Variant report

Variant	nsv960581
Chromosome Location	chr17:33827264-33841554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:33836151-33836508	GM12878	blood:	n/a	n/a
2	CBX3	chr17:33834767-33835063	K562	blood:	n/a	n/a
3	CEBPB	chr17:33837625-33837758	K562	blood:	n/a	n/a
4	CTCF	chr17:33833016-33833120	Lung_OC	lung:	n/a	n/a
5	CTCF	chr17:33837553-33837625	GM10248	blood:	n/a	n/a
6	E2F4	chr17:33840240-33840312	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr17:33834895-33834993	K562	blood:	n/a	n/a
8	GATA2	chr17:33834910-33835282	K562	blood:	n/a	n/a
9	KAP1	chr17:33834598-33835249	K562	blood:	n/a	n/a
10	MAFK	chr17:33840037-33840314	HepG2	liver:	n/a	n/a
11	MAFK	chr17:33840099-33840258	IMR90	lung:	n/a	n/a
12	MAFK	chr17:33840121-33840309	HepG2	liver:	n/a	n/a
13	NR2F2	chr17:33834948-33835189	K562	blood:	n/a	n/a
14	POLR2A	chr17:33836906-33837648	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr17:33835287-33835423	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:33835082-33835517	GM12892	blood:	n/a	n/a
17	POLR2A	chr17:33836249-33836683	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr17:33835083-33835388	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:33838603-33838716	A549	lung:	n/a	n/a
20	POLR2A	chr17:33827800-33828471	GM12892	blood:	n/a	n/a
21	RUNX3	chr17:33836072-33836579	GM12878	blood:	n/a	n/a
22	RUNX3	chr17:33836209-33836449	GM12878	blood:	n/a	n/a
23	TAL1	chr17:33827794-33827876	K562	blood:	n/a	n/a
24	TBP	chr17:33840788-33840789	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33836676..33838220-chr17:33863138..33865744,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLFN14-3	chr17:33826709-33827481	ENSG00000267074.1
2	lnc-SLFN14-3	chr17:33837218-33837289	ENSG00000267074.1
3	lnc-SLFN14-3	chr17:33837055-33837058	ENSG00000267074.1

No data

Variant related genes	Relation type
ENSG00000267074	TF binding region
ENSG00000205045	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73281455	chr17:33827284-33827285	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138779102	chr17:33827285-33827286	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141739402	chr17:33827304-33827305	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113840272	chr17:33827337-33827338	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs138857572	chr17:33827425-33827426	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546724304	chr17:33827427-33827428	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566481813	chr17:33827430-33827431	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs538754365	chr17:33827445-33827446	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558590374	chr17:33827475-33827476	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs374042258	chr17:33827481-33827482	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs191098818	chr17:33827489-33827490	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367918732	chr17:33827519-33827520	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575007529	chr17:33827536-33827537	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149380972	chr17:33827555-33827556	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540877874	chr17:33827562-33827563	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144662453	chr17:33827576-33827577	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575140192	chr17:33827593-33827594	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185294942	chr17:33827620-33827621	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576873157	chr17:33827621-33827622	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55810669	chr17:33827657-33827658	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560210397	chr17:33827665-33827666	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112988545	chr17:33827667-33827668	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368675474	chr17:33827720-33827721	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541697341	chr17:33827744-33827745	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35924671	chr17:33827748-33827749	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76052756	chr17:33827749-33827750	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59826933	chr17:33827760-33827761	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397856661	chr17:33827761-33827762	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183592110	chr17:33827781-33827782	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545821620	chr17:33827787-33827788	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561916822	chr17:33827796-33827797	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527594068	chr17:33827799-33827800	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547249090	chr17:33827837-33827838	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78454356	chr17:33827842-33827843	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532341388	chr17:33827865-33827866	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147323536	chr17:33827916-33827917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569041634	chr17:33827945-33827946	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75984683	chr17:33827978-33827979	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376618383	chr17:33827979-33827980	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562506067	chr17:33827988-33827989	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112778724	chr17:33828000-33828001	Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112243653	chr17:33828022-33828023	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113442893	chr17:33828033-33828034	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111877383	chr17:33828037-33828038	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534243758	chr17:33828049-33828050	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554477540	chr17:33828114-33828115	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577591495	chr17:33828115-33828116	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548491185	chr17:33828133-33828134	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12449979	chr17:33828147-33828148	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556188033	chr17:33828178-33828179	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	n/a	n/a	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:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33823000-33830400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:33823400-33828200	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr17:33823400-33835600	Weak transcription	GM12878-XiMat	blood
4	chr17:33823800-33828600	Weak transcription	Pancreas	Pancrea
5	chr17:33824200-33834800	Weak transcription	Spleen	Spleen
6	chr17:33824400-33827600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:33824800-33829000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:33825000-33828800	Strong transcription	Dnd41	blood
9	chr17:33825400-33827600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:33826200-33835000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:33826400-33828800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:33826400-33835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:33826800-33827800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:33826800-33832200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:33827000-33828000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:33827000-33829000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:33827000-33840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:33827200-33828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:33827200-33828000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:33827600-33828000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:33827600-33832400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:33827800-33828200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:33828000-33828200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr17:33828000-33828200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:33828000-33828400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:33828000-33828400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr17:33828000-33828800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr17:33828200-33828400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:33828200-33828400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:33828200-33828600	Weak transcription	Primary T cells from cord blood	blood
31	chr17:33828200-33829000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr17:33828400-33829400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:33828400-33831200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:33828400-33834800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:33828400-33835800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:33828800-33831800	Weak transcription	Dnd41	blood
37	chr17:33828800-33835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:33828800-33836000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr17:33829000-33831600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr17:33829000-33831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:33829000-33836400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:33830400-33834400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:33830600-33834800	Weak transcription	Primary T cells from cord blood	blood
44	chr17:33831200-33831600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:33831600-33832800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr17:33831600-33832800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:33831800-33833600	Strong transcription	Dnd41	blood
48	chr17:33831800-33838400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:33832200-33832800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:33832400-33832800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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