Variant report

Variant	nsv894972
Chromosome Location	chr10:25849998-25917909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:25884680-25884804	K562	blood:	n/a	chr10:25884746-25884757
2	CEBPB	chr10:25849959-25850135	IMR90	lung:	n/a	chr10:25850029-25850040 chr10:25850095-25850106
3	CEBPB	chr10:25906942-25906995	A549	lung:	n/a	n/a
4	CEBPB	chr10:25849977-25850177	HepG2	liver:	n/a	chr10:25850029-25850040 chr10:25850095-25850106
5	CEBPB	chr10:25884671-25884817	A549	lung:	n/a	chr10:25884746-25884757
6	CEBPB	chr10:25849958-25850187	K562	blood:	n/a	chr10:25850029-25850040 chr10:25850095-25850106
7	CEBPB	chr10:25884610-25884764	IMR90	lung:	n/a	chr10:25884746-25884757
8	CEBPB	chr10:25884568-25884839	HepG2	liver:	n/a	chr10:25884746-25884757
9	CEBPB	chr10:25850627-25850827	HepG2	liver:	n/a	chr10:25850752-25850763 chr10:25850754-25850763
10	CEBPB	chr10:25850072-25850079	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr10:25909189-25909223	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:25909203-25909220	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:25885100-25885250	MCF-7	breast:	n/a	chr10:25885136-25885154
14	CTCF	chr10:25912563-25912617	Lung_OC	lung:	n/a	n/a
15	CTCF	chr10:25885180-25885330	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:25871980-25872130	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr10:25903655-25903869	K562	blood:	n/a	n/a
18	CTCF	chr10:25909186-25909238	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:25885000-25885150	A549	lung:	n/a	n/a
20	CTCF	chr10:25903727-25903787	K562	blood:	n/a	n/a
21	CTCF	chr10:25893204-25893321	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr10:25880140-25880290	Caco-2	colon:	n/a	n/a
23	E2F4	chr10:25891100-25891289	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr10:25876999-25877028	K562	blood:	n/a	n/a
25	FOXA1	chr10:25908591-25908916	HepG2	liver:	n/a	n/a
26	KAP1	chr10:25906803-25907470	HEK293	kidney:	n/a	n/a
27	MAFF	chr10:25892546-25892646	HepG2	liver:	n/a	n/a
28	MAFK	chr10:25892420-25892657	HepG2	liver:	n/a	chr10:25892546-25892560 chr10:25892548-25892559 chr10:25892543-25892558 chr10:25892543-25892559
29	MAFK	chr10:25892471-25892694	HepG2	liver:	n/a	chr10:25892546-25892560 chr10:25892548-25892559 chr10:25892543-25892558 chr10:25892543-25892559
30	MAZ	chr10:25894481-25894485	HepG2	liver:	n/a	n/a
31	MXI1	chr10:25853559-25853660	GM12878	blood:	n/a	n/a
32	MYC	chr10:25885292-25885352	MCF-7	breast:	n/a	n/a
33	MYC	chr10:25888201-25888233	MCF10A-Er-Src	breast:	n/a	n/a
34	NFYA	chr10:25893787-25893919	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:25866406-25866588	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr10:25909058-25909060	MCF-7	breast:	n/a	n/a
37	POLR2A	chr10:25889657-25889721	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr10:25884588-25884654	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr10:25860681-25860728	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:25875407-25875492	ProgFib	skin:	n/a	n/a
41	POLR2A	chr10:25889451-25889581	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:25874201-25874353	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr10:25862598-25862747	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr10:25909065-25909191	MCF-7	breast:	n/a	n/a
45	POLR2A	chr10:25893387-25893869	K562	blood:	n/a	n/a
46	POLR2A	chr10:25908700-25908711	Gliobla	brain:	n/a	n/a
47	POLR2A	chr10:25897259-25897362	K562	blood:	n/a	n/a
48	RAD21	chr10:25864248-25864569	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr10:25858373-25858616	H1-hESC	embryonic stem cell:	n/a	chr10:25858535-25858554
50	RAD21	chr10:25850863-25850919	H1-hESC	embryonic stem cell:	n/a	chr10:25850880-25850899

