Variant report

Variant	nsv1036080
Chromosome Location	chr10:27215829-27229993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:27215887-27216043	HepG2	liver:	n/a	n/a
2	CCNT2	chr10:27220310-27220518	K562	blood:	n/a	n/a
3	CEBPB	chr10:27215861-27216075	A549	lung:	n/a	n/a
4	CEBPB	chr10:27215887-27216002	IMR90	lung:	n/a	n/a
5	CEBPB	chr10:27215822-27216090	HepG2	liver:	n/a	n/a
6	CEBPB	chr10:27226988-27227113	A549	lung:	n/a	n/a
7	CEBPB	chr10:27215866-27216067	K562	blood:	n/a	n/a
8	CHD1	chr10:27228380-27228580	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr10:27220233-27220239	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr10:27220360-27220395	GM12878	blood:	n/a	n/a
11	CTCF	chr10:27220320-27220470	Caco-2	colon:	n/a	n/a
12	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
13	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
14	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:27218367-27218443	ProgFib	skin:	n/a	n/a
16	CTCF	chr10:27221214-27221303	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr10:27219296-27219360	LNCaP	prostate:	n/a	n/a
18	CTCF	chr10:27220360-27220510	Caco-2	colon:	n/a	n/a
19	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
20	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
21	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
22	CTCF	chr10:27228740-27228890	GM12866	blood:	n/a	n/a
23	CTCF	chr10:27220324-27220375	GM12891	blood:	n/a	n/a
24	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
25	CTCF	chr10:27228220-27228370	GM12865	blood:	n/a	n/a
26	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
27	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:27220237-27220422	GM12878	blood:	n/a	n/a
29	CTCF	chr10:27228220-27228370	GM12864	blood:	n/a	n/a
30	CTCF	chr10:27228340-27228490	GM12870	blood:	n/a	n/a
31	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
32	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
33	E2F6	chr10:27220145-27220457	K562	blood:	n/a	n/a
34	EGR1	chr10:27220103-27220283	K562	blood:	n/a	n/a
35	EGR1	chr10:27220100-27220360	K562	blood:	n/a	n/a
36	ELF1	chr10:27220152-27220414	K562	blood:	n/a	chr10:27220305-27220318
37	ELF1	chr10:27220106-27220499	GM12878	blood:	n/a	chr10:27220305-27220318
38	EP300	chr10:27220086-27220484	HepG2	liver:	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	FOXA1	chr10:27215789-27216038	HepG2	liver:	n/a	n/a
42	HDAC2	chr10:27220117-27220518	HepG2	liver:	n/a	n/a
43	HMGN3	chr10:27220347-27220515	K562	blood:	n/a	n/a
44	HNF4A	chr10:27220063-27220517	HepG2	liver:	n/a	chr10:27220249-27220264
45	HNF4A	chr10:27220119-27220581	HepG2	liver:	n/a	chr10:27220249-27220264
46	HNF4A	chr10:27220091-27220599	HepG2	liver:	n/a	chr10:27220249-27220264
47	HNF4G	chr10:27220158-27220517	HepG2	liver:	n/a	n/a
48	HNF4G	chr10:27220070-27220686	HepG2	liver:	n/a	n/a
49	JUND	chr10:27227608-27227917	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr10:27228426-27228625	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:27220441-27220491	HCT-116	colon:	n/a
2	chr10:27220234-27220284	BE2_C	brain:	n/a
3	chr10:27220234-27220284	Caco-2	colon:	n/a
4	chr10:27220234-27220284	T-47D	breast:	n/a
5	chr10:27220441-27220491	GM19239	blood:	n/a
6	chr10:27220441-27220491	HEK293	kidney:	embryo
7	chr10:27220441-27220491	AG09319	gingival:	n/a
8	chr10:27220441-27220491	Hela-S3	cervix:	n/a
9	chr10:27220441-27220491	NB4	blood:	n/a
10	chr10:27220441-27220491	T-47D	breast:	n/a
11	chr10:27220441-27220491	MCF-7	breast:	n/a
12	chr10:27220441-27220491	AG10803	skin:	n/a
13	chr10:27220234-27220284	AG09319	gingival:	n/a
14	chr10:27220234-27220284	ProgFib	skin:	n/a
15	chr10:27220234-27220284	RPTEC	kidney:	n/a
16	chr10:27220234-27220284	GM19239	blood:	n/a
17	chr10:27220234-27220284	NHDF-neo	bronchial:	n/a
18	chr10:27220441-27220491	H1-hESC	embryonic stem cell:	embryo
19	chr10:27220234-27220284	NB4	blood:	n/a
20	chr10:27220441-27220491	Caco-2	colon:	n/a
21	chr10:27220441-27220491	HepG2	liver:	n/a
22	chr10:27220234-27220284	CMK	blood:	n/a
23	chr10:27220441-27220491	NT2-D1	testis:	n/a
24	chr10:27220234-27220284	NT2-D1	testis:	n/a
25	chr10:27220441-27220491	HCF	heart:	n/a
26	chr10:27220234-27220284	AG04449	skin:	fetal
27	chr10:27220441-27220491	HNPCEpiC	eye:	n/a
28	chr10:27220234-27220284	Hepatocyte	liver:	n/a
29	chr10:27220441-27220491	IMR90	lung:	fetal
30	chr10:27220234-27220284	PANC-1	pancreas:	n/a
31	chr10:27220441-27220491	AG09309	skin:	n/a
32	chr10:27220441-27220491	HRE	kidney:	n/a
33	chr10:27220234-27220284	PFSK-1	brain:	n/a
34	chr10:27220441-27220491	HUVEC	blood vessel:	n/a
35	chr10:27220234-27220284	U87	brain:	n/a
36	chr10:27220234-27220284	AG04450	lung:	fetal
37	chr10:27220441-27220491	HEEpiC	esophagus:	n/a
38	chr10:27220234-27220284	K562	blood:	n/a
39	chr10:27220441-27220491	NHBE	bronchial:	n/a
40	chr10:27220441-27220491	A549	lung:	n/a
41	chr10:27220234-27220284	HPAEpiC	pulmonary alveolar:	n/a
42	chr10:27220234-27220284	HUVEC	blood vessel:	n/a
43	chr10:27220441-27220491	GM12878	blood:	n/a
44	chr10:27220441-27220491	PFSK-1	brain:	n/a
45	chr10:27220441-27220491	GM06990	blood:	n/a
46	chr10:27220441-27220491	ovcar-3	ovarian:	n/a
47	chr10:27220234-27220284	A549	lung:	n/a
48	chr10:27220441-27220491	HMEC	breast:	n/a
49	chr10:27220441-27220491	HL-60	blood:	n/a
50	chr10:27220441-27220491	HAEpiC	amniotic membrane:	n/a

