Variant report

Variant	esv2750888
Chromosome Location	chr10:27225647-27241780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:490)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:27239867-27240123	GM12878	blood:	n/a	n/a
2	BATF	chr10:27241137-27241377	GM12878	blood:	n/a	n/a
3	BATF	chr10:27239863-27240179	GM12878	blood:	n/a	n/a
4	BATF	chr10:27241130-27241326	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	chr10:27241126-27241241	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:27241129-27241231	MCF-7	breast:	n/a	n/a
11	CTCF	chr10:27232892-27233042	HepG2	liver:	n/a	n/a
12	CTCF	chr10:27241132-27241219	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:27241136-27241211	GM19239	blood:	n/a	n/a
14	CTCF	chr10:27226065-27226184	MCF-7	breast:	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	chr10:27241134-27241212	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
19	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
20	CTCF	chr10:27241138-27241223	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
22	CTCF	chr10:27230470-27230550	NHEK	skin:	n/a	n/a
23	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
24	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
25	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
26	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
27	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
28	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
29	CTCF	chr10:27232950-27233007	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr10:27241139-27241260	Gliobla	brain:	n/a	n/a
31	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
32	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
33	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
34	CTCF	chr10:27230432-27230583	MCF-7	breast:	n/a	n/a
35	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
36	CTCF	chr10:27241040-27241190	MCF-7	breast:	n/a	n/a
37	EGR1	chr10:27232957-27233228	K562	blood:	n/a	n/a
38	EP300	chr10:27239956-27240156	GM12878	blood:	n/a	n/a
39	FOS	chr10:27227605-27227742	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:27227608-27227901	MCF10A-Er-Src	breast:	n/a	n/a
41	GATA3	chr10:27234942-27235259	MCF-7	breast:	n/a	n/a
42	GATA3	chr10:27234952-27235275	T-47D	breast:	n/a	n/a
43	IRF4	chr10:27239800-27240254	GM12878	blood:	n/a	n/a
44	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
46	KAP1	chr10:27239554-27239796	K562	blood:	n/a	n/a
47	MAX	chr10:27235551-27235811	K562	blood:	n/a	n/a
48	MAX	chr10:27235246-27235700	K562	blood:	n/a	n/a
49	MXI1	chr10:27240011-27240177	GM12878	blood:	n/a	n/a
50	MYC	chr10:27234992-27235112	MCF-7	breast:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27235514-27235564	HUVEC	blood vessel:	n/a
2	chr10:27231882-27231932	RPTEC	kidney:	n/a
3	chr10:27235514-27235564	HUVEC	blood vessel:	n/a
4	chr10:27231882-27231932	RPTEC	kidney:	n/a
5	chr10:27235598-27235648	ProgFib	skin:	n/a
6	chr10:27230955-27231005	HPAEpiC	pulmonary alveolar:	n/a
7	chr10:27235627-27235677	MCF10A-Er-Src	breast:	n/a
8	chr10:27231882-27231932	HUVEC	blood vessel:	n/a
9	chr10:27230738-27230788	RPTEC	kidney:	n/a
10	chr10:27230955-27231005	HCF	heart:	n/a
11	chr10:27231223-27231273	PFSK-1	brain:	n/a
12	chr10:27230955-27231005	RPTEC	kidney:	n/a
13	chr10:27235598-27235648	GM12878	blood:	n/a
14	chr10:27230738-27230788	HNPCEpiC	eye:	n/a
15	chr10:27235627-27235677	HRPEpiC	eye:	n/a
16	chr10:27231223-27231273	ovcar-3	ovarian:	n/a
17	chr10:27231223-27231273	AG04450	lung:	fetal
18	chr10:27231882-27231932	GM12878	blood:	n/a
19	chr10:27235598-27235648	SK-N-SH	brain:	n/a
20	chr10:27230955-27231005	PrEC	prostate:	n/a
21	chr10:27235598-27235648	HEEpiC	esophagus:	n/a
22	chr10:27232252-27232302	Hela-S3	cervix:	n/a
23	chr10:27231223-27231273	A549	lung:	n/a
24	chr10:27231223-27231273	Hela-S3	cervix:	n/a
25	chr10:27235598-27235648	HRCEpiC	kidney:	n/a
26	chr10:27232252-27232302	AG04450	lung:	fetal
27	chr10:27235598-27235648	HRPEpiC	eye:	n/a
28	chr10:27231223-27231273	BE2_C	brain:	n/a
29	chr10:27231882-27231932	MCF10A-Er-Src	breast:	n/a
30	chr10:27235514-27235564	IMR90	lung:	fetal
31	chr10:27235514-27235564	AG09319	gingival:	n/a
32	chr10:27230955-27231005	MCF-7	breast:	n/a
33	chr10:27231882-27231932	Jurkat	blood:	n/a
34	chr10:27235598-27235648	Hepatocyte	liver:	n/a
35	chr10:27231223-27231273	HIPEpiC	eye:	n/a
36	chr10:27231223-27231273	SAEC	small airway:	n/a
37	chr10:27235627-27235677	NT2-D1	testis:	n/a
38	chr10:27230955-27231005	AG09319	gingival:	n/a
39	chr10:27232252-27232302	AG09309	skin:	n/a
40	chr10:27232252-27232302	HEK293	kidney:	embryo
41	chr10:27235598-27235648	HCT-116	colon:	n/a
42	chr10:27232252-27232302	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:27230738-27230788	NH-A	brain:	n/a
44	chr10:27231882-27231932	BE2_C	brain:	n/a
45	chr10:27230955-27231005	T-47D	breast:	n/a
46	chr10:27235627-27235677	Hela-S3	cervix:	n/a
47	chr10:27230738-27230788	HRCEpiC	kidney:	n/a
48	chr10:27231223-27231273	HEK293	kidney:	embryo
49	chr10:27235598-27235648	GM19239	blood:	n/a
50	chr10:27230738-27230788	HAEpiC	amniotic membrane:	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
LINC00614	TF binding region
LINC00202-1	TF binding region
LINC00614	CpG island
LINC00202-1	CpG island

