Variant report

Variant	nsv978391
Chromosome Location	chr17:20810355-20811211
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	BCL3	chr17:20810255-20812637	K562	blood:	n/a	chr17:20811749-20811762
2	BCL3	chr17:20810363-20810787	K562	blood:	n/a	n/a
3	CCNT2	chr17:20811162-20811370	K562	blood:	n/a	n/a
4	CEBPB	chr17:20811147-20811515	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr17:20811147-20811376	Hela-S3	cervix:	n/a	n/a
6	GATA2	chr17:20811097-20812216	SH-SY5Y	brain:	n/a	chr17:20811285-20811295 chr17:20811286-20811295
7	GATA3	chr17:20811198-20811471	SH-SY5Y	brain:	n/a	chr17:20811285-20811293 chr17:20811285-20811295 chr17:20811286-20811295
8	GATA3	chr17:20811118-20811511	MCF-7	breast:	n/a	chr17:20811285-20811293 chr17:20811285-20811295 chr17:20811286-20811295
9	GATA3	chr17:20811118-20811437	SK-N-SH	brain:	n/a	chr17:20811285-20811293 chr17:20811285-20811295 chr17:20811286-20811295
10	GATA3	chr17:20811127-20811416	MCF-7	breast:	n/a	chr17:20811285-20811293 chr17:20811285-20811295 chr17:20811286-20811295
11	GTF2F1	chr17:20811161-20812499	Hela-S3	cervix:	n/a	chr17:20811729-20811740
12	HMGN3	chr17:20811069-20811268	K562	blood:	n/a	n/a
13	JUND	chr17:20811192-20811307	K562	blood:	n/a	n/a
14	MAX	chr17:20811116-20812287	Hela-S3	cervix:	n/a	chr17:20811979-20811988 chr17:20811975-20811985
15	MAX	chr17:20811197-20812218	K562	blood:	n/a	chr17:20811979-20811988 chr17:20811975-20811985
16	MAX	chr17:20811105-20812499	Hela-S3	cervix:	n/a	chr17:20811979-20811988 chr17:20811975-20811985
17	MAX	chr17:20811118-20811390	K562	blood:	n/a	n/a
18	MAZ	chr17:20811137-20812371	Hela-S3	cervix:	n/a	chr17:20811979-20811988 chr17:20811975-20811985
19	MAZ	chr17:20811209-20811339	K562	blood:	n/a	n/a
20	MXI1	chr17:20811098-20811406	Hela-S3	cervix:	n/a	n/a
21	MXI1	chr17:20811185-20812771	SK-N-SH	brain:	n/a	n/a
22	MYC	chr17:20811124-20812301	K562	blood:	n/a	chr17:20811979-20811988 chr17:20811975-20811985
23	MYC	chr17:20810579-20810607	NB4	blood:	n/a	n/a
24	POLR2A	chr17:20811112-20811292	Gliobla	brain:	n/a	n/a
25	POLR2A	chr17:20811109-20811308	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:20811067-20812542	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr17:20810570-20810790	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:20811111-20812284	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr17:20810275-20815715	K562	blood:	n/a	n/a
30	POLR2A	chr17:20811193-20811200	MCF-7	breast:	n/a	n/a
31	POLR2A	chr17:20810602-20810769	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr17:20811088-20811387	K562	blood:	n/a	n/a
33	POLR2A	chr17:20811202-20811210	MCF-7	breast:	n/a	n/a
34	POLR2A	chr17:20810663-20810728	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr17:20811028-20811455	K562	blood:	n/a	n/a
36	POLR2A	chr17:20811174-20812521	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr17:20811162-20812477	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr17:20811204-20811395	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:20811113-20811320	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr17:20810257-20810794	HepG2	liver:	n/a	n/a
41	POLR2A	chr17:20811127-20811531	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr17:20811174-20812103	K562	blood:	n/a	n/a
43	RCOR1	chr17:20811126-20812504	Hela-S3	cervix:	n/a	n/a
44	RFX5	chr17:20811132-20812641	Hela-S3	cervix:	n/a	n/a
45	SMARCB1	chr17:20811088-20812251	Hela-S3	cervix:	n/a	n/a
46	SMARCC1	chr17:20811096-20812358	Hela-S3	cervix:	n/a	n/a
47	SMC3	chr17:20811107-20812519	Hela-S3	cervix:	n/a	chr17:20811792-20811806
48	TAL1	chr17:20811179-20811188	K562	blood:	n/a	n/a
49	TBP	chr17:20811199-20812599	Hela-S3	cervix:	n/a	chr17:20811729-20811740
50	TCF7L2	chr17:20811015-20812301	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RNASEH1P1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61367851	chr17:20810359-20810360	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559957134	chr17:20810394-20810395	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527305325	chr17:20810474-20810475	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79610285	chr17:20810479-20810480	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563905375	chr17:20810492-20810493	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531467862	chr17:20810501-20810502	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs75189334	chr17:20810533-20810534	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28774668	chr17:20810541-20810542	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4985933	chr17:20810581-20810582	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373794243	chr17:20810611-20810612	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542062110	chr17:20810618-20810619	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs11653586	chr17:20810647-20810648	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs146607933	chr17:20810678-20810679	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374245435	chr17:20810681-20810682	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562140615	chr17:20810711-20810712	