Variant report

Variant	nsv872576
Chromosome Location	chr1:180221084-180238243
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:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:180226862..180229211-chr1:180475733..180477754,2	MCF-7	breast:
2	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
3	chr1:180221964..180223660-chr1:180469973..180471619,2	MCF-7	breast:
4	chr1:180220917..180222476-chr1:180232380..180234060,2	MCF-7	breast:
5	chr1:180223335..180225527-chr1:180451966..180453650,2	K562	blood:
6	chr1:180200127..180202190-chr1:180221742..180224179,2	MCF-7	breast:
7	chr1:180216843..180220408-chr1:180221567..180224092,3	K562	blood:
8	chr1:180198631..180200637-chr1:180221908..180224237,2	K562	blood:
9	chr1:180228697..180230849-chr1:180243270..180244817,2	K562	blood:
10	chr1:180194875..180197086-chr1:180228281..180230421,3	MCF-7	breast:
11	chr1:180223698..180225799-chr1:180234216..180237340,3	K562	blood:
12	chr1:180221010..180222431-chr1:180384882..180385873,4	MCF-7	breast:
13	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
14	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
15	chr1:180200237..180200800-chr1:180221493..180222077,2	MCF-7	breast:
16	chr1:180224817..180227850-chr1:180239195..180241654,3	MCF-7	breast:
17	chr1:180221876..180222417-chr1:180451282..180451839,4	K562	blood:
18	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:
19	chr1:180213073..180215826-chr1:180222774..180224846,2	K562	blood:
20	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
21	chr1:180222556..180224240-chr1:180362387..180364458,2	MCF-7	breast:
22	chr1:180221695..180222356-chr1:180382040..180383006,2	MCF-7	breast:
23	chr1:180157472..180157976-chr1:180220457..180221410,2	K562	blood:
24	chr1:180199210..180201909-chr1:180224032..180226440,2	MCF-7	breast:
25	chr1:180221499..180222071-chr1:180454988..180455624,2	MCF-7	breast:
26	chr1:180234099..180236359-chr1:180237257..180239459,3	MCF-7	breast:
27	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
28	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
29	chr1:180223698..180225799-chr1:180234216..180237340,3	K562	blood:
30	chr1:180234099..180236359-chr1:180237257..180239459,3	MCF-7	breast:
31	chr1:180197504..180199167-chr1:180224925..180226535,2	MCF-7	breast:
32	chr1:180197410..180201386-chr1:180231377..180237159,7	MCF-7	breast:
33	chr1:180155464..180157247-chr1:180221856..180223365,2	K562	blood:
34	chr1:180220762..180222485-chr1:180240954..180243364,2	K562	blood:
35	chr1:180221615..180222392-chr1:180451323..180452198,2	MCF-7	breast:
36	chr1:180219285..180221814-chr1:180225122..180228087,3	K562	blood:
37	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
38	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:
39	chr1:180199137..180201712-chr1:180222737..180224917,2	K562	blood:
40	chr1:180221460..180222513-chr1:180446948..180447843,5	K562	blood:
41	chr1:180221511..180222402-chr1:180384611..180385850,8	K562	blood:
42	chr1:180236987..180238620-chr1:180240813..180243453,2	K562	blood:
43	chr1:180221502..180222361-chr1:180447062..180448015,4	MCF-7	breast:
44	chr1:180220889..180223156-chr1:180225392..180228382,2	K562	blood:
45	chr1:180219285..180221814-chr1:180225122..180228087,3	K562	blood:
46	chr1:180222481..180224218-chr1:180470814..180473381,2	K562	blood:
47	chr1:180197810..180199929-chr1:180225212..180227754,2	MCF-7	breast:
48	chr1:180197450..180200103-chr1:180218151..180221090,2	MCF-7	breast:
49	chr1:180197794..180200054-chr1:180220932..180222468,2	MCF-7	breast:
50	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230124	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000121454	chromatin interactions

Extended variants
information (count: 772 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs357069	chr1:180221084-180221085	Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532689448	chr1:180221209-180221210	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546012864	chr1:180221273-180221274	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377166538	chr1:180221294-180221295	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528586677	chr1:180221295-180221296	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10913954	chr1:180221312-180221313	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564488715	chr1:180221323-180221324	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79008224	chr1:180221346-180221347	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77094018	chr1:180221383-180221384	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550696137	chr1:180221390-180221391	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144985978	chr1:180221402-180221403	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374242879	chr1:180221412-180221413	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111934615	chr1:180221418-180221419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553218404	chr1:180221439-180221440	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566642677	chr1:180221487-180221488	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183316364	chr1:180221498-180221499	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559788187	chr1:180221531-180221532	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs6425617	chr1:180221588-180221589	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544240876	chr1:180221591-180221592	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79058837	chr1:180221629-180221630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577484415	chr1:180221689-180221690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529534300	chr1:180221722-180221723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550979374	chr1:180221815-180221816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187472021	chr1:180221819-180221820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546061737	chr1:180221828-180221829	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs79058372	chr1:180221851-180221852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569241584	chr1:180221872-180221873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528624328	chr1:180221895-180221896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs80064572	chr1:180221921-180221922	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562256754	chr1:180221926-180221927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530888620	chr1:180221945-180221946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550987491	chr1:180221955-180221956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs115812398	chr1:180221972-180221973	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533285364	chr1:180221989-180221990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190829756	chr1:180222008-180222009	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs202097078	chr1:180222118-180222119	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs5779055	chr1:180222119-180222120	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs398074457	chr1:180222123-180222124	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201472120	chr1:180222124-180222125	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199880748	chr1:180222125-180222126	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368562479	chr1:180222126-180222127	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570119799	chr1:180222196-180222197	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566682363	chr1:180222272-180222273	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554064842	chr1:180222295-180222296	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183424676	chr1:180222309-180222310	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186633765	chr1:180222316-180222317	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537526472	chr1:180222368-180222369	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs557759818	chr1:180222383-180222384	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577173362	chr1:180222401-180222402	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs17371998	chr1:180222503-180222504	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180213600-180225800	Weak transcription	Right Atrium	heart
2	chr1:180216400-180221600	Weak transcription	A549	lung
3	chr1:180216600-180221600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:180217000-180221600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:180217400-180222000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:180217600-180222800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:180218400-180221400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:180219000-180221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:180219000-180222000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:180219200-180222200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:180219200-180223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:180219200-180223000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:180219200-180223200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:180219200-180224400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:180219400-180221600	Weak transcription	HSMMtube	muscle
16	chr1:180219600-180222800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:180219800-180222000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:180219800-180223600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:180220200-180221400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:180221000-180221200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:180221000-180221200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr1:180221200-180224200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:180221400-180221600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:180221400-180222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:180221400-180222800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:180221600-180221800	Enhancers	HSMMtube	muscle
27	chr1:180221600-180222200	Enhancers	A549	lung
28	chr1:180221600-180222600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:180221600-180222600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:180221800-180222400	Enhancers	HepG2	liver
31	chr1:180222000-180222200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:180222000-180222200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:180222000-180222400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:180222000-180223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:180222000-180223800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:180222000-180224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:180222200-180222800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:180222200-180224000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:180222200-180224600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:180222400-180222600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:180222400-180222600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:180222400-180223800	Flanking Active TSS	HepG2	liver
43	chr1:180222400-180224000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr1:180222600-180222800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:180222600-180223000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:180222600-180224800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:180222600-180225000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:180222600-180239200	Weak transcription	Gastric	stomach
49	chr1:180222800-180223400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:180222800-180223600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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