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:25890685-25890735	ECC-1	luminal epithelium:	n/a
2	chr10:25882008-25882058	NHDF-neo	bronchial:	n/a
3	chr10:25890685-25890735	NB4	blood:	n/a
4	chr10:25882008-25882058	LNCaP	prostate:	n/a
5	chr10:25882008-25882058	SK-N-SH	brain:	n/a
6	chr10:25882008-25882058	HAEpiC	amniotic membrane:	n/a
7	chr10:25890685-25890735	GM06990	blood:	n/a
8	chr10:25890685-25890735	SAEC	small airway:	n/a
9	chr10:25882008-25882058	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:25882008-25882058	HCT-116	colon:	n/a
11	chr10:25890685-25890735	CMK	blood:	n/a
12	chr10:25882008-25882058	SK-N-MC	brain:	n/a
13	chr10:25890685-25890735	SKMC	muscle:	n/a
14	chr10:25882008-25882058	GM12892	blood:	n/a
15	chr10:25890685-25890735	HL-60	blood:	n/a
16	chr10:25882008-25882058	HUVEC	blood vessel:	n/a
17	chr10:25890685-25890735	HRE	kidney:	n/a
18	chr10:25882008-25882058	HIPEpiC	eye:	n/a
19	chr10:25890685-25890735	H1-hESC	embryonic stem cell:	embryo
20	chr10:25882008-25882058	HEK293	kidney:	embryo
21	chr10:25882008-25882058	HCM	heart:	n/a
22	chr10:25890685-25890735	HPAEpiC	pulmonary alveolar:	n/a
23	chr10:25882008-25882058	HRCEpiC	kidney:	n/a
24	chr10:25890685-25890735	GM12892	blood:	n/a
25	chr10:25890685-25890735	PrEC	prostate:	n/a
26	chr10:25882008-25882058	MCF10A-Er-Src	breast:	n/a
27	chr10:25890685-25890735	BJ	skin:	n/a
28	chr10:25890685-25890735	HRPEpiC	eye:	n/a
29	chr10:25882008-25882058	NT2-D1	testis:	n/a
30	chr10:25890685-25890735	NHDF-neo	bronchial:	n/a
31	chr10:25882008-25882058	GM06990	blood:	n/a
32	chr10:25890685-25890735	GM12891	blood:	n/a
33	chr10:25882008-25882058	NHBE	bronchial:	n/a
34	chr10:25882008-25882058	H1-hESC	embryonic stem cell:	embryo
35	chr10:25882008-25882058	HepG2	liver:	n/a
36	chr10:25882008-25882058	AoSMC	blood vessel:	n/a
37	chr10:25890685-25890735	MCF10A-Er-Src	breast:	n/a
38	chr10:25890685-25890735	PANC-1	pancreas:	n/a
39	chr10:25882008-25882058	Jurkat	blood:	n/a
40	chr10:25882008-25882058	HCF	heart:	n/a
41	chr10:25882008-25882058	ProgFib	skin:	n/a
42	chr10:25890685-25890735	AG09309	skin:	n/a
43	chr10:25890685-25890735	HCT-116	colon:	n/a
44	chr10:25882008-25882058	NB4	blood:	n/a
45	chr10:25890685-25890735	BE2_C	brain:	n/a
46	chr10:25882008-25882058	ovcar-3	ovarian:	n/a
47	chr10:25890685-25890735	AoSMC	blood vessel:	n/a
48	chr10:25882008-25882058	BE2_C	brain:	n/a
49	chr10:25890685-25890735	A549	lung:	n/a
50	chr10:25882008-25882058	AG09309	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:25882800..25884946-chr10:25886088..25888172,2	K562	blood:
2	chr10:25853863..25855437-chr10:25858792..25860458,2	K562	blood:
3	chr10:25867129..25868995-chr10:25875572..25877987,2	K562	blood:
4	chr10:25823065..25825573-chr10:25861893..25863444,2	K562	blood:
5	chr10:25853863..25855437-chr10:25858792..25860458,2	K562	blood:
6	chr10:25867129..25868995-chr10:25875572..25877987,2	K562	blood:
7	chr10:25892005..25894948-chr10:25981825..25984468,2	MCF-7	breast:
8	chr10:25843047..25844904-chr10:25848062..25851001,2	K562	blood:

