovary	ovary
21	chr1:225754400-225760000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:225754400-225764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:225754400-225769400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:225754600-225761200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:225754600-225764400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:225754600-225766000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:225754800-225760200	Weak transcription	NH-A	brain
28	chr1:225755200-225760200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:225755200-225760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:225755200-225763800	Weak transcription	Left Ventricle	heart
31	chr1:225755200-225766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:225755200-225772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:225755400-225765000	Weak transcription	HSMM	muscle
34	chr1:225756600-225765000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:225756600-225767600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:225756800-225760200	Weak transcription	A549	lung
37	chr1:225756800-225764400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:225756800-225765400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:225757000-225760400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:225757000-225761200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:225757000-225764200	Weak transcription	NHDF-Ad	bronchial
42	chr1:225757000-225764400	Weak transcription	Fetal Heart	heart
43	chr1:225757000-225765000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:225757000-225765000	Weak transcription	NHLF	lung
45	chr1:225757600-225761200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:225757600-225761200	Weak transcription	Fetal Lung	lung
47	chr1:225757800-225760000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:225758200-225764600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:225758200-225765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:225758400-225760000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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