Variant report

Variant	esv3490854
Chromosome Location	chr17:16030552-16030716
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	chr17:16025863..16027774-chr17:16028606..16031135,2	K562	blood:
2	chr17:16018918..16021715-chr17:16028326..16030856,2	K562	blood:

Variant related genes	Relation type
ENSG00000141027	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529674789	chr17:16030555-16030556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529054011	chr17:16030562-16030563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550482266	chr17:16030567-16030568	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534956523	chr17:16030568-16030569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56137799	chr17:16030569-16030570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532741271	chr17:16030570-16030571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552760476	chr17:16030571-16030572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566153848	chr17:16030572-16030573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55802498	chr17:16030573-16030574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186222522	chr17:16030576-16030577	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139723908	chr17:16030577-16030578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143632655	chr17:16030579-16030580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543067638	chr17:16030593-16030594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559563353	chr17:16030595-16030596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556030483	chr17:16030596-16030597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575977134	chr17:16030600-16030601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538549486	chr17:16030601-16030602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558289470	chr17:16030603-16030604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566430698	chr17:16030613-16030614	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565426484	chr17:16030614-16030615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572162411	chr17:16030619-16030620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550717917	chr17:16030621-16030622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547105652	chr17:16030623-16030624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560845992	chr17:16030625-16030626	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs62641986	chr17:16030627-16030628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543480857	chr17:16030633-16030634	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563966014	chr17:16030635-16030636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532817071	chr17:16030636-16030637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62641987	chr17:16030637-16030638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552922011	chr17:16030641-16030642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62636954	chr17:16030643-16030644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373060753	chr17:16030644-16030645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62636955	chr17:16030647-16030648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559871492	chr17:16030648-16030649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62636956	chr17:16030651-16030652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376368056	chr17:16030661-16030662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528708723	chr17:16030664-16030665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370735752	chr17:16030665-16030666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548649774	chr17:16030666-16030667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568503568	chr17:16030668-16030669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571679348	chr17:16030673-16030674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568848036	chr17:16030675-16030676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs62650875	chr17:16030683-16030684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190054158	chr17:16030689-16030690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151297115	chr17:16030691-16030692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62650876	chr17:16030693-16030694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538510304	chr17:16030696-16030697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	17550852	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
early-passage human iPS cells	21368824	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:16005000-16038600	Weak transcription	Stomach Mucosa	stomach
4	chr17:16006600-16064200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr17:16015400-16031800	Strong transcription	Fetal Intestine Large	intestine
6	chr17:16015600-16077600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:16015800-16064400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr17:16016400-16064200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:16016800-16048800	Strong transcription	Adipose Nuclei	Adipose
10	chr17:16017000-16039600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:16017200-16064200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:16017600-16036000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:16018600-16033800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:16018600-16037600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:16018600-16037600	Weak transcription	Right Ventricle	heart
16	chr17:16018600-16054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:16018800-16032600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr17:16019400-16040200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:16019400-16070400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:16019600-16042200	Strong transcription	Primary B cells from cord blood	blood
21	chr17:16019800-16056800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:16020200-16042600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr17:16020200-16064200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:16020400-16034000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:16020400-16034000	Strong transcription	A549	lung
26	chr17:16020400-16044000	Strong transcription	Dnd41	blood
27	chr17:16020400-16056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:16020600-16031400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:16020800-16033200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:16020800-16051400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:16021400-16042800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:16021600-16049800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:16021800-16031200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:16021800-16087600	Weak transcription	Fetal Brain Male	brain
35	chr17:16022000-16031000	Weak transcription	K562	blood
36	chr17:16022200-16031600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:16022200-16058400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr17:16022400-16037600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:16023200-16031200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr17:16023400-16038600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:16023600-16031200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:16023600-16033000	Weak transcription	Pancreas	Pancrea
43	chr17:16023600-16038600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:16024000-16033000	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:16024000-16037600	Weak transcription	Esophagus	oesophagus
46	chr17:16024200-16038400	Weak transcription	Brain Germinal Matrix	brain
47	chr17:16024400-16033200	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:16024600-16035400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr17:16024800-16031200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:16024800-16032400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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