Variant report

Variant	nsv826942
Chromosome Location	chr1:228118930-228124889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228077853..228079489-chr1:228118785..228120399,2	MCF-7	breast:
2	chr1:228120602..228123082-chr1:228127538..228129867,2	MCF-7	breast:
3	chr1:228116517..228118164-chr1:228120854..228122367,2	K562	blood:
4	chr1:227950090..227952610-chr1:228122891..228125327,3	MCF-7	breast:
5	chr1:228111067..228112932-chr1:228117820..228119468,2	MCF-7	breast:
6	chr1:228124876..228126546-chr1:228127658..228129176,2	K562	blood:
7	chr1:228120545..228123784-chr1:228127076..228130229,4	K562	blood:
8	chr1:228083548..228086316-chr1:228121354..228124098,2	MCF-7	breast:
9	chr1:228116517..228118419-chr1:228120867..228123021,2	K562	blood:
10	chr1:228120999..228125449-chr1:228127251..228129340,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264483	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2796055	chr1:228118934-228118935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572353335	chr1:228118954-228118955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12724968	chr1:228118963-228118964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149672874	chr1:228118990-228118991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537524859	chr1:228119129-228119130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557518160	chr1:228119146-228119147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60284113	chr1:228119161-228119162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531728364	chr1:228119175-228119176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532490581	chr1:228119184-228119185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543871217	chr1:228119191-228119192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60751757	chr1:228119192-228119193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570843100	chr1:228119212-228119213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188244278	chr1:228119260-228119261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36104676	chr1:228119269-228119270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2527615	chr1:228119283-228119284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs529939297	chr1:228119292-228119293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373093465	chr1:228119373-228119374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548063615	chr1:228119384-228119385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367925131	chr1:228119394-228119395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569796043	chr1:228119421-228119422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536766760	chr1:228119423-228119424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372060455	chr1:228119490-228119491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191787635	chr1:228119495-228119496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541768732	chr1:228119526-228119527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570395107	chr1:228119543-228119544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534317935	chr1:228119547-228119548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6680784	chr1:228119560-228119561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554075594	chr1:228119569-228119570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572389096	chr1:228119578-228119579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536514624	chr1:228119581-228119582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551785881	chr1:228119582-228119583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61230811	chr1:228119595-228119596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370398873	chr1:228119596-228119597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs686533	chr1:228119604-228119605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs576534387	chr1:228119605-228119606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543560028	chr1:228119629-228119630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6668168	chr1:228119701-228119702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375685403	chr1:228119721-228119722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565368982	chr1:228119742-228119743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577357597	chr1:228119748-228119749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575374520	chr1:228119760-228119761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541414398	chr1:228119775-228119776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559715218	chr1:228119853-228119854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145547869	chr1:228119897-228119898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182524998	chr1:228119898-228119899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563340430	chr1:228119907-228119908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530724947	chr1:228119909-228119910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187122919	chr1:228120048-228120049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4399155	chr1:228120050-228120051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs673726	chr1:228120173-228120174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
2	chr1:228099400-228122400	Weak transcription	HSMM	muscle
3	chr1:228106600-228121400	Weak transcription	Psoas Muscle	Psoas
4	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:228109600-228132000	Weak transcription	Gastric	stomach
6	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
7	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:228113000-228121400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:228113200-228120200	Weak transcription	HMEC	breast
10	chr1:228114400-228121800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:228116000-228119000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:228116400-228122800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:228117000-228121800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:228117000-228123600	Weak transcription	Fetal Stomach	stomach
15	chr1:228118000-228121200	Weak transcription	Lung	lung
16	chr1:228118000-228121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:228118000-228125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:228118000-228126000	Weak transcription	Esophagus	oesophagus
19	chr1:228118200-228121200	Weak transcription	Spleen	Spleen
20	chr1:228118200-228121400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:228118200-228121400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:228118200-228124400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:228118400-228124600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:228118400-228133000	Weak transcription	Ovary	ovary
25	chr1:228118800-228119000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:228118800-228119000	Enhancers	Pancreas	Pancrea
27	chr1:228118800-228121600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:228119000-228120000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:228119000-228121200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:228119000-228128000	Weak transcription	Pancreas	Pancrea
31	chr1:228119400-228119800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:228119600-228120400	Enhancers	Thymus	Thymus
33	chr1:228119600-228120600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:228120000-228120200	Enhancers	Primary T cells from cord blood	blood
35	chr1:228120000-228120600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:228120200-228120400	Bivalent Enhancer	Primary T cells from cord blood	blood
37	chr1:228120200-228120600	Enhancers	HMEC	breast
38	chr1:228120400-228122400	Weak transcription	A549	lung
39	chr1:228120600-228120800	Genic enhancers	HMEC	breast
40	chr1:228120600-228124800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:228120800-228121000	Weak transcription	HMEC	breast
42	chr1:228120800-228121200	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr1:228121000-228121600	Genic enhancers	HMEC	breast
44	chr1:228121000-228122000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:228121000-228132600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:228121200-228121400	Enhancers	Spleen	Spleen
47	chr1:228121200-228121600	Enhancers	Lung	lung
48	chr1:228121200-228121800	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:228121200-228123400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:228121400-228121600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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