Variant report

Variant	nsv1043456
Chromosome Location	chr10:27225904-27246821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:488)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:27241137-27241377	GM12878	blood:	n/a	n/a
2	BATF	chr10:27239863-27240179	GM12878	blood:	n/a	n/a
3	BATF	chr10:27241130-27241326	GM12878	blood:	n/a	n/a
4	BATF	chr10:27239867-27240123	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:27239855-27240184	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:27239962-27240121	GM12878	blood:	n/a	n/a
7	CEBPB	chr10:27226988-27227113	A549	lung:	n/a	n/a
8	CHD1	chr10:27228380-27228580	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
10	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
11	CTCF	chr10:27241129-27241231	MCF-7	breast:	n/a	n/a
12	CTCF	chr10:27241040-27241190	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:27241139-27241260	Gliobla	brain:	n/a	n/a
15	CTCF	chr10:27241040-27241190	GM12873	blood:	n/a	n/a
16	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
17	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
18	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
19	CTCF	chr10:27230470-27230550	NHEK	skin:	n/a	n/a
20	CTCF	chr10:27241126-27241241	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:27244592-27244641	LNCaP	prostate:	n/a	n/a
22	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
23	CTCF	chr10:27232950-27233007	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
25	CTCF	chr10:27241138-27241223	MCF-7	breast:	n/a	n/a
26	CTCF	chr10:27241136-27241211	GM19239	blood:	n/a	n/a
27	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
29	CTCF	chr10:27242248-27242304	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:27232892-27233042	HepG2	liver:	n/a	n/a
32	CTCF	chr10:27241132-27241219	MCF-7	breast:	n/a	n/a
33	CTCF	chr10:27241134-27241212	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
35	CTCF	chr10:27230432-27230583	MCF-7	breast:	n/a	n/a
36	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
37	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
38	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
39	EGR1	chr10:27232957-27233228	K562	blood:	n/a	n/a
40	EP300	chr10:27239956-27240156	GM12878	blood:	n/a	n/a
41	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA3	chr10:27234952-27235275	T-47D	breast:	n/a	n/a
44	GATA3	chr10:27234942-27235259	MCF-7	breast:	n/a	n/a
45	IRF4	chr10:27239800-27240254	GM12878	blood:	n/a	n/a
46	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
48	KAP1	chr10:27239554-27239796	K562	blood:	n/a	n/a
49	MAX	chr10:27235246-27235700	K562	blood:	n/a	n/a
50	MAX	chr10:27235551-27235811	K562	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27235627-27235677	IMR90	lung:	fetal
2	chr10:27232252-27232302	U87	brain:	n/a
3	chr10:27235627-27235677	HNPCEpiC	eye:	n/a
4	chr10:27230738-27230788	K562	blood:	n/a
5	chr10:27231882-27231932	AG04450	lung:	fetal
6	chr10:27230955-27231005	ovcar-3	ovarian:	n/a
7	chr10:27230955-27231005	HCM	heart:	n/a
8	chr10:27231223-27231273	MCF-7	breast:	n/a
9	chr10:27235514-27235564	IMR90	lung:	fetal
10	chr10:27235627-27235677	GM12878	blood:	n/a
11	chr10:27230955-27231005	GM12878	blood:	n/a
12	chr10:27230955-27231005	SAEC	small airway:	n/a
13	chr10:27230955-27231005	LNCaP	prostate:	n/a
14	chr10:27235514-27235564	AG04449	skin:	fetal
15	chr10:27231882-27231932	ProgFib	skin:	n/a
16	chr10:27231223-27231273	HL-60	blood:	n/a
17	chr10:27232252-27232302	BJ	skin:	n/a
18	chr10:27231223-27231273	AG09309	skin:	n/a
19	chr10:27230738-27230788	HRCEpiC	kidney:	n/a
20	chr10:27235627-27235677	Caco-2	colon:	n/a
21	chr10:27231882-27231932	NB4	blood:	n/a
22	chr10:27235598-27235648	SK-N-SH	brain:	n/a
23	chr10:27235598-27235648	HCT-116	colon:	n/a
24	chr10:27231882-27231932	HCM	heart:	n/a
25	chr10:27235598-27235648	AG09309	skin:	n/a
26	chr10:27235627-27235677	A549	lung:	n/a
27	chr10:27235627-27235677	AG10803	skin:	n/a
28	chr10:27231223-27231273	Hepatocyte	liver:	n/a
29	chr10:27231882-27231932	A549	lung:	n/a
30	chr10:27235514-27235564	AG09319	gingival:	n/a
31	chr10:27235627-27235677	SK-N-MC	brain:	n/a
32	chr10:27230738-27230788	BE2_C	brain:	n/a
33	chr10:27230738-27230788	AG04449	skin:	fetal
34	chr10:27230955-27231005	PANC-1	pancreas:	n/a
35	chr10:27235598-27235648	CMK	blood:	n/a
36	chr10:27231882-27231932	SAEC	small airway:	n/a
37	chr10:27230955-27231005	HNPCEpiC	eye:	n/a
38	chr10:27231882-27231932	HCF	heart:	n/a
39	chr10:27231882-27231932	MCF-7	breast:	n/a
40	chr10:27231882-27231932	HIPEpiC	eye:	n/a
41	chr10:27232252-27232302	HRE	kidney:	n/a
42	chr10:27230955-27231005	HIPEpiC	eye:	n/a
43	chr10:27235514-27235564	H1-hESC	embryonic stem cell:	embryo
44	chr10:27235627-27235677	HCT-116	colon:	n/a
45	chr10:27231882-27231932	HPAEpiC	pulmonary alveolar:	n/a
46	chr10:27235627-27235677	AG09319	gingival:	n/a
47	chr10:27232252-27232302	BE2_C	brain:	n/a
48	chr10:27230955-27231005	NHBE	bronchial:	n/a
49	chr10:27231882-27231932	GM06990	blood:	n/a
50	chr10:27235598-27235648	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:
2	chr10:27228167..27230462-chr10:27233630..27235621,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00202-1	TF binding region
LINC00614	TF binding region
LINC00202-1	CpG island
LINC00614	CpG island

