Variant report

Variant	nsv9500
Chromosome Location	chr17:17232797-17235875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:17234534-17234850	IMR90	lung:	n/a	n/a
2	CEBPB	chr17:17234543-17234801	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr17:17235721-17235839	K562	blood:	n/a	n/a
4	CTCF	chr17:17235736-17235801	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:17235746-17235835	HepG2	liver:	n/a	n/a
6	CTCF	chr17:17235700-17235850	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr17:17235733-17235826	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr17:17235739-17235852	K562	blood:	n/a	n/a
9	ELF1	chr17:17235639-17235811	K562	blood:	n/a	chr17:17235748-17235761
10	POLR2A	chr17:17234236-17234436	K562	blood:	n/a	n/a
11	POLR2A	chr17:17235787-17235791	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17208563..17211113-chr17:17230202..17232936,2	K562	blood:

Variant related genes	Relation type
NT5M	TF binding region

Extended variants
information (count: 141 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149232275	chr17:17232805-17232806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181252692	chr17:17232820-17232821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565129557	chr17:17232830-17232831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572144365	chr17:17232879-17232880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144439688	chr17:17232914-17232915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535268749	chr17:17232953-17232954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561012920	chr17:17232959-17232960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185847890	chr17:17232967-17232968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367652627	chr17:17232969-17232970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148413038	chr17:17233011-17233012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562791270	chr17:17233018-17233019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562825730	chr17:17233032-17233033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34407368	chr17:17233050-17233051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9913775	chr17:17233112-17233113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531880049	chr17:17233118-17233119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9914424	chr17:17233172-17233173	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9914209	chr17:17233202-17233203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571836244	chr17:17233246-17233247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9915883	chr17:17233252-17233253	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542154467	chr17:17233303-17233304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147173090	chr17:17233337-17233338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567885133	chr17:17233340-17233341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536500336	chr17:17233381-17233382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62066156	chr17:17233402-17233403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575623807	chr17:17233441-17233442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538394209	chr17:17233442-17233443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191047937	chr17:17233475-17233476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572239332	chr17:17233483-17233484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183682556	chr17:17233491-17233492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12951434	chr17:17233550-17233551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574198278	chr17:17233556-17233557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549526002	chr17:17233611-17233612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77354575	chr17:17233612-17233613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189231431	chr17:17233622-17233623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12602026	chr17:17233625-17233626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12602003	chr17:17233626-17233627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543701949	chr17:17233630-17233631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151316130	chr17:17233635-17233636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190635991	chr17:17233648-17233649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11869507	chr17:17233680-17233681	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370857526	chr17:17233693-17233694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113072112	chr17:17233694-17233695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77749441	chr17:17233695-17233696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565251136	chr17:17233698-17233699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75322001	chr17:17233708-17233709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376787785	chr17:17233746-17233747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34100977	chr17:17233750-17233751	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564068627	chr17:17233798-17233799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567479526	chr17:17233820-17233821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375948184	chr17:17233835-17233836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
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
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	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
5	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
6	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
9	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
12	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:17224600-17248200	Weak transcription	Pancreas	Pancrea
14	chr17:17226000-17235600	Weak transcription	Spleen	Spleen
15	chr17:17226600-17251200	Weak transcription	Primary T cells from cord blood	blood
16	chr17:17226800-17246800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:17227200-17254000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:17228800-17245600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr17:17229000-17245800	Weak transcription	Dnd41	blood
22	chr17:17229200-17247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:17229400-17247800	Weak transcription	Fetal Intestine Small	intestine
25	chr17:17229600-17245600	Weak transcription	Brain Angular Gyrus	brain
26	chr17:17229600-17246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
28	chr17:17230000-17245800	Weak transcription	Brain Germinal Matrix	brain
29	chr17:17230000-17246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:17230000-17250000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:17230200-17235400	Weak transcription	Fetal Stomach	stomach
32	chr17:17230200-17236600	Weak transcription	Ovary	ovary
33	chr17:17230200-17245400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:17230200-17245400	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:17230200-17246000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr17:17230200-17250600	Weak transcription	Adipose Nuclei	Adipose
37	chr17:17230200-17252200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
39	chr17:17231600-17232800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:17231600-17247800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr17:17232000-17244600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:17232200-17244800	Weak transcription	Fetal Brain Female	brain
43	chr17:17232800-17233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:17232800-17246000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:17233400-17234200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:17234200-17234800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:17234200-17251200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:17234400-17234800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr17:17234400-17235000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:17234400-17235000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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