Variant report

Variant	nsv525556
Chromosome Location	chr1:168653857-168662352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168408540..168410593-chr1:168659202..168660877,2	MCF-7	breast:
2	chr1:168658040..168660028-chr1:169075019..169076893,2	MCF-7	breast:
3	chr1:168635367..168638330-chr1:168655240..168657100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7416358	chr1:168653857-168653858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555752195	chr1:168653862-168653863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372822957	chr1:168653920-168653921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577273284	chr1:168653955-168653956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74231879	chr1:168654023-168654024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545127605	chr1:168654049-168654050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74927370	chr1:168654183-168654184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182460087	chr1:168654209-168654210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142192245	chr1:168654219-168654220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558761727	chr1:168654224-168654225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554220683	chr1:168654228-168654229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185651975	chr1:168654234-168654235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148819492	chr1:168654288-168654289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151193807	chr1:168654312-168654313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141293911	chr1:168654315-168654316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1415678	chr1:168654331-168654332	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190367478	chr1:168654364-168654365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79283388	chr1:168654398-168654399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75186087	chr1:168654428-168654429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147011000	chr1:168654448-168654449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548924642	chr1:168654459-168654460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567185437	chr1:168654649-168654650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537753577	chr1:168654674-168654675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555738213	chr1:168654688-168654689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10918958	chr1:168654716-168654717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147634084	chr1:168654738-168654739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553800638	chr1:168654857-168654858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572058985	chr1:168654862-168654863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141977683	chr1:168654868-168654869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10489358	chr1:168654873-168654874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs576804645	chr1:168654931-168654932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182764395	chr1:168654941-168654942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35973971	chr1:168654944-168654945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188489045	chr1:168654991-168654992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541089211	chr1:168655001-168655002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114822318	chr1:168655010-168655011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569322618	chr1:168655023-168655024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75855292	chr1:168655042-168655043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567171305	chr1:168655097-168655098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572273392	chr1:168655121-168655122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531486228	chr1:168655177-168655178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549689894	chr1:168655209-168655210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138556196	chr1:168655234-168655235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538592191	chr1:168655248-168655249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16861287	chr1:168655276-168655277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565721880	chr1:168655293-168655294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76001609	chr1:168655300-168655301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149268648	chr1:168655305-168655306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67955094	chr1:168655318-168655319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143476307	chr1:168655337-168655338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	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
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
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168653200-168655000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:168653400-168656200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:168653400-168656200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:168653600-168654800	Weak transcription	HepG2	liver
5	chr1:168653800-168658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:168654800-168657800	Enhancers	HepG2	liver
7	chr1:168655200-168659600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:168655400-168656400	Enhancers	Fetal Kidney	kidney
9	chr1:168655600-168656400	Enhancers	Fetal Intestine Large	intestine
10	chr1:168655600-168656600	Enhancers	Fetal Intestine Small	intestine
11	chr1:168655600-168656600	Enhancers	Pancreas	Pancrea
12	chr1:168656200-168656400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:168656200-168656400	Enhancers	A549	lung
14	chr1:168656200-168660800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:168656400-168656800	Weak transcription	Fetal Kidney	kidney
16	chr1:168656400-168657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:168656400-168657800	Weak transcription	A549	lung
18	chr1:168656400-168658000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:168656600-168657000	Weak transcription	Pancreas	Pancrea
20	chr1:168656600-168657800	Weak transcription	Fetal Intestine Small	intestine
21	chr1:168656800-168658200	Enhancers	Fetal Kidney	kidney
22	chr1:168657000-168657200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:168657000-168657200	Enhancers	Pancreas	Pancrea
24	chr1:168657000-168661000	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:168657200-168658000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:168657200-168658000	Weak transcription	Pancreas	Pancrea
27	chr1:168657200-168658800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:168657200-168658800	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:168657200-168659400	Enhancers	Stomach Mucosa	stomach
30	chr1:168657200-168660600	Enhancers	Fetal Heart	heart
31	chr1:168657400-168659400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:168657600-168658200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:168657600-168658200	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:168657600-168658400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:168657600-168658400	Enhancers	Brain Hippocampus Middle	brain
36	chr1:168657600-168659600	Enhancers	Ovary	ovary
37	chr1:168657800-168658000	Flanking Active TSS	HepG2	liver
38	chr1:168657800-168660000	Enhancers	A549	lung
39	chr1:168657800-168660400	Enhancers	Fetal Intestine Small	intestine
40	chr1:168658000-168658200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:168658000-168658200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:168658000-168658200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr1:168658000-168658200	Enhancers	HepG2	liver
44	chr1:168658000-168658800	Enhancers	Fetal Lung	lung
45	chr1:168658000-168659000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:168658000-168660000	Enhancers	Fetal Intestine Large	intestine
47	chr1:168658000-168660000	Enhancers	Fetal Stomach	stomach
48	chr1:168658000-168660600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:168658000-168662000	Enhancers	Pancreas	Pancrea
50	chr1:168658200-168658400	Flanking Active TSS	HepG2	liver

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