Variant report

Variant	nsv825442
Chromosome Location	chr1:174160121-174162508
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174134604..174137311-chr1:174161839..174164526,2	K562	blood:
2	chr1:174158960..174161694-chr1:174164662..174167169,2	K562	blood:
3	chr1:174161180..174162878-chr1:174165954..174168802,3	K562	blood:
4	chr1:174157753..174160187-chr1:174164644..174167517,2	MCF-7	breast:
5	chr1:174134604..174137057-chr1:174160693..174163339,2	K562	blood:
6	chr1:174128241..174130281-chr1:174157762..174160299,2	K562	blood:
7	chr1:174159869..174162419-chr1:174173364..174176167,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000227373	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374215026	chr1:174160153-174160154	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576060146	chr1:174160167-174160168	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs149498410	chr1:174160338-174160339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553876945	chr1:174160341-174160342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10912742	chr1:174160343-174160344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542768999	chr1:174160363-174160364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556188543	chr1:174160398-174160399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576332987	chr1:174160412-174160413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551230349	chr1:174160447-174160448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544966615	chr1:174160456-174160457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183539568	chr1:174160471-174160472	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140220254	chr1:174160475-174160476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186436800	chr1:174160496-174160497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191031870	chr1:174160575-174160576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561519236	chr1:174160640-174160641	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113410191	chr1:174160690-174160691	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530234058	chr1:174160699-174160700	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550394238	chr1:174160738-174160739	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183355164	chr1:174160758-174160759	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565740744	chr1:174160782-174160783	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554558693	chr1:174160791-174160792	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532872483	chr1:174160830-174160831	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143965181	chr1:174160842-174160843	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571286790	chr1:174160885-174160886	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368544007	chr1:174160891-174160892	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139856290	chr1:174160892-174160893	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553916000	chr1:174160921-174160922	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567326315	chr1:174160923-174160924	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535961938	chr1:174160948-174160949	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530273461	chr1:174160994-174160995	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536520239	chr1:174161019-174161020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576142827	chr1:174161032-174161033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17300775	chr1:174161039-174161040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs143194969	chr1:174161057-174161058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376735015	chr1:174161058-174161059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375830694	chr1:174161101-174161102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572116258	chr1:174161111-174161112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540979500	chr1:174161167-174161168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543760729	chr1:174161190-174161191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560941368	chr1:174161294-174161295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368271958	chr1:174161346-174161347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574915630	chr1:174161392-174161393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543533526	chr1:174161415-174161416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146663697	chr1:174161424-174161425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563933061	chr1:174161425-174161426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532570966	chr1:174161428-174161429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2143114	chr1:174161430-174161431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs555339964	chr1:174161457-174161458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560050637	chr1:174161461-174161462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3056994	chr1:174161475-174161476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Intellectual disability	22102821	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
Retinoblastoma	19183342	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
Burkitt''s lymphoma	19759907	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174164800	Weak transcription	Gastric	stomach
2	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
3	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
4	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174158800-174160200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:174159000-174160400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:174159000-174163600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:174159200-174161000	Enhancers	Fetal Intestine Large	intestine
9	chr1:174159400-174161000	Enhancers	Small Intestine	intestine
10	chr1:174159600-174160200	Enhancers	HepG2	liver
11	chr1:174159600-174160600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:174159600-174161000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:174159600-174161000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:174159800-174160200	Enhancers	Placenta	Placenta
15	chr1:174159800-174160200	Enhancers	Right Atrium	heart
16	chr1:174159800-174160600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:174159800-174160600	Enhancers	Stomach Mucosa	stomach
18	chr1:174159800-174160800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:174159800-174160800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:174159800-174161000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:174159800-174161000	Enhancers	Fetal Heart	heart
22	chr1:174159800-174161000	Flanking Active TSS	Hela-S3	cervix
23	chr1:174159800-174161000	Flanking Active TSS	NHEK	skin
24	chr1:174159800-174161200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:174159800-174170200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:174160000-174160200	Genic enhancers	GM12878-XiMat	blood
27	chr1:174160000-174160600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:174160000-174160800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:174160000-174160800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:174160000-174160800	Enhancers	Ovary	ovary
31	chr1:174160000-174161000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:174160000-174161000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:174160000-174161000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:174160000-174161000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:174160000-174163200	Weak transcription	K562	blood
36	chr1:174160000-174163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:174160000-174163600	Weak transcription	Dnd41	blood
38	chr1:174160000-174173600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:174160200-174160800	Enhancers	GM12878-XiMat	blood
40	chr1:174160200-174161600	Enhancers	NHDF-Ad	bronchial
41	chr1:174160200-174163000	Weak transcription	Placenta	Placenta
42	chr1:174160200-174163200	Weak transcription	Right Atrium	heart
43	chr1:174160200-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:174160400-174160600	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:174160400-174160800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:174160400-174161000	Enhancers	NHLF	lung
47	chr1:174160600-174161000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:174160600-174161600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:174160600-174173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:174160800-174161000	Enhancers	Primary T helper cells PMA-I stimulated	--

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