Variant report

Variant	nsv947386
Chromosome Location	chr1:227255580-227258757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227247700..227249846-chr1:227255373..227257295,2	K562	blood:
2	chr1:227249781..227252416-chr1:227257576..227259161,2	K562	blood:
3	chr1:227231949..227233855-chr1:227255369..227258277,2	K562	blood:
4	chr1:227127569..227129155-chr1:227257063..227258978,2	MCF-7	breast:
5	chr1:227256237..227258373-chr1:227281662..227284397,2	K562	blood:
6	chr1:227250275..227252416-chr1:227256127..227259076,3	K562	blood:

Variant related genes	Relation type
ENSG00000163050	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368079764	chr1:227255677-227255678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529724376	chr1:227255702-227255703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145350195	chr1:227255731-227255732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561347602	chr1:227255741-227255742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531901921	chr1:227255749-227255750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542966037	chr1:227255776-227255777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372331056	chr1:227255813-227255814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534365963	chr1:227255859-227255860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193291862	chr1:227255860-227255861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369388905	chr1:227255890-227255891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4551562	chr1:227255941-227255942	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566205598	chr1:227255975-227255976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536764933	chr1:227256015-227256016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555012845	chr1:227256028-227256029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185147283	chr1:227256046-227256047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200261618	chr1:227256057-227256058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570588918	chr1:227256067-227256068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537199577	chr1:227256068-227256069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187243254	chr1:227256090-227256091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537881314	chr1:227256214-227256215	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73091778	chr1:227256217-227256218	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540657974	chr1:227256228-227256229	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538338563	chr1:227256288-227256289	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369656379	chr1:227256324-227256325	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192165436	chr1:227256333-227256334	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373773052	chr1:227256369-227256370	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574069462	chr1:227256401-227256402	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183889598	chr1:227256440-227256441	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541579062	chr1:227256441-227256442	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145167593	chr1:227256471-227256472	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576564404	chr1:227256513-227256514	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543992385	chr1:227256543-227256544	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565620055	chr1:227256571-227256572	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs118149406	chr1:227256572-227256573	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548080652	chr1:227256619-227256620	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114182647	chr1:227256649-227256650	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530062860	chr1:227256706-227256707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548396445	chr1:227256717-227256718	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188665023	chr1:227256742-227256743	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375874542	chr1:227256797-227256798	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534475894	chr1:227256855-227256856	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369117186	chr1:227256872-227256873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533953157	chr1:227256883-227256884	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192257591	chr1:227256894-227256895	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534627039	chr1:227256939-227256940	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552816141	chr1:227256962-227256963	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574106542	chr1:227256977-227256978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16846930	chr1:227257029-227257030	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556826746	chr1:227257057-227257058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16846933	chr1:227257075-227257076	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
3	chr1:227190600-227272600	Weak transcription	Lung	lung
4	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
5	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
8	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:227217000-227264400	Weak transcription	NHLF	lung
10	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
12	chr1:227220600-227255800	Weak transcription	Gastric	stomach
13	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
14	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:227220800-227256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:227222600-227256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
18	chr1:227226800-227260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:227227000-227256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:227227000-227272200	Weak transcription	Fetal Heart	heart
24	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:227227400-227256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:227227400-227256800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:227227400-227259800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:227227400-227272400	Weak transcription	Ovary	ovary
29	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
30	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
31	chr1:227227600-227259200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:227232000-227256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
35	chr1:227235800-227256600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:227235800-227256800	Weak transcription	A549	lung
37	chr1:227235800-227257000	Weak transcription	NHDF-Ad	bronchial
38	chr1:227235800-227271000	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
40	chr1:227238200-227256800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:227238400-227270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:227238600-227278400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:227239800-227271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:227239800-227271400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:227240200-227266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:227246400-227260600	Weak transcription	Osteobl	bone
48	chr1:227246400-227278400	Weak transcription	NH-A	brain
49	chr1:227247000-227260600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:227247000-227261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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