No data

Variant related genes	Relation type
GPR158	TF binding region
GPR158	CpG island
ENSG00000151025	chromatin interactions

Extended variants
information (count: 2052 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2052 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7915074	chr10:25849998-25849999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553862115	chr10:25850077-25850078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576850578	chr10:25850111-25850112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369790153	chr10:25850118-25850119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145438440	chr10:25850243-25850244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116525820	chr10:25850443-25850444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10764560	chr10:25850525-25850526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147705592	chr10:25850530-25850531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561638233	chr10:25850547-25850548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527529284	chr10:25850558-25850559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142436682	chr10:25850569-25850570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186845424	chr10:25850594-25850595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148655178	chr10:25850613-25850614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201606081	chr10:25850614-25850615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67606212	chr10:25850646-25850647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372797525	chr10:25850650-25850651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532472835	chr10:25850656-25850657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576058904	chr10:25850687-25850688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115810472	chr10:25850694-25850695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569117777	chr10:25850719-25850720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76583237	chr10:25850720-25850721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76025470	chr10:25850752-25850753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371140813	chr10:25850753-25850754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191862098	chr10:25850792-25850793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541466290	chr10:25850801-25850802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532748340	chr10:25850803-25850804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568375384	chr10:25850810-25850811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142255149	chr10:25850814-25850815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182165219	chr10:25850880-25850881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187997425	chr10:25850884-25850885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9645526	chr10:25850912-25850913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575672620	chr10:25850925-25850926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370959891	chr10:25850953-25850954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34320289	chr10:25850954-25850955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397754564	chr10:25850971-25850972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373732915	chr10:25850972-25850973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193056361	chr10:25851067-25851068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185571197	chr10:25851171-25851172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560617279	chr10:25851198-25851199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190447797	chr10:25851211-25851212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375431630	chr10:25851278-25851279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11014608	chr10:25851288-25851289	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs151253991	chr10:25851290-25851291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552551049	chr10:25851372-25851373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564080934	chr10:25851393-25851394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532648514	chr10:25851461-25851462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140592778	chr10:25851467-25851468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193029734	chr10:25851492-25851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150492453	chr10:25851520-25851521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72788296	chr10:25851525-25851526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21525872	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25847200-25861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr10:25850200-25851200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:25850400-25851000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:25850400-25851400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:25850600-25850800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr10:25850600-25851000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:25850600-25851200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:25850800-25853400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:25851000-25854400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:25851200-25854400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:25851200-25854400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:25851400-25853400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:25851600-25851800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
14	chr10:25853000-25853400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:25853400-25853600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr10:25853400-25853800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:25853400-25855400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:25853600-25854400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:25853800-25854800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:25854000-25854400	Enhancers	Fetal Stomach	stomach
21	chr10:25854200-25854800	Enhancers	K562	blood
22	chr10:25854400-25854600	Weak transcription	Fetal Stomach	stomach
23	chr10:25854400-25855000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:25854400-25855000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:25854400-25855000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:25854400-25855200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:25854600-25855000	Enhancers	Fetal Stomach	stomach
28	chr10:25854600-25855200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:25861200-25861600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:25861600-25873800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:25873800-25875000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr10:25875000-25876200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr10:25876200-25876800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:25876200-25877000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:25876800-25884800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:25879600-25886800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:25884800-25892200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:25886800-25888200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:25887600-25889000	Weak transcription	Brain Anterior Caudate	brain
40	chr10:25888200-25892800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:25889600-25890000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:25891200-25894000	Enhancers	Fetal Kidney	kidney
43	chr10:25891800-25892000	Enhancers	Brain Anterior Caudate	brain
44	chr10:25892200-25893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:25893400-25893800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:25893800-25894200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:25894000-25894800	Weak transcription	Fetal Kidney	kidney
48	chr10:25894800-25895000	Enhancers	Fetal Kidney	kidney
49	chr10:25904600-25906000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:25904800-25905200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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