Variant report

Variant	esv3347241
Chromosome Location	chr17:17229227-17232425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17228475..17230243-chr17:17230448..17232701,2	K562	blood:
2	chr17:17228475..17230243-chr17:17230448..17232701,2	K562	blood:
3	chr17:17205995..17209793-chr17:17228137..17230862,4	MCF-7	breast:
4	chr17:17208563..17211113-chr17:17230202..17232936,2	K562	blood:

Variant related genes	Relation type
ENSG00000205309	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532565288	chr17:17229227-17229228	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575507259	chr17:17229281-17229282	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552480894	chr17:17229303-17229304	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566258849	chr17:17229304-17229305	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528752844	chr17:17229345-17229346	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372408816	chr17:17229346-17229347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs16942153	chr17:17229373-17229374	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs150422337	chr17:17229374-17229375	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537181518	chr17:17229393-17229394	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79347227	chr17:17229395-17229396	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184150123	chr17:17229421-17229422	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539626540	chr17:17229423-17229424	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541905950	chr17:17229428-17229429	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375363530	chr17:17229429-17229430	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553171426	chr17:17229452-17229453	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555712465	chr17:17229505-17229506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542064109	chr17:17229508-17229509	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112025915	chr17:17229510-17229511	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138229111	chr17:17229558-17229559	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149287433	chr17:17229601-17229602	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113256426	chr17:17229628-17229629	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370952663	chr17:17229646-17229647	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572685901	chr17:17229658-17229659	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532435139	chr17:17229675-17229676	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546008551	chr17:17229710-17229711	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559850997	chr17:17229711-17229712	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528790614	chr17:17229714-17229715	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142655414	chr17:17229739-17229740	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74746253	chr17:17229792-17229793	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530494170	chr17:17229821-17229822	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374760236	chr17:17229838-17229839	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116749773	chr17:17229861-17229862	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35554631	chr17:17229867-17229868	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs374064366	chr17:17229870-17229871	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539514735	chr17:17229903-17229904	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114791598	chr17:17229915-17229916	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377104323	chr17:17229916-17229917	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566622440	chr17:17229922-17229923	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369777572	chr17:17229948-17229949	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535423872	chr17:17229995-17229996	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555632349	chr17:17229996-17229997	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574521434	chr17:17230058-17230059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188195909	chr17:17230061-17230062	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs193166587	chr17:17230135-17230136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576927407	chr17:17230136-17230137	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545852457	chr17:17230141-17230142	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184147648	chr17:17230198-17230199	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79580771	chr17:17230238-17230239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573379242	chr17:17230257-17230258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111689430	chr17:17230264-17230265	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
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
Gastric cancer	18160780	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
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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17229600	Weak transcription	Adipose Nuclei	Adipose
4	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
6	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
7	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
11	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:17217000-17229600	Weak transcription	Gastric	stomach
13	chr17:17217000-17231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
16	chr17:17219000-17231400	Weak transcription	K562	blood
17	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:17223600-17230200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
20	chr17:17225400-17229800	Strong transcription	Thymus	Thymus
21	chr17:17225400-17230000	Strong transcription	Brain Germinal Matrix	brain
22	chr17:17225400-17230200	Strong transcription	Brain Anterior Caudate	brain
23	chr17:17225600-17230200	Strong transcription	Fetal Stomach	stomach
24	chr17:17225800-17230000	Strong transcription	Fetal Brain Female	brain
25	chr17:17226000-17229400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:17226000-17230000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:17226000-17230200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:17226000-17230200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr17:17226000-17235600	Weak transcription	Spleen	Spleen
30	chr17:17226200-17232000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr17:17226400-17229400	Strong transcription	Fetal Intestine Small	intestine
32	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
33	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:17227600-17230400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr17:17228000-17229600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:17228000-17229800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:17228000-17230000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:17228000-17230200	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr17:17228000-17230200	Strong transcription	Ovary	ovary
41	chr17:17228000-17230200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr17:17228200-17229400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:17228800-17245600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:17229000-17229600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:17229000-17229600	Strong transcription	Brain Angular Gyrus	brain
48	chr17:17229000-17245800	Weak transcription	Dnd41	blood
49	chr17:17229200-17247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain

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