Variant report

Variant	esv3441277
Chromosome Location	chr17:15367127-15370125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15353769..15358146-chr17:15361916..15367322,5	MCF-7	breast:
2	chr17:15354358..15356547-chr17:15369300..15371690,2	K562	blood:
3	chr17:15367748..15369462-chr17:15373391..15375933,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC005838.1-4	chr17:15369845-15372023	ENSG00000264762.1

Variant related genes	Relation type
ENSG00000239704	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569709504	chr17:15367176-15367177	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56137000	chr17:15367281-15367282	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145404200	chr17:15367282-15367283	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560462201	chr17:15367355-15367356	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs193249656	chr17:15367356-15367357	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185714508	chr17:15367368-15367369	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577099192	chr17:15367392-15367393	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145247596	chr17:15367423-15367424	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs116765325	chr17:15367467-15367468	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188999148	chr17:15367476-15367477	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116065025	chr17:15367539-15367540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577341651	chr17:15367543-15367544	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546488122	chr17:15367566-15367567	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545802446	chr17:15367597-15367598	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553282880	chr17:15367599-15367600	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562669840	chr17:15367606-15367607	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143230465	chr17:15367626-15367627	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs74783273	chr17:15367663-15367664	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561736959	chr17:15367683-15367684	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192262741	chr17:15367686-15367687	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184044983	chr17:15367691-15367692	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563520392	chr17:15367700-15367701	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532240937	chr17:15367751-15367752	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528624122	chr17:15367752-15367753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552328121	chr17:15367757-15367758	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559732560	chr17:15367758-15367759	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528386931	chr17:15367782-15367783	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547176795	chr17:15367791-15367792	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs548219547	chr17:15367862-15367863	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188731494	chr17:15367918-15367919	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376284433	chr17:15367964-15367965	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541875521	chr17:15367974-15367975	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537174821	chr17:15367975-15367976	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369667057	chr17:15368000-15368001	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561885581	chr17:15368002-15368003	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180724100	chr17:15368063-15368064	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570509435	chr17:15368067-15368068	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539671536	chr17:15368084-15368085	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186105878	chr17:15368098-15368099	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73287796	chr17:15368120-15368121	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535710249	chr17:15368131-15368132	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148381263	chr17:15368148-15368149	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575521479	chr17:15368157-15368158	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527662494	chr17:15368193-15368194	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564451672	chr17:15368194-15368195	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140702959	chr17:15368197-15368198	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74840269	chr17:15368199-15368200	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147439329	chr17:15368247-15368248	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116141276	chr17:15368254-15368255	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533638796	chr17:15368258-15368259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

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
Breast cancer	21509527	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
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Autism	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15340600-15399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:15341400-15368400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:15341400-15375800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:15349400-15368800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:15356800-15378000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:15357800-15375800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:15359200-15404600	Weak transcription	Primary T cells from cord blood	blood
8	chr17:15359400-15386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:15359600-15383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:15360200-15369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:15361200-15387800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:15361400-15385400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:15361600-15373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:15361800-15369600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:15361800-15382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:15362000-15368200	Weak transcription	HepG2	liver
17	chr17:15362400-15369200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:15365800-15367600	Enhancers	Osteobl	bone
19	chr17:15366000-15367200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:15366000-15367400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:15366000-15367600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:15366000-15367800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:15366000-15368000	Enhancers	Rectal Smooth Muscle	rectum
24	chr17:15366000-15368000	Enhancers	Hela-S3	cervix
25	chr17:15366000-15368200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:15366000-15368200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:15366000-15368200	Enhancers	Fetal Lung	lung
28	chr17:15366000-15368400	Enhancers	Brain Anterior Caudate	brain
29	chr17:15366000-15368600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:15366000-15368600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15366000-15368600	Enhancers	HSMMtube	muscle
32	chr17:15366000-15368600	Enhancers	NHDF-Ad	bronchial
33	chr17:15366000-15368600	Enhancers	NHLF	lung
34	chr17:15366000-15368800	Enhancers	Colon Smooth Muscle	Colon
35	chr17:15366000-15368800	Enhancers	HSMM	muscle
36	chr17:15366000-15369200	Enhancers	Brain Angular Gyrus	brain
37	chr17:15366000-15369200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr17:15366000-15369600	Enhancers	Fetal Muscle Leg	muscle
39	chr17:15366000-15369800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr17:15366200-15367200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr17:15366200-15367800	Enhancers	Gastric	stomach
42	chr17:15366200-15367800	Enhancers	NH-A	brain
43	chr17:15366200-15368000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr17:15366200-15368200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr17:15366200-15368200	Enhancers	Fetal Heart	heart
46	chr17:15366200-15368200	Enhancers	Ovary	ovary
47	chr17:15366200-15368600	Enhancers	Right Atrium	heart
48	chr17:15366200-15370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:15366400-15367200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:15366400-15367200	Enhancers	HMEC	breast

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