Variant report

Variant	esv3315257
Chromosome Location	chr17:34030008-34032324
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	EP300	chr17:34032211-34032572	SK-N-SH_RA	brain:	n/a	n/a
2	GATA3	chr17:34032204-34032531	SH-SY5Y	brain:	n/a	chr17:34032460-34032472
3	GATA3	chr17:34031344-34031600	SH-SY5Y	brain:	n/a	n/a
4	MYC	chr17:34030113-34030208	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr17:34030037-34030208	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33914577..33916506-chr17:34030215..34033067,2	K562	blood:
2	chr17:34028855..34030467-chr17:34034063..34035967,2	K562	blood:

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000006125	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587678353	chr17:34030017-34030018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139972400	chr17:34030020-34030021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587769820	chr17:34030030-34030031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374309277	chr17:34030055-34030056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181045705	chr17:34030058-34030059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184135057	chr17:34030087-34030088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190640822	chr17:34030119-34030120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587660917	chr17:34030175-34030176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587720701	chr17:34030201-34030202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587599743	chr17:34030232-34030233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587677360	chr17:34030245-34030246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587732852	chr17:34030248-34030249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs57503007	chr17:34030284-34030285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397811937	chr17:34030301-34030302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371766808	chr17:34030311-34030312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201911700	chr17:34030322-34030323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367748884	chr17:34030326-34030327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587632627	chr17:34030343-34030344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587659523	chr17:34030381-34030382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587747433	chr17:34030412-34030413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7221081	chr17:34030421-34030422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs150776521	chr17:34030453-34030454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7221096	chr17:34030454-34030455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs587633551	chr17:34030499-34030500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587715470	chr17:34030500-34030501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587770963	chr17:34030533-34030534	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587650641	chr17:34030562-34030563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181978664	chr17:34030590-34030591	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587765390	chr17:34030646-34030647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587633185	chr17:34030657-34030658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71381468	chr17:34030698-34030699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587722623	chr17:34030726-34030727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587601192	chr17:34030805-34030806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149793237	chr17:34030826-34030827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140865663	chr17:34030838-34030839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117694302	chr17:34030846-34030847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62078161	chr17:34030850-34030851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144259884	chr17:34030853-34030854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs67198067	chr17:34030854-34030855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71152745	chr17:34030857-34030858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12944227	chr17:34030858-34030859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62078162	chr17:34030860-34030861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201281032	chr17:34030865-34030866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201605040	chr17:34030866-34030867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371471047	chr17:34030872-34030873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186143170	chr17:34030907-34030908	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190758502	chr17:34030918-34030919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181597337	chr17:34030972-34030973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs587667051	chr17:34030998-34030999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145786347	chr17:34031040-34031041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD
Gastric cancer	21811585	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
4	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
6	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
7	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
8	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
9	chr17:34013600-34036000	Weak transcription	NHLF	lung
10	chr17:34016000-34036600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:34017200-34034600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:34017800-34040400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:34018800-34034600	Weak transcription	Pancreas	Pancrea
14	chr17:34018800-34036000	Weak transcription	Gastric	stomach
15	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
16	chr17:34019000-34044000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:34021000-34036800	Weak transcription	NHEK	skin
18	chr17:34021200-34037000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:34022000-34036000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:34022000-34036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:34022200-34036000	Weak transcription	Ovary	ovary
22	chr17:34022200-34042400	Weak transcription	Aorta	Aorta
23	chr17:34022400-34036000	Weak transcription	Left Ventricle	heart
24	chr17:34022600-34035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:34022600-34036000	Weak transcription	Psoas Muscle	Psoas
26	chr17:34022800-34036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:34022800-34036200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:34022800-34036400	Weak transcription	Colon Smooth Muscle	Colon
29	chr17:34023000-34034800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:34023000-34034800	Weak transcription	Brain Angular Gyrus	brain
31	chr17:34023000-34035200	Weak transcription	GM12878-XiMat	blood
32	chr17:34023000-34036800	Weak transcription	NHDF-Ad	bronchial
33	chr17:34023200-34031200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:34023200-34034600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:34023200-34034800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:34023200-34034800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:34023200-34035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:34023200-34035800	Weak transcription	Brain Anterior Caudate	brain
39	chr17:34023200-34036000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr17:34023200-34036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:34023200-34036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:34023200-34036800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:34023200-34037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:34023200-34037400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:34023200-34043800	Weak transcription	Spleen	Spleen
46	chr17:34023200-34044000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr17:34023400-34034600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:34023400-34034800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:34023400-34036000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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