Variant report

Variant	esv3347852
Chromosome Location	chr17:15850852-15851693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15842605..15845101-chr17:15849558..15852028,2	K562	blood:
2	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
3	chr17:15850283..15852272-chr17:15862525..15865065,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182513208	chr17:15850856-15850857	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572136532	chr17:15850859-15850860	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540121219	chr17:15850862-15850863	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35747920	chr17:15850864-15850865	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147155197	chr17:15850882-15850883	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs758855	chr17:15850942-15850943	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542466209	chr17:15850985-15850986	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562568024	chr17:15850999-15851000	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75569918	chr17:15851025-15851026	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs140310554	chr17:15851061-15851062	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs116248073	chr17:15851120-15851121	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs758856	chr17:15851196-15851197	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548065124	chr17:15851221-15851222	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs541434091	chr17:15851259-15851260	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs561742646	chr17:15851293-15851294	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs567863717	chr17:15851387-15851388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs527578049	chr17:15851429-15851430	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs187110486	chr17:15851471-15851472	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs550124696	chr17:15851494-15851495	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs373469110	chr17:15851498-15851499	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs56339443	chr17:15851512-15851513	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs374330573	chr17:15851517-15851518	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs7208072	chr17:15851559-15851560	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558661359	chr17:15851578-15851579	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs373739153	chr17:15851593-15851594	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs565727537	chr17:15851610-15851611	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs201898050	chr17:15851620-15851621	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs150453210	chr17:15851621-15851622	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs566072443	chr17:15851622-15851623	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs56317334	chr17:15851623-15851624	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs199931070	chr17:15851625-15851626	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs534756547	chr17:15851637-15851638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs76392987	chr17:15851655-15851656	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs573868117	chr17:15851667-15851668	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15848000-15851000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:15848600-15851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:15849000-15852000	Enhancers	Spleen	Spleen
4	chr17:15849400-15851000	Enhancers	Lung	lung
5	chr17:15849400-15851200	Enhancers	Gastric	stomach
6	chr17:15849400-15851400	Bivalent Enhancer	Fetal Stomach	stomach
7	chr17:15849400-15852200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr17:15849600-15851000	Enhancers	A549	lung
9	chr17:15849600-15851800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:15849600-15852000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:15849600-15852000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:15849600-15852200	Enhancers	Stomach Mucosa	stomach
13	chr17:15849600-15860600	Weak transcription	Pancreas	Pancrea
14	chr17:15849800-15851000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr17:15849800-15851200	Enhancers	Colon Smooth Muscle	Colon
16	chr17:15849800-15851200	Weak transcription	Right Atrium	heart
17	chr17:15849800-15851400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:15849800-15851600	Flanking Active TSS	HepG2	liver
19	chr17:15849800-15852000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr17:15849800-15852000	Active TSS	Rectal Smooth Muscle	rectum
21	chr17:15849800-15852200	Enhancers	Placenta	Placenta
22	chr17:15849800-15852200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:15850000-15851400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:15850000-15851400	Enhancers	HSMM	muscle
25	chr17:15850000-15851600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:15850000-15851600	Flanking Active TSS	Colonic Mucosa	Colon
27	chr17:15850000-15852200	Enhancers	Fetal Intestine Large	intestine
28	chr17:15850000-15852200	Enhancers	Hela-S3	cervix
29	chr17:15850000-15852200	Flanking Active TSS	HMEC	breast
30	chr17:15850200-15851200	Weak transcription	Left Ventricle	heart
31	chr17:15850200-15851400	Enhancers	HSMMtube	muscle
32	chr17:15850200-15851600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:15850200-15851600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr17:15850200-15852200	Enhancers	Esophagus	oesophagus
35	chr17:15850200-15854600	Weak transcription	Right Ventricle	heart
36	chr17:15850200-15859200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:15850200-15860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:15850400-15851000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr17:15850400-15851200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:15850400-15851400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr17:15850400-15851600	Enhancers	Fetal Muscle Leg	muscle
42	chr17:15850400-15852200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr17:15850400-15856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr17:15850600-15851000	Flanking Active TSS	NHEK	skin
45	chr17:15850600-15851200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:15850600-15851200	Enhancers	HUVEC	blood vessel
47	chr17:15850600-15851400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:15850600-15851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:15850600-15851600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:15850600-15851600	Enhancers	Fetal Intestine Small	intestine

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