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75432328	chr17:20810718-20810719	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527982534	chr17:20810759-20810760	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547649468	chr17:20810833-20810834	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75301415	chr17:20810852-20810853	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199913331	chr17:20810910-20810911	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576352148	chr17:20810933-20810934	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112617920	chr17:20810941-20810942	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537198295	chr17:20811010-20811011	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs28528071	chr17:20811017-20811018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573906560	chr17:20811020-20811021	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs111437626	chr17:20811048-20811049	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559818300	chr17:20811051-20811052	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs578219467	chr17:20811077-20811078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs545360515	chr17:20811082-20811083	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs112226577	chr17:20811093-20811094	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34513794	chr17:20811145-20811146	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371403336	chr17:20811150-20811151	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs111681316	chr17:20811183-20811184	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549906277	chr17:20811185-20811186	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20798200-20811600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:20800200-20811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:20801800-20812200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:20803200-20811400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr17:20803400-20811200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:20803400-20811400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:20804200-20811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:20806200-20811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:20806200-20811400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:20807200-20811400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:20810000-20812800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:20810200-20812600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:20810400-20811200	Enhancers	K562	blood
14	chr17:20810600-20810800	Enhancers	Hela-S3	cervix
15	chr17:20810800-20811200	Enhancers	Rectal Smooth Muscle	rectum
16	chr17:20810800-20811200	Flanking Active TSS	Hela-S3	cervix
17	chr17:20811000-20811200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:20811000-20811200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:20811000-20811200	Enhancers	Pancreas	Pancrea
20	chr17:20811000-20811400	Enhancers	Colon Smooth Muscle	Colon
21	chr17:20811000-20811600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:20811000-20811800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:20811000-20811800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:20811000-20811800	Enhancers	Esophagus	oesophagus
25	chr17:20811200-20811400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:20811200-20811400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:20811200-20811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:20811200-20811400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:20811200-20811400	Enhancers	Brain Germinal Matrix	brain
30	chr17:20811200-20811400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr17:20811200-20811400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr17:20811200-20811400	Enhancers	Fetal Intestine Small	intestine
33	chr17:20811200-20811400	Enhancers	Fetal Muscle Trunk	muscle
34	chr17:20811200-20811400	Flanking Active TSS	Pancreas	Pancrea
35	chr17:20811200-20811400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr17:20811200-20811400	Enhancers	Right Ventricle	heart
37	chr17:20811200-20811400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr17:20811200-20811400	Enhancers	NHEK	skin
39	chr17:20811200-20811600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr17:20811200-20811600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:20811200-20811600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr17:20811200-20811600	Enhancers	Liver	Liver
43	chr17:20811200-20811600	Active TSS	Duodenum Mucosa	Duodenum
44	chr17:20811200-20811600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:20811200-20811600	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr17:20811200-20811600	Enhancers	Fetal Muscle Leg	muscle
47	chr17:20811200-20811600	Enhancers	Placenta	Placenta
48	chr17:20811200-20811600	Enhancers	Left Ventricle	heart
49	chr17:20811200-20811600	Enhancers	Ovary	ovary
50	chr17:20811200-20811600	Enhancers	Placenta Amnion	Placenta Amnion

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