Variant report

Variant	esv1829273
Chromosome Location	chr17:15789513-15794687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15791472..15794195-chr17:15796023..15798848,3	K562	blood:
2	chr17:15791535..15794057-chr17:15795691..15797755,2	MCF-7	breast:
3	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:
4	chr17:15787293..15789868-chr17:15796195..15798125,2	K562	blood:
5	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:
6	chr17:15794544..15796258-chr17:15901823..15903663,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	chromatin interactions
ENSG00000214941	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547798243	chr17:15789532-15789533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1797461	chr17:15789534-15789535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534067348	chr17:15789639-15789640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376224744	chr17:15789700-15789701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549342134	chr17:15789857-15789858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191513377	chr17:15789871-15789872	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs149563283	chr17:15789872-15789873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs141893816	chr17:15789891-15789892	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs551159493	chr17:15789955-15789956	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs555465268	chr17:15790007-15790008	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554138148	chr17:15790044-15790045	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571332839	chr17:15790104-15790105	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533674361	chr17:15790267-15790268	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34611857	chr17:15790320-15790321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115737510	chr17:15790334-15790335	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561217475	chr17:15790352-15790353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556442339	chr17:15790353-15790354	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12449677	chr17:15790355-15790356	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183951638	chr17:15790380-15790381	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs56838426	chr17:15790442-15790443	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572482173	chr17:15790494-15790495	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201678358	chr17:15790573-15790574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541587871	chr17:15790607-15790608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80029363	chr17:15790611-15790612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371094428	chr17:15790617-15790618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530130534	chr17:15790710-15790711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112782659	chr17:15790721-15790722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12449706	chr17:15790766-15790767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147112444	chr17:15790859-15790860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151103087	chr17:15790896-15790897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551536138	chr17:15790942-15790943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571379680	chr17:15790965-15790966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527382980	chr17:15790972-15790973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576436061	chr17:15790978-15790979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569708239	chr17:15790997-15790998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541935105	chr17:15790999-15791000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535865935	chr17:15791000-15791001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141019789	chr17:15791003-15791004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35981207	chr17:15791019-15791020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532033389	chr17:15791020-15791021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543409360	chr17:15791045-15791046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199799616	chr17:15791088-15791089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538990043	chr17:15791089-15791090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188447580	chr17:15791108-15791109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192231602	chr17:15791115-15791116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368196778	chr17:15791133-15791134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541321243	chr17:15791138-15791139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572591132	chr17:15791154-15791155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541493978	chr17:15791189-15791190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555106137	chr17:15791190-15791191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15782600-15799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:15784200-15790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:15785800-15790000	Weak transcription	Fetal Muscle Leg	muscle
4	chr17:15786400-15790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:15786800-15790000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr17:15787200-15790200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:15787600-15790200	Weak transcription	HMEC	breast
8	chr17:15787600-15794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:15787600-15795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:15787600-15796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:15789000-15789600	Enhancers	HUVEC	blood vessel
12	chr17:15789000-15790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:15789200-15789600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:15789200-15789600	Enhancers	NHDF-Ad	bronchial
15	chr17:15789200-15790400	Enhancers	GM12878-XiMat	blood
16	chr17:15789200-15790600	Enhancers	K562	blood
17	chr17:15789200-15791000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:15789200-15791000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:15789200-15791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:15789400-15789600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:15789400-15790600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:15789400-15796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:15789600-15790000	Enhancers	NHEK	skin
24	chr17:15789600-15790400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:15789600-15790800	Enhancers	Primary hematopoietic stem cells	blood
26	chr17:15789600-15790800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr17:15789600-15796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:15789800-15790600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr17:15789800-15790600	Enhancers	Fetal Muscle Trunk	muscle
30	chr17:15789800-15791000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:15790000-15790400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr17:15790000-15790600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr17:15790000-15790600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:15790000-15790600	Enhancers	Fetal Muscle Leg	muscle
35	chr17:15790000-15790600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr17:15790000-15790800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr17:15790200-15790400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:15790200-15790400	Enhancers	Stomach Mucosa	stomach
39	chr17:15790200-15790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:15790200-15790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr17:15790200-15790600	Enhancers	Lung	lung
42	chr17:15790200-15790800	Enhancers	Primary T cells from cord blood	blood
43	chr17:15790200-15791000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr17:15790400-15790800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:15790400-15790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:15790600-15791000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr17:15790600-15791000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr17:15790600-15794000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:15790600-15794000	Weak transcription	Fetal Muscle Leg	muscle
50	chr17:15790600-15795400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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