Variant report

Variant	nsv962265
Chromosome Location	chr17:16064412-16074713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16064418..16066551-chr17:16067921..16069430,2	K562	blood:
2	chr17:16064418..16066551-chr17:16067921..16069430,2	K562	blood:
3	chr17:16057635..16060524-chr17:16061549..16064453,2	MCF-7	breast:
4	chr17:16056755..16059055-chr17:16074181..16076719,2	MCF-7	breast:
5	chr17:16055611..16057622-chr17:16062780..16064444,2	K562	blood:
6	chr17:16060434..16062194-chr17:16065832..16068470,2	K562	blood:
7	chr17:16073606..16076574-chr17:16118247..16120387,2	MCF-7	breast:
8	chr17:16074285..16076009-chr17:16119526..16121977,2	MCF-7	breast:
9	chr17:16072733..16074732-chr17:16076435..16078700,2	MCF-7	breast:
10	chr17:16073671..16077871-chr17:16116736..16119410,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108474	chromatin interactions
ENSG00000141027	chromatin interactions

Extended variants
information (count: 676 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142379947	chr17:16064421-16064422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373327395	chr17:16064437-16064438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545753015	chr17:16064475-16064476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576846204	chr17:16064476-16064477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545918487	chr17:16064488-16064489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs178655	chr17:16064534-16064535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3223245	chr17:16064536-16064537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200488427	chr17:16064544-16064545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372236016	chr17:16064545-16064546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67635232	chr17:16064577-16064578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10557510	chr17:16064596-16064597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375038898	chr17:16064616-16064617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559077115	chr17:16064622-16064623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376739563	chr17:16064653-16064654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186748239	chr17:16064694-16064695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs178654	chr17:16064716-16064717	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs150970554	chr17:16064723-16064724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550873107	chr17:16064780-16064781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564734419	chr17:16064782-16064783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566075866	chr17:16064862-16064863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202169529	chr17:16064899-16064900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533256398	chr17:16064932-16064933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181931717	chr17:16064940-16064941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201585445	chr17:16064954-16064955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192477291	chr17:16064956-16064957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199776766	chr17:16064962-16064963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74973634	chr17:16064973-16064974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534887950	chr17:16065006-16065007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114470694	chr17:16065012-16065013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535810864	chr17:16065031-16065032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73280274	chr17:16065038-16065039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376450363	chr17:16065062-16065063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71360154	chr17:16065081-16065082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201575994	chr17:16065083-16065084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376725112	chr17:16065092-16065093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199643012	chr17:16065118-16065119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549416277	chr17:16065120-16065121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371312775	chr17:16065124-16065125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568337547	chr17:16065131-16065132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142889129	chr17:16065156-16065157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557886158	chr17:16065164-16065165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373750656	chr17:16065166-16065167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537381977	chr17:16065168-16065169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556863577	chr17:16065171-16065172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200916544	chr17:16065177-16065178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377522277	chr17:16065185-16065186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201911897	chr17:16065196-16065197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577008429	chr17:16065208-16065209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539157254	chr17:16065212-16065213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552603759	chr17:16065243-16065244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Multiple myeloma	17550852	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
Breast cancer	17142309	CNVD
Autism	22102821	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16015600-16077600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:16019400-16070400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr17:16021800-16087600	Weak transcription	Fetal Brain Male	brain
4	chr17:16035400-16064600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:16035800-16103400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:16039200-16096800	Weak transcription	K562	blood
7	chr17:16042000-16094200	Weak transcription	Psoas Muscle	Psoas
8	chr17:16043400-16065800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr17:16045200-16069800	Strong transcription	Dnd41	blood
10	chr17:16046800-16064600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:16048400-16088000	Weak transcription	Fetal Brain Female	brain
12	chr17:16049200-16077600	Weak transcription	Right Ventricle	heart
13	chr17:16049200-16088600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:16049200-16093200	Weak transcription	Aorta	Aorta
15	chr17:16049200-16103400	Weak transcription	Spleen	Spleen
16	chr17:16049200-16108600	Weak transcription	Esophagus	oesophagus
17	chr17:16051800-16073800	Weak transcription	Left Ventricle	heart
18	chr17:16051800-16089400	Weak transcription	Brain Germinal Matrix	brain
19	chr17:16052000-16089000	Weak transcription	HSMMtube	muscle
20	chr17:16052200-16100400	Weak transcription	Ovary	ovary
21	chr17:16053200-16074800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:16054000-16064600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:16055000-16075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:16055000-16088600	Weak transcription	Colonic Mucosa	Colon
25	chr17:16055200-16075000	Weak transcription	HMEC	breast
26	chr17:16055200-16089400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr17:16055200-16102600	Weak transcription	Brain Angular Gyrus	brain
28	chr17:16055400-16094000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:16055400-16104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:16055800-16102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr17:16056200-16083800	Weak transcription	Gastric	stomach
32	chr17:16057200-16074200	Weak transcription	Hela-S3	cervix
33	chr17:16058000-16074200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:16058400-16074800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:16059400-16075000	Weak transcription	Thymus	Thymus
36	chr17:16059400-16083400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:16059400-16094200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr17:16059400-16102400	Weak transcription	Small Intestine	intestine
39	chr17:16059400-16102400	Weak transcription	NHLF	lung
40	chr17:16059400-16102800	Weak transcription	Pancreas	Pancrea
41	chr17:16059600-16067200	Weak transcription	Brain Anterior Caudate	brain
42	chr17:16059800-16093200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:16060000-16083600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:16060600-16087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:16061200-16067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:16061200-16089200	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:16061400-16075000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:16061400-16087200	Weak transcription	Fetal Kidney	kidney
49	chr17:16061600-16074800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:16061800-16070600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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