(count:1 , 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:

No data

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

Extended variants
information (count: 679 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1891623	chr10:27217809-27217810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538216948	chr10:27217831-27217832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554700268	chr10:27217832-27217833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574794001	chr10:27217833-27217834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190971835	chr10:27217842-27217843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183737368	chr10:27217866-27217867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576590651	chr10:27217886-27217887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186634854	chr10:27217911-27217912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561114108	chr10:27217946-27217947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545637370	chr10:27217957-27217958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562602792	chr10:27217977-27217978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576082027	chr10:27218004-27218005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541790375	chr10:27218007-27218008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11015385	chr10:27218041-27218042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527300489	chr10:27218062-27218063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150186443	chr10:27218069-27218070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560776217	chr10:27218101-27218102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532743469	chr10:27218107-27218108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200151368	chr10:27218168-27218169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139366993	chr10:27218198-27218199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9299836	chr10:27218205-27218206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191432370	chr10:27218215-27218216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141814109	chr10:27218218-27218219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375349895	chr10:27218223-27218224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576356915	chr10:27218239-27218240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369553510	chr10:27218257-27218258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1776750	chr10:27218280-27218281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs568317821	chr10:27218284-27218285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1750264	chr10:27218298-27218299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17530883	chr10:27218313-27218314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1750265	chr10:27218325-27218326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1750266	chr10:27218326-27218327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556117150	chr10:27218375-27218376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576198507	chr10:27218388-27218389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182802550	chr10:27218409-27218410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566367254	chr10:27218453-27218454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555442613	chr10:27218454-27218455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572028660	chr10:27218455-27218456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144486610	chr10:27218485-27218486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560764009	chr10:27218490-27218491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528778267	chr10:27218502-27218503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532891123	chr10:27218523-27218524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546492106	chr10:27218548-27218549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562913537	chr10:27218559-27218560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377087394	chr10:27218590-27218591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548354913	chr10:27218591-27218592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116523170	chr10:27218593-27218594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527678891	chr10:27218595-27218596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371975200	chr10:27218597-27218598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12414111	chr10:27218637-27218638	Weak transcription	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:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27217800-27218200	Enhancers	Duodenum Mucosa	Duodenum
2	chr10:27218200-27220000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:27218400-27219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:27218800-27220200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:27219600-27220000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:27219600-27220000	Enhancers	Fetal Intestine Large	intestine
7	chr10:27219600-27220000	Enhancers	HepG2	liver
8	chr10:27219800-27220000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:27219800-27220000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:27219800-27220000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:27219800-27220000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:27219800-27220200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:27219800-27220400	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:27219800-27220600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr10:27220000-27220200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:27220000-27220200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr10:27220000-27220200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:27220000-27220200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:27220000-27220200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:27220000-27220200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr10:27220000-27220200	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr10:27220000-27220200	Active TSS	Ovary	ovary
23	chr10:27220000-27220400	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:27220000-27220600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr10:27220000-27220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:27220000-27220800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr10:27220000-27220800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:27220000-27220800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:27220000-27220800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr10:27220000-27220800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:27220200-27220400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:27220200-27220400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr10:27220200-27220400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:27220200-27220400	Active TSS	Adipose Nuclei	Adipose
35	chr10:27220200-27220400	Enhancers	Esophagus	oesophagus
36	chr10:27220200-27220400	Enhancers	Fetal Intestine Large	intestine
37	chr10:27220200-27220400	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr10:27220200-27220400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr10:27220200-27220400	Enhancers	Placenta	Placenta
40	chr10:27220200-27220400	Active TSS	Fetal Stomach	stomach
41	chr10:27220200-27220400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
42	chr10:27220200-27220400	Active TSS	Psoas Muscle	Psoas
43	chr10:27220200-27220400	Flanking Active TSS	Right Atrium	heart
44	chr10:27220200-27220400	Enhancers	Right Ventricle	heart
45	chr10:27220200-27220400	Enhancers	HMEC	breast
46	chr10:27220200-27220400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr10:27220200-27220600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:27220200-27220600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:27220200-27220600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:27220200-27220600	Enhancers	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links