Variant report

Variant	esv3517733
Chromosome Location	chr17:46158877-46162749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46151032..46153908-chr17:46162151..46164546,2	MCF-7	breast:
2	chr17:46161644..46163852-chr17:46183835..46185644,2	MCF-7	breast:
3	chr17:46122926..46125743-chr17:46157405..46159438,2	K562	blood:
4	chr17:46161493..46163130-chr17:46201549..46203706,2	MCF-7	breast:
5	chr17:46125259..46127124-chr17:46161475..46163962,3	MCF-7	breast:
6	chr17:46161947..46162924-chr17:46175050..46175581,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000002919	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000263412	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542995093	chr17:46158901-46158902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs145272472	chr17:46158904-46158905	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58624511	chr17:46158908-46158909	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142259986	chr17:46158927-46158928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565771784	chr17:46158945-46158946	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528675782	chr17:46159007-46159008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148560610	chr17:46159024-46159025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577387497	chr17:46159037-46159038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568756127	chr17:46159046-46159047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537768604	chr17:46159047-46159048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557707803	chr17:46159096-46159097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570722921	chr17:46159126-46159127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370108404	chr17:46159156-46159157	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181467618	chr17:46159326-46159327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573330396	chr17:46159341-46159342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs12952163	chr17:46159391-46159392	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs538474610	chr17:46159426-46159427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554376129	chr17:46159429-46159430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141971134	chr17:46159482-46159483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543280861	chr17:46159483-46159484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184599146	chr17:46159509-46159510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563612280	chr17:46159512-46159513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576720533	chr17:46159561-46159562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545830717	chr17:46159589-46159590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559175292	chr17:46159590-46159591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528230908	chr17:46159592-46159593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548778441	chr17:46159603-46159604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377449525	chr17:46159623-46159624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12950938	chr17:46159647-46159648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12950947	chr17:46159654-46159655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562235255	chr17:46159668-46159669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12951020	chr17:46159718-46159719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531144365	chr17:46159752-46159753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71369829	chr17:46159811-46159812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs189491420	chr17:46159819-46159820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180683220	chr17:46159820-46159821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547011408	chr17:46159856-46159857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572999255	chr17:46159863-46159864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566835351	chr17:46159891-46159892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535529916	chr17:46159896-46159897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555459080	chr17:46159938-46159939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570857562	chr17:46159951-46159952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202094458	chr17:46159960-46159961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536854446	chr17:46159963-46159964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185295002	chr17:46159970-46159971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144693773	chr17:46160007-46160008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545467848	chr17:46160023-46160024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556480051	chr17:46160043-46160044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559329455	chr17:46160061-46160062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532063892	chr17:46160102-46160103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
2	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
4	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
6	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
7	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
8	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
9	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
10	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:46149000-46178000	Weak transcription	Lung	lung
12	chr17:46149200-46162600	Weak transcription	Hela-S3	cervix
13	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:46152600-46176800	Weak transcription	K562	blood
16	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
17	chr17:46153400-46170800	Weak transcription	HSMM	muscle
18	chr17:46153800-46162600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr17:46153800-46162600	Weak transcription	Fetal Brain Male	brain
20	chr17:46153800-46176800	Weak transcription	NHLF	lung
21	chr17:46154000-46162200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:46154000-46162400	Weak transcription	Colon Smooth Muscle	Colon
23	chr17:46154000-46163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:46154000-46163200	Weak transcription	Pancreas	Pancrea
25	chr17:46154200-46162400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr17:46154200-46163000	Weak transcription	Adipose Nuclei	Adipose
27	chr17:46154200-46163000	Weak transcription	Brain Substantia Nigra	brain
28	chr17:46154200-46163200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr17:46154200-46163600	Weak transcription	NHDF-Ad	bronchial
30	chr17:46154200-46176800	Weak transcription	HMEC	breast
31	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:46154400-46162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:46154400-46162200	Weak transcription	Fetal Kidney	kidney
34	chr17:46154400-46162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:46154400-46162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:46154400-46162600	Weak transcription	Liver	Liver
37	chr17:46154400-46162600	Weak transcription	Brain Hippocampus Middle	brain
38	chr17:46154400-46162600	Weak transcription	Gastric	stomach
39	chr17:46154400-46162600	Weak transcription	Ovary	ovary
40	chr17:46154400-46162600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:46154400-46162800	Weak transcription	Brain Germinal Matrix	brain
44	chr17:46154400-46163000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:46154400-46163000	Weak transcription	Brain Anterior Caudate	brain
46	chr17:46154400-46163000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr17:46154400-46163000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:46154400-46163200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:46154400-46163200	Weak transcription	Brain Angular Gyrus	brain
50	chr17:46154400-46163200	Weak transcription	Fetal Muscle Leg	muscle

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