Variant report

Variant	esv1835152
Chromosome Location	chr1:175996260-176012807
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	chr1:176012549..176014630-chr1:176018952..176021858,2	MCF-7	breast:
2	chr1:175998716..176001033-chr1:176006174..176008100,2	K562	blood:
3	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:
4	chr1:175998716..176001033-chr1:176006174..176008100,2	K562	blood:
5	chr1:176004510..176007370-chr1:176012270..176013775,2	K562	blood:
6	chr1:176004510..176007370-chr1:176012270..176013775,2	K562	blood:
7	chr1:175994034..175996077-chr1:176001633..176003490,2	MCF-7	breast:
8	chr1:175993829..175995685-chr1:175998849..176000529,2	K562	blood:

No data

Extended variants
information (count: 596 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6687043	chr1:175996260-175996261	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12132072	chr1:175996304-175996305	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34638515	chr1:175996348-175996349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571581597	chr1:175996387-175996388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143133160	chr1:175996428-175996429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554348717	chr1:175996430-175996431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183087358	chr1:175996466-175996467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36020507	chr1:175996497-175996498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185983978	chr1:175996512-175996513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57962038	chr1:175996524-175996525	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190545914	chr1:175996529-175996530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544207487	chr1:175996567-175996568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183402949	chr1:175996569-175996570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577606204	chr1:175996596-175996597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535452061	chr1:175996619-175996620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372764339	chr1:175996669-175996670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376201919	chr1:175996684-175996685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201952794	chr1:175996688-175996689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368671990	chr1:175996690-175996691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377457784	chr1:175996691-175996692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371240219	chr1:175996760-175996761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187934719	chr1:175996878-175996879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367972081	chr1:175996880-175996881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367595243	chr1:175997014-175997015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562915469	chr1:175997016-175997017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10712525	chr1:175997036-175997037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397982019	chr1:175997049-175997050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370876622	chr1:175997072-175997073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140413911	chr1:175997077-175997078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147497327	chr1:175997104-175997105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71774101	chr1:175997106-175997107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551824094	chr1:175997140-175997141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192805021	chr1:175997142-175997143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534232781	chr1:175997153-175997154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566514268	chr1:175997156-175997157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182343089	chr1:175997240-175997241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372692127	chr1:175997254-175997255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536714690	chr1:175997329-175997330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556597159	chr1:175997337-175997338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187781631	chr1:175997358-175997359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562003432	chr1:175997383-175997384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538034146	chr1:175997399-175997400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557811709	chr1:175997445-175997446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527618274	chr1:175997508-175997509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145627602	chr1:175997558-175997559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559682941	chr1:175997566-175997567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60055089	chr1:175997581-175997582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541192937	chr1:175997615-175997616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35574875	chr1:175997663-175997664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542344474	chr1:175997668-175997669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175953800-175999600	Weak transcription	Colonic Mucosa	Colon
2	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:175973600-176003400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:175974000-176003000	Weak transcription	NH-A	brain
5	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:175975400-176003400	Weak transcription	NHLF	lung
7	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
8	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
9	chr1:175976600-176009400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:175978200-176001000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:175978200-176003600	Weak transcription	Small Intestine	intestine
13	chr1:175978200-176007400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
15	chr1:175978400-175996600	Weak transcription	Left Ventricle	heart
16	chr1:175978400-176001600	Weak transcription	Fetal Lung	lung
17	chr1:175978400-176003000	Weak transcription	HSMM	muscle
18	chr1:175978400-176006800	Weak transcription	Fetal Brain Female	brain
19	chr1:175978400-176007000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:175978400-176007000	Weak transcription	Fetal Kidney	kidney
21	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:175978600-176007000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:175978800-176003000	Weak transcription	A549	lung
27	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:175979400-176009200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:175979400-176012200	Weak transcription	HepG2	liver
30	chr1:175979600-176001000	Weak transcription	NHEK	skin
31	chr1:175979600-176010600	Weak transcription	Right Ventricle	heart
32	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
35	chr1:175980000-176001000	Weak transcription	NHDF-Ad	bronchial
36	chr1:175980200-176028000	Weak transcription	K562	blood
37	chr1:175981400-176009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:175981600-175999000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:175981600-176001600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:175982000-176009800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:175982200-176003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:175982200-176009400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:175982200-176009400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:175982200-176012200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:175982600-176003200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:175982800-176002800	Weak transcription	Hela-S3	cervix
47	chr1:175983400-176010600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:175984800-175996600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:175985800-176005400	Weak transcription	GM12878-XiMat	blood
50	chr1:175988000-175997600	Strong transcription	Primary monocytes fromperipheralblood	blood

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