Variant report

Variant	esv3431861
Chromosome Location	chr1:176100979-176103402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176103163..176105549-chr1:176174911..176176507,2	MCF-7	breast:
2	chr1:176092493..176094007-chr1:176098723..176101277,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143207	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142878506	chr1:176100989-176100990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57729493	chr1:176100998-176100999	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547921690	chr1:176101021-176101022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561364606	chr1:176101038-176101039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115756907	chr1:176101067-176101068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548888193	chr1:176101101-176101102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568997168	chr1:176101133-176101134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537771125	chr1:176101151-176101152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188612415	chr1:176101172-176101173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151078581	chr1:176101178-176101179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533532943	chr1:176101201-176101202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77073543	chr1:176101309-176101310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371215731	chr1:176101340-176101341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142540971	chr1:176101343-176101344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374691370	chr1:176101374-176101375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573382385	chr1:176101384-176101385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72715115	chr1:176101388-176101389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75607477	chr1:176101406-176101407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139389222	chr1:176101413-176101414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537450210	chr1:176101439-176101440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78337215	chr1:176101488-176101489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565538126	chr1:176101532-176101533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61821028	chr1:176101605-176101606	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576612922	chr1:176101635-176101636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370286909	chr1:176101652-176101653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193177094	chr1:176101656-176101657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376252109	chr1:176101657-176101658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141942987	chr1:176101686-176101687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530150321	chr1:176101702-176101703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550219593	chr1:176101722-176101723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71514836	chr1:176101765-176101766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28667589	chr1:176101945-176101946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28434634	chr1:176101946-176101947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28517742	chr1:176101953-176101954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28517634	chr1:176101959-176101960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28702866	chr1:176101992-176101993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28363956	chr1:176101998-176101999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28669053	chr1:176102031-176102032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28696107	chr1:176102037-176102038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28447482	chr1:176102070-176102071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28439283	chr1:176102076-176102077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28453233	chr1:176102109-176102110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12741757	chr1:176102126-176102127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12728350	chr1:176102133-176102134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531490234	chr1:176102217-176102218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533339452	chr1:176102218-176102219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374572097	chr1:176102225-176102226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150094850	chr1:176102230-176102231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138393250	chr1:176102251-176102252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539277136	chr1:176102261-176102262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Mental retardation	17847001	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176048800-176107000	Weak transcription	HepG2	liver
2	chr1:176054400-176131600	Weak transcription	NH-A	brain
3	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
4	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
5	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:176069200-176123200	Weak transcription	Osteobl	bone
8	chr1:176069200-176126600	Weak transcription	HMEC	breast
9	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
10	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
13	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
14	chr1:176070800-176102200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:176070800-176102600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:176070800-176110600	Weak transcription	Small Intestine	intestine
17	chr1:176071600-176117800	Weak transcription	Gastric	stomach
18	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:176072400-176108600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:176072600-176107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:176072800-176114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:176072800-176114800	Weak transcription	NHDF-Ad	bronchial
23	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:176076200-176102000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:176076200-176126000	Weak transcription	Ovary	ovary
26	chr1:176076200-176127800	Weak transcription	Esophagus	oesophagus
27	chr1:176079800-176105400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:176080000-176103400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:176081200-176114800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:176083000-176126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:176083600-176102600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:176083800-176106200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:176085000-176101200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:176085400-176142400	Weak transcription	Lung	lung
35	chr1:176085600-176116400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:176085600-176122200	Weak transcription	Left Ventricle	heart
37	chr1:176085600-176122600	Weak transcription	Thymus	Thymus
38	chr1:176085600-176126000	Weak transcription	Fetal Stomach	stomach
39	chr1:176085600-176128600	Weak transcription	Placenta	Placenta
40	chr1:176085800-176101200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:176085800-176101200	Weak transcription	Fetal Thymus	thymus
42	chr1:176085800-176102400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:176085800-176102600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:176086000-176113000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:176086000-176114800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:176086200-176102400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:176087400-176122800	Weak transcription	NHEK	skin
48	chr1:176088600-176122800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:176089200-176111400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:176090800-176126600	Weak transcription	Fetal Brain Male	brain

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