Variant report

Variant	esv3400219
Chromosome Location	chr1:165369828-165374126
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165372897..165374942-chr1:165561137..165563189,2	MCF-7	breast:
2	chr1:165362225..165362834-chr1:165372541..165373410,2	MCF-7	breast:
3	chr1:165372874..165373802-chr1:165561869..165562669,5	MCF-7	breast:
4	chr1:165372861..165373913-chr1:165561845..165562894,14	MCF-7	breast:
5	chr1:165275539..165276395-chr1:165372901..165373865,2	MCF-7	breast:
6	chr1:165372904..165373771-chr1:165883155..165884105,2	K562	blood:
7	chr1:165365790..165368850-chr1:165370089..165372761,3	K562	blood:
8	chr1:165364275..165366637-chr1:165369565..165371818,2	K562	blood:

No data

Extended variants
information (count: 190 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574166891	chr1:165369829-165369830	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543173517	chr1:165369856-165369857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59154518	chr1:165369858-165369859	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs57548196	chr1:165369862-165369863	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145582845	chr1:165369869-165369870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549746525	chr1:165369915-165369916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181402131	chr1:165369937-165369938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201229916	chr1:165369957-165369958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138982150	chr1:165369958-165369959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530878815	chr1:165370049-165370050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533982780	chr1:165370060-165370061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137863025	chr1:165370067-165370068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550295614	chr1:165370113-165370114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78299594	chr1:165370148-165370149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117775000	chr1:165370150-165370151	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200101924	chr1:165370169-165370170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139414285	chr1:165370173-165370174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201260089	chr1:165370174-165370175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3831156	chr1:165370175-165370176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55901710	chr1:165370212-165370213	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs17429130	chr1:165370252-165370253	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186433267	chr1:165370312-165370313	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555316261	chr1:165370352-165370353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200913067	chr1:165370364-165370365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575143696	chr1:165370366-165370367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3215856	chr1:165370367-165370368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377754224	chr1:165370368-165370369	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56362364	chr1:165370400-165370401	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373440242	chr1:165370462-165370463	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376005365	chr1:165370473-165370474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10918169	chr1:165370475-165370476	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs201230670	chr1:165370480-165370481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200109967	chr1:165370494-165370495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202113272	chr1:165370500-165370501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373148482	chr1:165370513-165370514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149087358	chr1:165370515-165370516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376134851	chr1:165370584-165370585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574052967	chr1:165370614-165370615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533170734	chr1:165370638-165370639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536659837	chr1:165370739-165370740	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs283690	chr1:165370757-165370758	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs573378536	chr1:165370853-165370854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535711229	chr1:165370946-165370947	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555218981	chr1:165370950-165370951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565125555	chr1:165370970-165370971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575431771	chr1:165370999-165371000	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142359979	chr1:165371000-165371001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190046252	chr1:165371011-165371012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145954624	chr1:165371017-165371018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553970963	chr1:165371023-165371024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	17899364	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
Type 2 diabetes	19141583	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
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165362600-165371800	Weak transcription	Lung	lung
2	chr1:165362600-165378200	Weak transcription	Psoas Muscle	Psoas
3	chr1:165362800-165371800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:165362800-165371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:165362800-165392200	Weak transcription	Brain Anterior Caudate	brain
6	chr1:165363600-165378400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:165365000-165370400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:165367600-165370000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:165367800-165378600	Weak transcription	Fetal Lung	lung
10	chr1:165368200-165372000	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:165368400-165370400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:165368400-165372600	Weak transcription	Spleen	Spleen
13	chr1:165368400-165376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:165369600-165370800	Enhancers	Stomach Mucosa	stomach
15	chr1:165370000-165370800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:165370400-165371000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:165370400-165380800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:165370600-165370800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:165370600-165373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:165370800-165372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:165370800-165373000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:165370800-165373200	Weak transcription	Stomach Mucosa	stomach
23	chr1:165371800-165372000	Enhancers	Pancreas	Pancrea
24	chr1:165371800-165372000	Bivalent/Poised TSS	NHDF-Ad	bronchial
25	chr1:165371800-165372200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:165371800-165372200	ZNF genes & repeats	Lung	lung
27	chr1:165371800-165372200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:165372000-165372200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:165372000-165373400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:165372200-165373000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:165372200-165373000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:165372200-165373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:165372200-165373400	Weak transcription	Lung	lung
34	chr1:165372800-165373000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:165372800-165373600	Enhancers	HepG2	liver
36	chr1:165373000-165373200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr1:165373000-165373200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:165373000-165373200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:165373000-165373200	Bivalent/Poised TSS	GM12878-XiMat	blood
40	chr1:165373000-165373400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr1:165373000-165373400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr1:165373000-165373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:165373000-165373600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:165373000-165373600	Enhancers	Liver	Liver
45	chr1:165373000-165373600	Enhancers	Duodenum Mucosa	Duodenum
46	chr1:165373000-165373600	Enhancers	Right Ventricle	heart
47	chr1:165373000-165373600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:165373200-165373400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:165373200-165373400	Enhancers	Stomach Mucosa	stomach
50	chr1:165373200-165373600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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