Variant report

Variant	nsv978414
Chromosome Location	chr17:33817908-33822518
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	CEBPB	chr17:33817969-33818120	A549	lung:	n/a	chr17:33817994-33818007 chr17:33817996-33818007
2	CEBPB	chr17:33817872-33818150	K562	blood:	n/a	chr17:33817994-33818007 chr17:33817996-33818007
3	CEBPB	chr17:33817826-33818190	H1-hESC	embryonic stem cell:	n/a	chr17:33817994-33818007 chr17:33817996-33818007
4	CEBPB	chr17:33817906-33818125	IMR90	lung:	n/a	chr17:33817994-33818007 chr17:33817996-33818007
5	CTCF	chr17:33818060-33818210	GM12873	blood:	n/a	chr17:33818081-33818089
6	CTCF	chr17:33818153-33818178	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr17:33818108-33818213	GM10266	blood:	n/a	n/a
8	CTCF	chr17:33818911-33819011	Spleen_OC	spleen:	n/a	n/a
9	EGR1	chr17:33819988-33820247	K562	blood:	n/a	chr17:33820118-33820127 chr17:33820117-33820128 chr17:33820116-33820129 chr17:33820115-33820130 chr17:33820119-33820128 chr17:33820112-33820134 chr17:33820118-33820128 chr17:33820117-33820128 chr17:33820116-33820130 chr17:33820116-33820129 chr17:33820118-33820128
10	EGR1	chr17:33819997-33820449	H1-hESC	embryonic stem cell:	n/a	chr17:33820118-33820127 chr17:33820117-33820128 chr17:33820116-33820129 chr17:33820115-33820130 chr17:33820119-33820128 chr17:33820112-33820134 chr17:33820118-33820128 chr17:33820258-33820271 chr17:33820117-33820128 chr17:33820116-33820130 chr17:33820116-33820129 chr17:33820118-33820128
11	EGR1	chr17:33819987-33820206	K562	blood:	n/a	chr17:33820118-33820127 chr17:33820117-33820128 chr17:33820116-33820129 chr17:33820115-33820130 chr17:33820119-33820128 chr17:33820112-33820134 chr17:33820118-33820128 chr17:33820117-33820128 chr17:33820116-33820130 chr17:33820116-33820129 chr17:33820118-33820128
12	EGR1	chr17:33820005-33820492	H1-hESC	embryonic stem cell:	n/a	chr17:33820118-33820127 chr17:33820117-33820128 chr17:33820116-33820129 chr17:33820115-33820130 chr17:33820119-33820128 chr17:33820112-33820134 chr17:33820118-33820128 chr17:33820258-33820271 chr17:33820117-33820128 chr17:33820116-33820130 chr17:33820116-33820129 chr17:33820118-33820128
13	FOSL1	chr17:33820104-33820421	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:33820309-33820311	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:33819336-33819351	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:33819574-33819864	K562	blood:	n/a	n/a
17	POLR2A	chr17:33819393-33819480	GM12878	blood:	n/a	n/a
18	RUNX3	chr17:33819881-33820260	GM12878	blood:	n/a	chr17:33820009-33820026
19	RUNX3	chr17:33819862-33820223	GM12878	blood:	n/a	chr17:33820009-33820026
20	SP1	chr17:33820023-33820438	H1-hESC	embryonic stem cell:	n/a	chr17:33820259-33820273 chr17:33820262-33820273 chr17:33820194-33820205 chr17:33820265-33820279
21	SP1	chr17:33819948-33820483	H1-hESC	embryonic stem cell:	n/a	chr17:33820259-33820273 chr17:33820262-33820273 chr17:33820194-33820205 chr17:33820265-33820279
22	STAT3	chr17:33820418-33820681	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr17:33820123-33820400	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr17:33820080-33820371	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr17:33820131-33820384	H1-hESC	embryonic stem cell:	n/a	n/a
26	YY1	chr17:33819952-33820355	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr17:33820091-33820436	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SLFN12L	TF binding region
ENSG00000267369	TF binding region

