Variant report

Variant	esv3380537
Chromosome Location	chr17:38140175-38140396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38140394-38142008	K562	blood:	n/a	n/a
2	POLR2A	chr17:38140342-38141747	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr17:38140390-38141753	PFSK-1	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38038617..38042523-chr17:38137576..38140223,3	K562	blood:
2	chr17:38081395..38083587-chr17:38139253..38141219,2	K562	blood:
3	chr17:38140110..38141671-chr17:38147134..38149344,2	K562	blood:
4	chr17:38136187..38139299-chr17:38140015..38144342,5	K562	blood:
5	chr17:38137253..38140627-chr17:38150200..38152697,4	MCF-7	breast:
6	chr17:38138604..38140537-chr17:38144740..38146417,2	K562	blood:
7	chr17:38135505..38137340-chr17:38139696..38141236,2	MCF-7	breast:
8	chr17:38139958..38142841-chr17:38144945..38147813,2	MCF-7	breast:
9	chr17:38139951..38141671-chr17:38146998..38149344,2	K562	blood:
10	chr17:38139548..38141921-chr17:38833362..38835168,2	K562	blood:

No data

Variant related genes	Relation type
PSMD3	TF binding region
ENSG00000108344	chromatin interactions
ENSG00000172057	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528573723	chr17:38140175-38140176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565945927	chr17:38140177-38140178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111304990	chr17:38140179-38140180	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534624898	chr17:38140186-38140187	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533545431	chr17:38140190-38140191	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375483136	chr17:38140195-38140196	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs112118774	chr17:38140215-38140216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528138573	chr17:38140219-38140220	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546387138	chr17:38140223-38140224	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141134167	chr17:38140227-38140228	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11078929	chr17:38140234-38140235	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190395100	chr17:38140235-38140236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112428804	chr17:38140248-38140249	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557502424	chr17:38140252-38140253	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs557018541	chr17:38140253-38140254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371943641	chr17:38140263-38140264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs576566496	chr17:38140269-38140270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs141908043	chr17:38140274-38140275	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145269759	chr17:38140279-38140280	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368541011	chr17:38140280-38140281	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556610016	chr17:38140286-38140287	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576616019	chr17:38140294-38140295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543910288	chr17:38140310-38140311	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147193976	chr17:38140313-38140314	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184501979	chr17:38140322-38140323	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572431328	chr17:38140325-38140326	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572592587	chr17:38140332-38140333	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376511480	chr17:38140359-38140360	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs9905305	chr17:38140385-38140386	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:123)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	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
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38137800-38140400	Weak transcription	Spleen	Spleen
2	chr17:38137800-38140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:38138200-38140400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:38138200-38140600	Weak transcription	Aorta	Aorta
5	chr17:38138400-38140400	Weak transcription	Esophagus	oesophagus
6	chr17:38138400-38140400	Weak transcription	Pancreas	Pancrea
7	chr17:38138400-38140600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:38138400-38140600	Weak transcription	Left Ventricle	heart
9	chr17:38138400-38140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:38138600-38140200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr17:38138600-38140200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:38138600-38140400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:38138600-38140400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:38138600-38140400	Weak transcription	Ovary	ovary
15	chr17:38138600-38140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38138600-38140600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:38138600-38140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:38138600-38140600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:38138600-38140600	Weak transcription	Colonic Mucosa	Colon
20	chr17:38138600-38140600	Weak transcription	Gastric	stomach
21	chr17:38138600-38140600	Weak transcription	Small Intestine	intestine
22	chr17:38138600-38140800	Weak transcription	Fetal Brain Male	brain
23	chr17:38138600-38149200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:38138600-38154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr17:38138800-38140600	Weak transcription	Stomach Mucosa	stomach
26	chr17:38139000-38140200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:38139000-38140400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:38139000-38140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:38139000-38140400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr17:38139000-38140400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr17:38139000-38140600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:38139000-38140600	Weak transcription	Brain Anterior Caudate	brain
33	chr17:38139000-38140600	Weak transcription	Fetal Brain Female	brain
34	chr17:38139000-38140600	Weak transcription	HSMMtube	muscle
35	chr17:38139000-38140600	Weak transcription	NH-A	brain
36	chr17:38139000-38144400	Weak transcription	Fetal Heart	heart
37	chr17:38139200-38140200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:38139200-38140200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr17:38139200-38140400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:38139200-38140400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:38139200-38140400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr17:38139200-38140400	Weak transcription	Colon Smooth Muscle	Colon
43	chr17:38139200-38140400	Weak transcription	Thymus	Thymus
44	chr17:38139200-38140400	Weak transcription	GM12878-XiMat	blood
45	chr17:38139200-38140600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:38139200-38140600	Weak transcription	Primary T cells from cord blood	blood
47	chr17:38139200-38140600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:38139200-38140600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr17:38139200-38140600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:38139200-38140600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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