Variant report

Variant	esv15823
Chromosome Location	chr17:43496222-43497302
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	POLR2A	chr17:43497094-43497278	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:43495646..43497991-chr17:43500859..43504115,3	MCF-7	breast:
2	chr17:43495851..43498842-chr17:43501436..43503163,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264038	TF binding region
ENSG00000159314	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145795469	chr17:43496237-43496238	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115064341	chr17:43496278-43496279	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148983451	chr17:43496383-43496384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567049023	chr17:43496397-43496398	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573593279	chr17:43496402-43496403	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190020652	chr17:43496408-43496409	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377564972	chr17:43496453-43496454	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372737910	chr17:43496457-43496458	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56378631	chr17:43496465-43496466	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs369511573	chr17:43496472-43496473	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567874975	chr17:43496490-43496491	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375484702	chr17:43496503-43496504	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74905440	chr17:43496504-43496505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546238051	chr17:43496588-43496589	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577692585	chr17:43496602-43496603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544807612	chr17:43496670-43496671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568065640	chr17:43496770-43496771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12946723	chr17:43496828-43496829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs556619769	chr17:43496858-43496859	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376722095	chr17:43496879-43496880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374575047	chr17:43496898-43496899	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576471461	chr17:43496908-43496909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34957716	chr17:43496999-43497000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs113452727	chr17:43497001-43497002	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542643035	chr17:43497012-43497013	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562372061	chr17:43497033-43497034	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180815130	chr17:43497057-43497058	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529572515	chr17:43497097-43497098	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186114165	chr17:43497112-43497113	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs114067481	chr17:43497134-43497135	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557073301	chr17:43497154-43497155	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533548716	chr17:43497171-43497172	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372727638	chr17:43497198-43497199	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12952764	chr17:43497210-43497211	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs566946664	chr17:43497223-43497224	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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	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
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43482400-43501600	Weak transcription	HMEC	breast
2	chr17:43484400-43502600	Weak transcription	Fetal Lung	lung
3	chr17:43484600-43502200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:43487400-43501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:43487600-43496400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:43488600-43501400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:43488800-43505400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:43489600-43505400	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:43490000-43501400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:43490200-43503000	Weak transcription	Adipose Nuclei	Adipose
11	chr17:43490200-43505600	Weak transcription	Thymus	Thymus
12	chr17:43490600-43501800	Weak transcription	Small Intestine	intestine
13	chr17:43491800-43500000	Weak transcription	HepG2	liver
14	chr17:43492000-43501400	Weak transcription	Placenta	Placenta
15	chr17:43492800-43498200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr17:43492800-43501200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:43493000-43501600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:43493200-43499600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:43493200-43500800	Weak transcription	A549	lung
20	chr17:43493200-43503800	Weak transcription	Spleen	Spleen
21	chr17:43493400-43501200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:43495800-43496400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:43495800-43496400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:43495800-43496400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr17:43495800-43496400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr17:43495800-43496600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:43495800-43496600	Genic enhancers	Fetal Intestine Small	intestine
28	chr17:43495800-43496600	Enhancers	Right Ventricle	heart
29	chr17:43495800-43496600	Enhancers	Stomach Mucosa	stomach
30	chr17:43495800-43501800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr17:43496000-43496400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:43496000-43496400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:43496000-43496400	Enhancers	Colonic Mucosa	Colon
34	chr17:43496000-43496400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr17:43496000-43496400	Enhancers	Gastric	stomach
36	chr17:43496000-43496400	Enhancers	Lung	lung
37	chr17:43496000-43496400	Enhancers	Hela-S3	cervix
38	chr17:43496000-43496400	Enhancers	NHEK	skin
39	chr17:43496000-43496600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:43496000-43496600	Genic enhancers	Fetal Intestine Large	intestine
41	chr17:43496000-43496600	Enhancers	Left Ventricle	heart
42	chr17:43496000-43496600	Enhancers	Right Atrium	heart
43	chr17:43496000-43496600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr17:43496200-43496400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:43496200-43496400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr17:43496200-43496600	Enhancers	Esophagus	oesophagus
47	chr17:43496400-43496600	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr17:43496400-43497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:43496400-43497200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr17:43496400-43498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links