Extended variants
information (count: 199 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112016379	chr17:33817942-33817943	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540701692	chr17:33817967-33817968	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557721848	chr17:33817995-33817996	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577707708	chr17:33818014-33818015	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543502314	chr17:33818019-33818020	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143559744	chr17:33818024-33818025	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192506417	chr17:33818026-33818027	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs147131027	chr17:33818030-33818031	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113735670	chr17:33818037-33818038	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559193575	chr17:33818062-33818063	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544499980	chr17:33818089-33818090	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528365728	chr17:33818091-33818092	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs17631940	chr17:33818130-33818131	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
14	rs570814177	chr17:33818167-33818168	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs28446362	chr17:33818188-33818189	Bivalent Enhancer Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183124989	chr17:33818227-33818228	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138680827	chr17:33818253-33818254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371987709	chr17:33818300-33818301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76242111	chr17:33818305-33818306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114096921	chr17:33818312-33818313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370016527	chr17:33818325-33818326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566281768	chr17:33818371-33818372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187459343	chr17:33818405-33818406	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557517255	chr17:33818421-33818422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577520864	chr17:33818466-33818467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55995768	chr17:33818486-33818487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191827146	chr17:33818490-33818491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556606086	chr17:33818523-33818524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184758736	chr17:33818554-33818555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189198316	chr17:33818625-33818626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559105687	chr17:33818641-33818642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528414874	chr17:33818672-33818673	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550251802	chr17:33818705-33818706	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545283119	chr17:33818746-33818747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564324787	chr17:33818759-33818760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192573825	chr17:33818761-33818762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550311506	chr17:33818762-33818763	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142844254	chr17:33818770-33818771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566968472	chr17:33818772-33818773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549641785	chr17:33818792-33818793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537688033	chr17:33818809-33818810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367968004	chr17:33818876-33818877	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536222207	chr17:33818909-33818910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566261753	chr17:33818934-33818935	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535011573	chr17:33818944-33818945	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113826653	chr17:33818951-33818952	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184319612	chr17:33818998-33818999	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148492882	chr17:33818999-33819000	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs190830069	chr17:33819001-33819002	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111463311	chr17:33819007-33819008	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	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
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33812800-33820400	Strong transcription	Dnd41	blood
2	chr17:33815000-33820000	Weak transcription	Gastric	stomach
3	chr17:33815800-33826000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:33816000-33826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:33816200-33820000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:33816400-33820600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr17:33816400-33821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:33816600-33818000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:33816600-33818200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:33816600-33818600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:33816600-33819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:33816800-33820000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:33817000-33819400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:33817000-33819600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:33817200-33818000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr17:33817400-33818200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr17:33817600-33820000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr17:33817800-33818200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:33818000-33818200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr17:33818000-33819800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:33818400-33820000	Weak transcription	GM12878-XiMat	blood
22	chr17:33818600-33819600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:33819200-33819400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr17:33819200-33819400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:33819200-33819600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:33819200-33819600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr17:33819400-33819600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr17:33819400-33819600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:33819400-33819800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:33819400-33820400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr17:33819600-33819800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr17:33819600-33820000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:33819600-33821600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:33819800-33820800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr17:33819800-33821600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:33819800-33822600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr17:33819800-33823000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:33820000-33820200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr17:33820000-33820200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr17:33820000-33820200	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr17:33820000-33820200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr17:33820000-33820200	Enhancers	Gastric	stomach
43	chr17:33820000-33820400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr17:33820000-33820400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:33820000-33820400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr17:33820000-33820600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr17:33820000-33823400	Enhancers	GM12878-XiMat	blood
48	chr17:33820200-33820400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:33820200-33820400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:33820200-33820400	Bivalent Enhancer	Colonic Mucosa	Colon

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