Variant report

Variant	esv3428401
Chromosome Location	chr17:45744864-45745394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45744609-45744864	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:45745074-45745903	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr17:45744257-45744988	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:45745141-45745244	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:45745269-45746397	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:45744337-45744905	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:45745222-45745872	PANC-1	pancreas:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45726598..45732836-chr17:45743871..45749720,11	K562	blood:
2	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
3	chr17:45743966..45745807-chr17:45749328..45753090,3	K562	blood:
4	chr17:45738206..45745873-chr17:45748268..45754078,8	K562	blood:

No data

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000198933	chromatin interactions
ENSG00000108424	chromatin interactions
ENSG00000263766	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386797446	chr17:45744913-45744914	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs368754217	chr17:45744928-45744929	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs76191002	chr17:45744929-45744930	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535028696	chr17:45744931-45744932	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs190987896	chr17:45744958-45744959	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73315878	chr17:45744993-45744994	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs531912625	chr17:45745018-45745019	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551656264	chr17:45745071-45745072	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs78581603	chr17:45745121-45745122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs564224113	chr17:45745131-45745132	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs183347007	chr17:45745147-45745148	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs112479716	chr17:45745163-45745164	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543162606	chr17:45745213-45745214	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs546235172	chr17:45745239-45745240	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs143580340	chr17:45745281-45745282	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs188803363	chr17:45745322-45745323	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs117788467	chr17:45745323-45745324	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs192673124	chr17:45745345-45745346	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs538058898	chr17:45745350-45745351	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs550349184	chr17:45745382-45745383	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
2	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
4	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
5	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
6	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:45729800-45752000	Strong transcription	Left Ventricle	heart
8	chr17:45729800-45761600	Strong transcription	HSMM	muscle
9	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45730800-45760600	Strong transcription	Lung	lung
12	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
14	chr17:45731200-45763800	Strong transcription	K562	blood
15	chr17:45731400-45762000	Strong transcription	NH-A	brain
16	chr17:45732400-45753400	Weak transcription	Right Atrium	heart
17	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:45732600-45748400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr17:45732600-45760200	Strong transcription	Brain Germinal Matrix	brain
20	chr17:45732600-45760400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45732600-45762000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:45732600-45762200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45732800-45750600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:45732800-45753200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:45732800-45760200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:45732800-45760600	Strong transcription	Fetal Intestine Large	intestine
27	chr17:45732800-45762200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45732800-45762200	Strong transcription	Adipose Nuclei	Adipose
29	chr17:45732800-45762600	Strong transcription	Brain Anterior Caudate	brain
30	chr17:45733000-45745600	Strong transcription	Osteobl	bone
31	chr17:45733000-45759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45733000-45759400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:45733000-45761600	Strong transcription	HepG2	liver
34	chr17:45733000-45763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:45733200-45760200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr17:45733200-45760400	Strong transcription	Hela-S3	cervix
37	chr17:45733200-45762400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:45733200-45763400	Strong transcription	NHEK	skin
39	chr17:45733200-45765000	Strong transcription	HMEC	breast
40	chr17:45733800-45753200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:45734000-45751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:45735400-45757600	Strong transcription	HUVEC	blood vessel
43	chr17:45736000-45747200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:45736200-45763600	Strong transcription	Dnd41	blood
45	chr17:45737000-45762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:45737800-45762600	Strong transcription	Thymus	Thymus
47	chr17:45737800-45764200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr17:45738000-45760200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr17:45738000-45762600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:45738000-45763800	Strong transcription	Liver	Liver

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