Extended variants
information (count: 861 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11015394	chr10:27225647-27225648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544901050	chr10:27225655-27225656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200698591	chr10:27225673-27225674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530627825	chr10:27225689-27225690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34416280	chr10:27225706-27225707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550286518	chr10:27225710-27225711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560503126	chr10:27225711-27225712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529652998	chr10:27225723-27225724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549257009	chr10:27225750-27225751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182750878	chr10:27225752-27225753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188919266	chr10:27225759-27225760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367922841	chr10:27225762-27225763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2488584	chr10:27225780-27225781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150911131	chr10:27225786-27225787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192149092	chr10:27225809-27225810	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs41279924	chr10:27225812-27225813	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566833009	chr10:27225842-27225843	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536688596	chr10:27225847-27225848	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12220671	chr10:27225861-27225862	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12218581	chr10:27225881-27225882	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545305641	chr10:27225889-27225890	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564904506	chr10:27225893-27225894	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12219637	chr10:27225904-27225905	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74126891	chr10:27225955-27225956	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560691451	chr10:27225967-27225968	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376583884	chr10:27225980-27225981	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4749199	chr10:27225991-27225992	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs546218701	chr10:27225993-27225994	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183112158	chr10:27225998-27225999	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113860286	chr10:27226005-27226006	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144413217	chr10:27226083-27226084	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571708775	chr10:27226102-27226103	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187355202	chr10:27226117-27226118	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540906853	chr10:27226119-27226120	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11015395	chr10:27226142-27226143	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs572818673	chr10:27226143-27226144	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146593205	chr10:27226160-27226161	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536630997	chr10:27226161-27226162	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553056207	chr10:27226171-27226172	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs544770330	chr10:27226172-27226173	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373709453	chr10:27226182-27226183	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558826043	chr10:27226237-27226238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575089363	chr10:27226268-27226269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561450478	chr10:27226302-27226303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4749200	chr10:27226305-27226306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555612969	chr10:27226354-27226355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140313605	chr10:27226361-27226362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141545333	chr10:27226381-27226382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386742195	chr10:27226382-27226383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191813192	chr10:27226383-27226384	Weak transcription Enhancers	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:89 , 50 per page) page: 1 2

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	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:27220800-27235200	Weak transcription	Gastric	stomach
6	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
8	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
10	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle
12	chr10:27227400-27228000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:27227400-27228800	Active TSS	Fetal Muscle Trunk	muscle
14	chr10:27227800-27228400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27227800-27228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:27227800-27229200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:27228000-27229200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:27228200-27229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:27228200-27235200	Weak transcription	Right Atrium	heart
20	chr10:27228400-27230200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:27228600-27229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:27228800-27229200	Enhancers	Fetal Muscle Trunk	muscle
23	chr10:27229000-27229200	Enhancers	Fetal Muscle Leg	muscle
24	chr10:27229000-27230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:27229200-27230000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:27229200-27239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:27230000-27230400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:27230000-27230400	Enhancers	Fetal Muscle Trunk	muscle
29	chr10:27230200-27230400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr10:27230200-27230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:27230200-27230600	ZNF genes & repeats	Pancreas	Pancrea
32	chr10:27230200-27232000	Weak transcription	Spleen	Spleen
33	chr10:27230600-27235000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:27230600-27235000	Weak transcription	Pancreas	Pancrea
35	chr10:27233000-27233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:27234200-27234400	Enhancers	NHEK	skin
37	chr10:27234200-27235600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:27234400-27235600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr10:27234400-27235800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:27234400-27236000	Flanking Active TSS	NHEK	skin
41	chr10:27234800-27235800	Enhancers	HMEC	breast
42	chr10:27235000-27235200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr10:27235000-27235200	Enhancers	Esophagus	oesophagus
44	chr10:27235000-27235200	Active TSS	Fetal Brain Female	brain
45	chr10:27235000-27235200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
46	chr10:27235000-27235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:27235000-27235600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:27235000-27235600	Active TSS	Brain Anterior Caudate	brain
49	chr10:27235000-27235600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr10:27235000-27235600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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