Variant report

Variant	nsv872577
Chromosome Location	chr1:180223870-180238243
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
2	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
3	chr1:180205131..180207128-chr1:180224432..180227137,2	MCF-7	breast:
4	chr1:180220889..180223156-chr1:180225392..180228382,2	K562	blood:
5	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
6	chr1:180224667..180226177-chr1:180228800..180230829,2	K562	blood:
7	chr1:180216843..180220408-chr1:180221567..180224092,3	K562	blood:
8	chr1:180219285..180221814-chr1:180225122..180228087,3	K562	blood:
9	chr1:180226862..180229211-chr1:180475733..180477754,2	MCF-7	breast:
10	chr1:180220917..180222476-chr1:180232380..180234060,2	MCF-7	breast:
11	chr1:180197053..180202321-chr1:180236654..180241118,5	MCF-7	breast:
12	chr1:180222556..180224240-chr1:180362387..180364458,2	MCF-7	breast:
13	chr1:180199210..180201909-chr1:180224032..180226440,2	MCF-7	breast:
14	chr1:180223698..180225799-chr1:180234216..180237340,3	K562	blood:
15	chr1:180222481..180224218-chr1:180470814..180473381,2	K562	blood:
16	chr1:180223335..180225527-chr1:180451966..180453650,2	K562	blood:
17	chr1:180226218..180228794-chr1:180228958..180230849,2	K562	blood:
18	chr1:180236987..180238620-chr1:180240813..180243453,2	K562	blood:
19	chr1:180197504..180199167-chr1:180224925..180226535,2	MCF-7	breast:
20	chr1:180213073..180215826-chr1:180222774..180224846,2	K562	blood:
21	chr1:180200127..180202190-chr1:180221742..180224179,2	MCF-7	breast:
22	chr1:180194875..180197086-chr1:180228281..180230421,3	MCF-7	breast:
23	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
24	chr1:180197810..180199929-chr1:180225212..180227754,2	MCF-7	breast:
25	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:
26	chr1:180234099..180236359-chr1:180237257..180239459,3	MCF-7	breast:
27	chr1:180228697..180230849-chr1:180243270..180244817,2	K562	blood:
28	chr1:180229024..180231831-chr1:180234327..180236591,2	K562	blood:
29	chr1:180224817..180227850-chr1:180239195..180241654,3	MCF-7	breast:
30	chr1:180234099..180236359-chr1:180237257..180239459,3	MCF-7	breast:
31	chr1:180199137..180201712-chr1:180222737..180224917,2	K562	blood:
32	chr1:180223698..180225799-chr1:180234216..180237340,3	K562	blood:
33	chr1:180197410..180201386-chr1:180231377..180237159,7	MCF-7	breast:
34	chr1:180221132..180228794-chr1:180228825..180237340,13	K562	blood:
35	chr1:180226912..180229884-chr1:180233692..180235253,2	K562	blood:
36	chr1:180198631..180200637-chr1:180221908..180224237,2	K562	blood:

No data

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

Extended variants
information (count: 656 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3843274	chr1:180223870-180223871	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138874018	chr1:180223882-180223883	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569474951	chr1:180223889-180223890	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs142154620	chr1:180223890-180223891	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551122359	chr1:180223940-180223941	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558396902	chr1:180223949-180223950	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372378857	chr1:180224003-180224004	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369785927	chr1:180224005-180224006	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571839246	chr1:180224016-180224017	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112865767	chr1:180224023-180224024	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144633989	chr1:180224096-180224097	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368198296	chr1:180224160-180224161	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533408738	chr1:180224161-180224162	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551663149	chr1:180224183-180224184	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs12089591	chr1:180224205-180224206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542687374	chr1:180224222-180224223	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556505213	chr1:180224225-180224226	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561283015	chr1:180224243-180224244	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576345804	chr1:180224245-180224246	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192960807	chr1:180224247-180224248	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544876195	chr1:180224287-180224288	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564741508	chr1:180224288-180224289	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527442028	chr1:180224298-180224299	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542228721	chr1:180224369-180224370	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540817587	chr1:180224389-180224390	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560866263	chr1:180224402-180224403	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529774115	chr1:180224428-180224429	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184457651	chr1:180224454-180224455	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569597020	chr1:180224458-180224459	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532063495	chr1:180224459-180224460	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189217945	chr1:180224460-180224461	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113342969	chr1:180224466-180224467	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181905959	chr1:180224498-180224499	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534443694	chr1:180224499-180224500	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs71785064	chr1:180224500-180224501	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138582674	chr1:180224523-180224524	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113422007	chr1:180224530-180224531	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536717849	chr1:180224532-180224533	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367737552	chr1:180224546-180224547	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556305390	chr1:180224555-180224556	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530919244	chr1:180224564-180224565	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576340828	chr1:180224586-180224587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141674675	chr1:180224600-180224601	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56039422	chr1:180224649-180224650	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190654585	chr1:180224652-180224653	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543775362	chr1:180224653-180224654	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144431003	chr1:180224681-180224682	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs180720107	chr1:180224694-180224695	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568175865	chr1:180224709-180224710	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574461490	chr1:180224723-180224724	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 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:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180213600-180225800	Weak transcription	Right Atrium	heart
2	chr1:180219200-180224400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:180221200-180224200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:180222000-180224000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:180222200-180224000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:180222200-180224600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:180222400-180224000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr1:180222600-180224800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:180222600-180225000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:180222600-180239200	Weak transcription	Gastric	stomach
11	chr1:180222800-180224200	Enhancers	Pancreas	Pancrea
12	chr1:180222800-180224600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:180223000-180224200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:180223000-180224600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:180223200-180224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:180223200-180224600	Enhancers	Fetal Heart	heart
17	chr1:180223400-180224600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:180223600-180224400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:180223600-180224600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:180223600-180225800	Weak transcription	Spleen	Spleen
21	chr1:180223800-180224000	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr1:180223800-180224600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:180223800-180225200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:180223800-180234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:180224000-180224400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:180224000-180225200	Bivalent Enhancer	HepG2	liver
27	chr1:180224000-180225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:180224000-180234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:180224200-180224600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:180224200-180225800	Weak transcription	Pancreas	Pancrea
31	chr1:180224200-180228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:180224400-180224600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:180224400-180224600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:180224400-180224600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:180224400-180224600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:180224400-180224600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:180224400-180224800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:180224400-180225400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:180224600-180224800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:180224600-180225000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:180224600-180225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:180224600-180226000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:180224600-180234200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:180224800-180225000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr1:180224800-180225000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr1:180224800-180225600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:180224800-180226400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr1:180225000-180225600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:180225200-180225400	Flanking Active TSS	HepG2	liver
50	chr1:180225400-180225600	Bivalent Enhancer	HepG2	liver

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