Variant report

Variant	esv2647158
Chromosome Location	chr17:34010985-34012381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:34011109-34011275	K562	blood:	n/a	n/a
2	BRCA1	chr17:34011306-34011619	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr17:34011289-34011636	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr17:34011443-34011648	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr17:34011438-34011768	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr17:34011448-34011772	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr17:34011474-34011773	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr17:34011485-34011773	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr17:34011856-34012256	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr17:34011209-34011614	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr17:34011250-34011854	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr17:34011469-34011860	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr17:34011214-34011820	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr17:34011321-34011792	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr17:34012089-34012226	MCF10A-Er-Src	breast:	n/a	n/a
16	RFX5	chr17:34012020-34012149	H1-hESC	embryonic stem cell:	n/a	n/a
17	SPI1	chr17:34010567-34011071	HL-60	blood:	n/a	n/a
18	TEAD4	chr17:34011226-34011821	ECC-1	luminal epithelium:	n/a	n/a
19	TEAD4	chr17:34011369-34011635	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr17:34011325-34011783	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAS2L2-1	chr17:34010123-34011922	ENSG00000245181
2	lnc-GAS2L2-1	chr17:34010128-34011922	ENSG00000267003.1

No data

Variant related genes	Relation type
ENSG00000267003	TF binding region
IPO5	miRNA target sites

Extended variants
information (count: 37 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587617182	chr17:34010988-34010989	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs587682857	chr17:34011004-34011005	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs368119543	chr17:34011027-34011028	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs146934168	chr17:34011045-34011046	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs587672669	chr17:34011051-34011052	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs587722222	chr17:34011116-34011117	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs587626574	chr17:34011131-34011132	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79524105	chr17:34011154-34011155	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs587763717	chr17:34011155-34011156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs587622616	chr17:34011188-34011189	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs587697502	chr17:34011251-34011252	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs73990261	chr17:34011300-34011301	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34795364	chr17:34011303-34011304	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3890901	chr17:34011322-34011323	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs111539023	chr17:34011345-34011346	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs368284667	chr17:34011358-34011359	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs372844211	chr17:34011359-34011360	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs147629625	chr17:34011397-34011398	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs117557474	chr17:34011443-34011444	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs587625578	chr17:34011515-34011516	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs587684518	chr17:34011543-34011544	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs587691373	chr17:34011560-34011561	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs140896129	chr17:34011600-34011601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs80196649	chr17:34011730-34011731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs12949341	chr17:34011819-34011820	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74427538	chr17:34011827-34011828	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs138580511	chr17:34011828-34011829	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs188551067	chr17:34011879-34011880	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs587749320	chr17:34011910-34011911	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs192736144	chr17:34011961-34011962	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587700657	chr17:34011962-34011963	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148884367	chr17:34011968-34011969	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145053388	chr17:34012227-34012228	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs587681203	chr17:34012334-34012335	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116737986	chr17:34012358-34012359	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587672732	chr17:34012368-34012369	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587707110	chr17:34012378-34012379	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	22522925	CNVD
Gastric cancer	21811585	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr17:33979400-34016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:33995800-34024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:33997400-34023200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:33997600-34024600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
12	chr17:33999600-34018200	Weak transcription	Fetal Kidney	kidney
13	chr17:34000000-34014200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:34001800-34014000	Weak transcription	Right Ventricle	heart
15	chr17:34001800-34014800	Weak transcription	Brain Substantia Nigra	brain
16	chr17:34001800-34018200	Weak transcription	Esophagus	oesophagus
17	chr17:34002000-34017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
20	chr17:34002200-34011600	Weak transcription	HepG2	liver
21	chr17:34002200-34014600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:34002200-34015000	Weak transcription	HUVEC	blood vessel
23	chr17:34002200-34017000	Weak transcription	Brain Angular Gyrus	brain
24	chr17:34002400-34013200	Weak transcription	Brain Germinal Matrix	brain
25	chr17:34004600-34011800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:34004800-34016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:34005400-34011400	Strong transcription	Fetal Lung	lung
28	chr17:34005400-34024400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:34005400-34028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr17:34005600-34011800	Strong transcription	Adipose Nuclei	Adipose
31	chr17:34005600-34018800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:34005600-34024400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr17:34005800-34012000	Strong transcription	Primary T cells from cord blood	blood
34	chr17:34005800-34026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:34006000-34024400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:34006200-34011000	Strong transcription	Fetal Stomach	stomach
37	chr17:34006200-34011200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:34006200-34018800	Strong transcription	Fetal Muscle Leg	muscle
39	chr17:34006200-34018800	Strong transcription	Dnd41	blood
40	chr17:34006400-34012000	Strong transcription	Liver	Liver
41	chr17:34006400-34018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:34006400-34019000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:34006400-34024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:34006600-34018800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:34006600-34019000	Strong transcription	Fetal Intestine Large	intestine
46	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
47	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
48	chr17:34006800-34018600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr17:34007000-34012200	Strong transcription	Fetal Thymus	thymus
50	chr17:34007000-34016400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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