Extended variants
information (count: 1014 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1014 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12219637	chr10:27225904-27225905	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74126891	chr10:27225955-27225956	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560691451	chr10:27225967-27225968	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376583884	chr10:27225980-27225981	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4749199	chr10:27225991-27225992	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs546218701	chr10:27225993-27225994	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183112158	chr10:27225998-27225999	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113860286	chr10:27226005-27226006	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144413217	chr10:27226083-27226084	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571708775	chr10:27226102-27226103	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187355202	chr10:27226117-27226118	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540906853	chr10:27226119-27226120	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11015395	chr10:27226142-27226143	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs572818673	chr10:27226143-27226144	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs146593205	chr10:27226160-27226161	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536630997	chr10:27226161-27226162	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553056207	chr10:27226171-27226172	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544770330	chr10:27226172-27226173	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs373709453	chr10:27226182-27226183	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558826043	chr10:27226237-27226238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575089363	chr10:27226268-27226269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561450478	chr10:27226302-27226303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4749200	chr10:27226305-27226306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555612969	chr10:27226354-27226355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140313605	chr10:27226361-27226362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141545333	chr10:27226381-27226382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386742195	chr10:27226382-27226383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191813192	chr10:27226383-27226384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11015396	chr10:27226407-27226408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs532142369	chr10:27226430-27226431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545366989	chr10:27226431-27226432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184313089	chr10:27226445-27226446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188247187	chr10:27226466-27226467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551228515	chr10:27226482-27226483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77564328	chr10:27226489-27226490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76470502	chr10:27226491-27226492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567873500	chr10:27226496-27226497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144037721	chr10:27226502-27226503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547076456	chr10:27226561-27226562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115947810	chr10:27226568-27226569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4749201	chr10:27226569-27226570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201296437	chr10:27226606-27226607	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558571149	chr10:27226614-27226615	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527673311	chr10:27226618-27226619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111493396	chr10:27226655-27226656	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs376435002	chr10:27226684-27226685	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367839768	chr10:27226715-27226716	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs374221320	chr10:27226758-27226759	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368120198	chr10:27226759-27226760	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374123423	chr10:27226761-27226762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:27220800-27235200	Weak transcription	Gastric	stomach
5	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
7	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
9	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
11	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
13	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
19	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:27229000-27229200	Enhancers	Fetal Muscle Leg	muscle
23	chr10:27229000-27230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:27229200-27230000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:27229200-27239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:27230000-27230400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:27230000-27230400	Enhancers	Fetal Muscle Trunk	muscle
28	chr10:27230200-27230400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr10:27230200-27230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:27230200-27230600	ZNF genes & repeats	Pancreas	Pancrea
31	chr10:27230200-27232000	Weak transcription	Spleen	Spleen
32	chr10:27230600-27235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:27230600-27235000	Weak transcription	Pancreas	Pancrea
34	chr10:27233000-27233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:27234200-27234400	Enhancers	NHEK	skin
36	chr10:27234200-27235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:27234400-27235600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr10:27234400-27235800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:27234400-27236000	Flanking Active TSS	NHEK	skin
40	chr10:27234800-27235800	Enhancers	HMEC	breast
41	chr10:27235000-27235200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr10:27235000-27235200	Enhancers	Esophagus	oesophagus
43	chr10:27235000-27235200	Active TSS	Fetal Brain Female	brain
44	chr10:27235000-27235200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr10:27235000-27235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:27235000-27235600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:27235000-27235600	Active TSS	Brain Anterior Caudate	brain
48	chr10:27235000-27235600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr10:27235000-27235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:27235000-27235600	Active TSS	Duodenum Mucosa	Duodenum

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