Variant report

Variant	esv3330876
Chromosome Location	chr17:18023077-18025875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18025241..18027862-chr17:18084839..18087290,2	K562	blood:
2	chr17:18025526..18028279-chr17:18085788..18088431,2	MCF-7	breast:
3	chr17:18021481..18023947-chr17:18025054..18028164,3	MCF-7	breast:
4	chr17:18023938..18027022-chr17:18030857..18033750,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266677	chromatin interactions
ENSG00000091536	chromatin interactions
ENSG00000091542	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371387378	chr17:18023083-18023084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374329103	chr17:18023116-18023117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565206764	chr17:18023136-18023137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201044072	chr17:18023137-18023138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368278295	chr17:18023140-18023141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370918996	chr17:18023146-18023147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs527681283	chr17:18023155-18023156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs202142174	chr17:18023157-18023158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567657743	chr17:18023161-18023162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367955736	chr17:18023186-18023187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200382813	chr17:18023225-18023226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186829587	chr17:18023272-18023273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140221279	chr17:18023298-18023299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538819794	chr17:18023300-18023301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368682932	chr17:18023310-18023311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375608961	chr17:18023332-18023333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191710555	chr17:18023337-18023338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369866525	chr17:18023338-18023339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373107474	chr17:18023342-18023343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs202081139	chr17:18023348-18023349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369091395	chr17:18023355-18023356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372551257	chr17:18023386-18023387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527805638	chr17:18023390-18023391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376905344	chr17:18023437-18023438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565601169	chr17:18023458-18023459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371168663	chr17:18023466-18023467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374011803	chr17:18023473-18023474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs546359628	chr17:18023488-18023489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs145292219	chr17:18023499-18023500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201794569	chr17:18023501-18023502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375641004	chr17:18023505-18023506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377556661	chr17:18023525-18023526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs370497397	chr17:18023532-18023533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200532919	chr17:18023568-18023569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556943201	chr17:18023632-18023633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371331182	chr17:18023641-18023642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184302558	chr17:18023642-18023643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375626722	chr17:18023643-18023644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189255177	chr17:18023666-18023667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368626583	chr17:18023684-18023685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371936372	chr17:18023687-18023688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565387390	chr17:18023695-18023696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199695398	chr17:18023696-18023697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182472488	chr17:18023697-18023698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200836518	chr17:18023699-18023700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547305039	chr17:18023716-18023717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552189642	chr17:18023727-18023728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs369282352	chr17:18023738-18023739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371548876	chr17:18023744-18023745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199740747	chr17:18023748-18023749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:162)

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
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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18010600-18030400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:18011200-18026200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:18019200-18026800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:18021600-18024000	ZNF genes & repeats	Fetal Stomach	stomach
5	chr17:18021600-18025800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:18021600-18026800	Weak transcription	Psoas Muscle	Psoas
7	chr17:18022000-18024000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:18022000-18024000	ZNF genes & repeats	Placenta	Placenta
9	chr17:18022000-18025000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:18022400-18023800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:18022600-18023600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr17:18022800-18024000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:18024000-18024800	Weak transcription	Fetal Stomach	stomach
14	chr17:18024000-18025000	Weak transcription	Placenta	Placenta
15	chr17:18024000-18025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:18024600-18024800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:18024800-18025400	Enhancers	Fetal Stomach	stomach
18	chr17:18025000-18025200	Enhancers	Fetal Muscle Trunk	muscle
19	chr17:18025000-18025400	Enhancers	Placenta	Placenta
20	chr17:18025000-18028200	Enhancers	Fetal Muscle Leg	muscle
21	chr17:18025200-18025800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:18025200-18025800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr17:18025200-18026600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr17:18025200-18028400	Enhancers	Fetal Lung	lung
25	chr17:18025400-18025800	Bivalent Enhancer	Placenta	Placenta
26	chr17:18025600-18026200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr17:18025800-18026400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:18025800-18028000	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links