Variant report

Variant	nsv873208
Chromosome Location	chr1:223603809-223639469
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223322286..223323076-chr1:223617469..223617980,2	MCF-7	breast:
2	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
3	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
4	chr1:223608260..223610550-chr1:223616264..223617958,2	MCF-7	breast:
5	chr1:223534849..223538429-chr1:223615365..223617815,4	MCF-7	breast:
6	chr1:223605027..223607773-chr1:223615819..223618091,2	MCF-7	breast:
7	chr1:223322186..223322942-chr1:223617607..223618444,2	MCF-7	breast:
8	chr1:223608260..223610550-chr1:223616264..223617958,2	MCF-7	breast:
9	chr1:223322170..223323076-chr1:223617469..223618437,3	MCF-7	breast:
10	chr1:223599220..223603471-chr1:223604968..223609274,4	MCF-7	breast:
11	chr1:223605027..223607773-chr1:223615819..223618091,2	MCF-7	breast:
12	chr1:223607026..223608626-chr1:223610171..223611706,2	K562	blood:
13	chr1:223305854..223308381-chr1:223616232..223619219,2	MCF-7	breast:
14	chr1:223322245..223323048-chr1:223608788..223609563,2	MCF-7	breast:
15	chr1:223594003..223597385-chr1:223616098..223619072,3	MCF-7	breast:
16	chr1:223604902..223607898-chr1:223616304..223618206,2	MCF-7	breast:
17	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
18	chr1:223636630..223638236-chr1:223641224..223644086,2	K562	blood:
19	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
20	chr1:223604902..223607898-chr1:223616304..223618206,2	MCF-7	breast:
21	chr1:223629209..223631667-chr1:223638762..223641073,2	K562	blood:
22	chr1:223611669..223614866-chr1:223615779..223618104,3	K562	blood:
23	chr1:223631487..223633878-chr1:223647540..223649343,2	MCF-7	breast:
24	chr1:223634345..223635904-chr1:223637556..223640417,2	MCF-7	breast:
25	chr1:223630029..223632403-chr1:223632439..223634932,2	K562	blood:
26	chr1:223574260..223577674-chr1:223613937..223618124,4	MCF-7	breast:
27	chr1:223438407..223440755-chr1:223638365..223640039,2	K562	blood:
28	chr1:223607026..223608626-chr1:223610171..223611706,2	K562	blood:
29	chr1:223597589..223600437-chr1:223603071..223605858,2	K562	blood:
30	chr1:223615693..223618296-chr1:223662772..223664878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143502	chromatin interactions
ENSG00000187554	chromatin interactions

Extended variants
information (count: 899 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:899 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12141995	chr1:223603809-223603810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528370094	chr1:223603855-223603856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546307639	chr1:223603858-223603859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567717179	chr1:223603868-223603869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs825134	chr1:223603882-223603883	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554545345	chr1:223603936-223603937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569114379	chr1:223603951-223603952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539620182	chr1:223603986-223603987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375175779	chr1:223604099-223604100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138018477	chr1:223604141-223604142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573495584	chr1:223604202-223604203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534501386	chr1:223604205-223604206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555836729	chr1:223604206-223604207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141023508	chr1:223604215-223604216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544718321	chr1:223604270-223604271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562941199	chr1:223604283-223604284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114560029	chr1:223604284-223604285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189879150	chr1:223604315-223604316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574720812	chr1:223604338-223604339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs825133	chr1:223604499-223604500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557003632	chr1:223604504-223604505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528423187	chr1:223604535-223604536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540512480	chr1:223604552-223604553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561357228	chr1:223604575-223604576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182359467	chr1:223604588-223604589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145032199	chr1:223604603-223604604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534577054	chr1:223604659-223604660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576964349	chr1:223604660-223604661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568581274	chr1:223604675-223604676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138868549	chr1:223604682-223604683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188450006	chr1:223604715-223604716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142091275	chr1:223604764-223604765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192681048	chr1:223604775-223604776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534233382	chr1:223604792-223604793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75483660	chr1:223604830-223604831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185428072	chr1:223604892-223604893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373560832	chr1:223604906-223604907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76600483	chr1:223604914-223604915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578054423	chr1:223605009-223605010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11321126	chr1:223605011-223605012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397769019	chr1:223605017-223605018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201598055	chr1:223605018-223605019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372920273	chr1:223605079-223605080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148096813	chr1:223605084-223605085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188295961	chr1:223605154-223605155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572953420	chr1:223605190-223605191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540139859	chr1:223605203-223605204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547450442	chr1:223605218-223605219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561623634	chr1:223605297-223605298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs825132	chr1:223605318-223605319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223595200-223609200	Weak transcription	Right Atrium	heart
2	chr1:223599400-223604600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:223601800-223605000	Enhancers	Colon Smooth Muscle	Colon
4	chr1:223602000-223604400	Enhancers	Fetal Heart	heart
5	chr1:223602000-223604400	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:223602200-223604200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:223602200-223604200	Enhancers	NHEK	skin
8	chr1:223602200-223604400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:223602200-223604600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:223602200-223604600	Enhancers	Stomach Smooth Muscle	stomach
11	chr1:223602400-223604200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:223602400-223604200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:223602400-223604200	Enhancers	NHDF-Ad	bronchial
14	chr1:223602400-223604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:223602400-223604400	Enhancers	HMEC	breast
16	chr1:223602400-223604600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:223602600-223604000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:223602600-223604000	Enhancers	Gastric	stomach
19	chr1:223602600-223604000	Enhancers	Stomach Mucosa	stomach
20	chr1:223602600-223604200	Enhancers	Pancreas	Pancrea
21	chr1:223602600-223604400	Enhancers	Osteobl	bone
22	chr1:223603000-223604400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:223603000-223609000	Weak transcription	Left Ventricle	heart
24	chr1:223603400-223605400	Enhancers	Esophagus	oesophagus
25	chr1:223603600-223604200	Enhancers	Ovary	ovary
26	chr1:223603600-223604400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:223603800-223604400	Enhancers	Aorta	Aorta
28	chr1:223603800-223604400	Enhancers	Fetal Stomach	stomach
29	chr1:223603800-223609000	Weak transcription	Right Ventricle	heart
30	chr1:223604200-223608600	Weak transcription	Pancreas	Pancrea
31	chr1:223604200-223609200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:223604400-223608200	Weak transcription	Fetal Heart	heart
33	chr1:223604600-223605800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:223604600-223605800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:223605000-223606000	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:223605800-223606400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:223606000-223606200	Enhancers	Colon Smooth Muscle	Colon
38	chr1:223606000-223606200	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:223606600-223606800	Enhancers	Adipose Nuclei	Adipose
40	chr1:223606800-223609000	Weak transcription	Adipose Nuclei	Adipose
41	chr1:223608200-223609600	Enhancers	Fetal Heart	heart
42	chr1:223608600-223609800	Enhancers	Pancreas	Pancrea
43	chr1:223609000-223609400	Enhancers	Adipose Nuclei	Adipose
44	chr1:223609000-223609600	Enhancers	Left Ventricle	heart
45	chr1:223609000-223609600	Enhancers	Right Ventricle	heart
46	chr1:223609200-223609400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:223609200-223609800	Enhancers	Right Atrium	heart
48	chr1:223610200-223611400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:223610200-223611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:223616200-223616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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