Variant report

Variant	esv16335
Chromosome Location	chr1:151291318-151293798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151277677..151279590-chr1:151290273..151292071,2	MCF-7	breast:
2	chr1:151283664..151286054-chr1:151293598..151295570,2	MCF-7	breast:
3	chr1:151286040..151288364-chr1:151291772..151293505,2	MCF-7	breast:
4	chr1:151290984..151293402-chr1:151302923..151305686,2	MCF-7	breast:
5	1:151289152-151293154..1:151411623-151426875	Hela-S3	cervix:
6	chr1:151290821..151293290-chr1:151295135..151297103,2	MCF-7	breast:
7	1:151293154-151295327..1:151411623-151426875	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000143393	chromatin interactions
ENSG00000143442	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116863876	chr1:151291378-151291379	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551226212	chr1:151291430-151291431	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371832597	chr1:151291442-151291443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570559122	chr1:151291470-151291471	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189495722	chr1:151291517-151291518	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553116074	chr1:151291526-151291527	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs572705792	chr1:151291553-151291554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369288332	chr1:151291610-151291611	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535457701	chr1:151291618-151291619	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7518924	chr1:151291701-151291702	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369620060	chr1:151291723-151291724	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535069823	chr1:151291769-151291770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143324055	chr1:151291790-151291791	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs35796277	chr1:151291811-151291812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372099675	chr1:151291829-151291830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543998042	chr1:151291833-151291834	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12071605	chr1:151291882-151291883	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181493480	chr1:151291896-151291897	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184160405	chr1:151291903-151291904	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559819781	chr1:151291977-151291978	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189482948	chr1:151291980-151291981	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113265846	chr1:151291988-151291989	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550614531	chr1:151292023-151292024	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs562222792	chr1:151292069-151292070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531279032	chr1:151292276-151292277	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575579896	chr1:151292307-151292308	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146697569	chr1:151292324-151292325	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571018261	chr1:151292353-151292354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181725847	chr1:151292379-151292380	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546691415	chr1:151292425-151292426	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372793911	chr1:151292428-151292429	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545865170	chr1:151292437-151292438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566580354	chr1:151292443-151292444	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535091671	chr1:151292460-151292461	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555385401	chr1:151292532-151292533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373767192	chr1:151292533-151292534	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs55908171	chr1:151292555-151292556	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146883961	chr1:151292585-151292586	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557632736	chr1:151292593-151292594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577387606	chr1:151292627-151292628	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540053477	chr1:151292659-151292660	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553176662	chr1:151292804-151292805	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186236483	chr1:151292835-151292836	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542123742	chr1:151292836-151292837	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150938761	chr1:151292843-151292844	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533646394	chr1:151292979-151292980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191044260	chr1:151293001-151293002	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530938325	chr1:151293101-151293102	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544875154	chr1:151293131-151293132	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79840956	chr1:151293144-151293145	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151257200-151297600	Strong transcription	Dnd41	blood
2	chr1:151257600-151293600	Strong transcription	Brain Germinal Matrix	brain
3	chr1:151258200-151297200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr1:151258400-151293400	Strong transcription	Fetal Brain Female	brain
5	chr1:151258400-151297800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:151260000-151298000	Strong transcription	Thymus	Thymus
7	chr1:151261600-151297800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:151262000-151298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:151262600-151297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:151265800-151298000	Strong transcription	Fetal Thymus	thymus
11	chr1:151271400-151298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:151273200-151298000	Strong transcription	Primary T cells from cord blood	blood
13	chr1:151273800-151297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:151274400-151295000	Strong transcription	Primary B cells from cord blood	blood
15	chr1:151280200-151299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:151280400-151299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:151283200-151298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:151283200-151299000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:151283400-151296000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:151283400-151297400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:151284600-151292400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:151284800-151292800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:151284800-151295200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:151285000-151297200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:151285200-151291600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:151285200-151295400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:151285200-151297400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:151285400-151294400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:151285600-151292200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:151285600-151298000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:151285800-151294400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:151286000-151294600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:151286400-151297800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:151286800-151298400	Strong transcription	Fetal Intestine Large	intestine
35	chr1:151287000-151291800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:151287000-151292400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151287000-151298400	Weak transcription	Small Intestine	intestine
38	chr1:151287000-151298600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:151287200-151291800	Strong transcription	Fetal Intestine Small	intestine
40	chr1:151287200-151292600	Strong transcription	Spleen	Spleen
41	chr1:151287200-151293000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:151287200-151294600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:151287200-151295400	Strong transcription	Fetal Lung	lung
44	chr1:151287200-151296200	Weak transcription	Stomach Mucosa	stomach
45	chr1:151287200-151297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:151287200-151298000	Weak transcription	Fetal Heart	heart
47	chr1:151287400-151292000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:151287400-151293000	Weak transcription	Psoas Muscle	Psoas
49	chr1:151287400-151293600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151287400-151297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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