Variant report

Variant	nsv827984
Chromosome Location	chr17:37608583-37609302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr17:37609255-37609603	HepG2	liver:	n/a	n/a
2	FOXA2	chr17:37608578-37608843	HepG2	liver:	n/a	n/a
3	FOXA2	chr17:37609252-37609539	HepG2	liver:	n/a	n/a
4	HEY1	chr17:37608423-37608737	HepG2	liver:	n/a	n/a
5	HEY1	chr17:37609051-37609245	HepG2	liver:	n/a	n/a
6	HEY1	chr17:37609272-37609626	HepG2	liver:	n/a	n/a
7	MYBL2	chr17:37609073-37610672	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:37608172-37608694	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:37606823-37609040	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:37608965-37608971	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:37608944-37609044	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr17:37609072-37610162	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:37607986-37608618	GM12892	blood:	n/a	n/a
14	POLR2A	chr17:37606768-37608899	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:37608144-37608912	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr17:37608109-37608900	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:37608988-37610179	HepG2	liver:	n/a	n/a
18	STAT3	chr17:37608935-37609040	MCF10A-Er-Src	breast:	n/a	n/a
19	TEAD4	chr17:37609213-37610547	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37356852..37358951-chr17:37605399..37608667,3	MCF-7	breast:
2	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
3	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
4	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
5	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:
6	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:

No data

Variant related genes	Relation type
MED1	TF binding region
ENSG00000108298	chromatin interactions
ENSG00000167258	chromatin interactions
ENSG00000266469	chromatin interactions
ENSG00000108306	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147911619	chr17:37608638-37608639	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs577804080	chr17:37608641-37608642	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs545546601	chr17:37608643-37608644	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs543525246	chr17:37608651-37608652	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs557123383	chr17:37608689-37608690	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573921897	chr17:37608691-37608692	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs377637429	chr17:37608707-37608708	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs542839390	chr17:37608731-37608732	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs572650151	chr17:37608737-37608738	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539894713	chr17:37608749-37608750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs139965084	chr17:37608809-37608810	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs4795367	chr17:37608843-37608844	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs573158924	chr17:37608983-37608984	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs368627704	chr17:37608984-37608985	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs370113218	chr17:37608990-37608991	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs184799498	chr17:37608993-37608994	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs76816467	chr17:37608999-37609000	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs74349383	chr17:37609000-37609001	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373905210	chr17:37609042-37609043	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs187549549	chr17:37609067-37609068	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs4795369	chr17:37609120-37609121	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs564695710	chr17:37609126-37609127	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs532991465	chr17:37609155-37609156	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs192776554	chr17:37609171-37609172	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs566701853	chr17:37609283-37609284	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Chronic lymphocytic leukemia	21546498	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
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37606400-37608600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr17:37606600-37608800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:37606800-37608600	Active TSS	A549	lung
4	chr17:37606800-37608600	Active TSS	GM12878-XiMat	blood
5	chr17:37607800-37608800	Enhancers	Spleen	Spleen
6	chr17:37608000-37608600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:37608000-37608600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr17:37608000-37608600	Flanking Active TSS	Dnd41	blood
9	chr17:37608000-37608600	Flanking Active TSS	Hela-S3	cervix
10	chr17:37608200-37608600	Enhancers	Primary B cells from peripheral blood	blood
11	chr17:37608200-37608600	Enhancers	Primary hematopoietic stem cells	blood
12	chr17:37608200-37608600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:37608200-37608600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:37608200-37608600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:37608200-37608600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:37608200-37608600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:37608200-37608600	Enhancers	Fetal Heart	heart
18	chr17:37608200-37608600	Enhancers	Fetal Intestine Small	intestine
19	chr17:37608200-37608600	Enhancers	Fetal Muscle Trunk	muscle
20	chr17:37608200-37608600	Enhancers	Fetal Muscle Leg	muscle
21	chr17:37608200-37608600	Enhancers	Fetal Thymus	thymus
22	chr17:37608200-37608600	Flanking Active TSS	HepG2	liver
23	chr17:37608200-37608800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr17:37608200-37608800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr17:37608200-37608800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:37608200-37608800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr17:37608200-37608800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:37608200-37608800	Enhancers	Pancreas	Pancrea
29	chr17:37608200-37608800	Enhancers	Right Ventricle	heart
30	chr17:37608200-37611000	Enhancers	Fetal Intestine Large	intestine
31	chr17:37608400-37608600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:37608400-37608600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:37608400-37608600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:37608400-37608600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:37608400-37608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:37608400-37608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:37608400-37608600	Enhancers	Duodenum Mucosa	Duodenum
38	chr17:37608400-37608600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr17:37608400-37608600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr17:37608400-37608800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr17:37608400-37608800	Enhancers	K562	blood
42	chr17:37608400-37608800	Enhancers	NHEK	skin
43	chr17:37608400-37609000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr17:37608400-37612000	Enhancers	Liver	Liver
45	chr17:37608400-37616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:37608400-37617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:37608600-37608800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:37608600-37608800	Enhancers	GM12878-XiMat	blood
49	chr17:37608600-37609000	Weak transcription	Fetal Intestine Small	intestine
50	chr17:37608600-37609000	Enhancers	Dnd41	blood

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