Variant report

Variant	rs61859055
Chromosome Location	chr10:43948967-43948968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43948851-43949149	GM12891	blood:	n/a	n/a
2	RUNX3	chr10:43948694-43949260	GM12878	blood:	n/a	n/a
3	BATF	chr10:43948829-43949229	GM12878	blood:	n/a	n/a
4	FOXM1	chr10:43948743-43949226	GM12878	blood:	n/a	n/a
5	IRF4	chr10:43948851-43949264	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:43948799-43949346	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:43947308-43949297	Raji	blood:	n/a	n/a
8	POLR2A	chr10:43947292-43949362	GM12891	blood:	n/a	n/a
9	BATF	chr10:43948888-43949178	GM12878	blood:	n/a	n/a
10	ATF2	chr10:43948851-43949227	GM12878	blood:	n/a	n/a
11	NFYB	chr10:43948951-43949297	GM12878	blood:	n/a	n/a
12	EP300	chr10:43948948-43949148	GM12878	blood:	n/a	n/a
13	WRNIP1	chr10:43948919-43949191	GM12878	blood:	n/a	n/a
14	POU2F2	chr10:43948810-43949195	GM12891	blood:	n/a	n/a
15	CREB1	chr10:43948856-43949384	GM12878	blood:	n/a	n/a
16	POU2F2	chr10:43948898-43949342	GM12891	blood:	n/a	n/a
17	RUNX3	chr10:43948691-43949248	GM12878	blood:	n/a	n/a
18	NFIC	chr10:43948768-43949188	GM12878	blood:	n/a	n/a
19	PML	chr10:43948712-43949233	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:43948655-43949119	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:43948408-43950459	K562	blood:	n/a	n/a
22	ATF2	chr10:43948773-43949301	GM12878	blood:	n/a	n/a
23	STAT3	chr10:43948938-43949343	GM12878	blood:	n/a	n/a
24	MTA3	chr10:43948717-43949196	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:43948506-43949836	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr10:43948932-43949132	GM12878	blood:	n/a	n/a
27	YY1	chr10:43948807-43949057	GM12891	blood:	n/a	n/a
28	MTA3	chr10:43948669-43949272	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:43941606..43943262-chr10:43948647..43951071,2	K562	blood:
2	chr10:43943576..43945411-chr10:43948645..43950880,3	K562	blood:
3	chr10:43943911..43945434-chr10:43948722..43951171,2	K562	blood:
4	chr10:43901457..43906189-chr10:43948713..43953343,15	MCF-7	breast:
5	chr10:43930995..43932996-chr10:43948327..43951510,4	MCF-7	breast:
6	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
7	chr10:43911252..43915931-chr10:43947419..43953058,11	K562	blood:
8	chr10:43848475..43851407-chr10:43948589..43951104,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FXYD4-4	chr10:43947368-43950112	NONHSAT012969

No data

Variant related genes	Relation type
RNU7-193P	TF binding region
ENSG00000221400	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11548184	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11813872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11814130	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11816311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817218	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817723	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11817841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11818610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11819010	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12354765	0.88[ASN][1000 genomes]
rs12569974	0.88[ASN][1000 genomes]
rs12570067	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12570790	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571047	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571447	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572226	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572292	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34634785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41306552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41307500	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60057912	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60274910	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61113633	0.92[ASN][1000 genomes]
rs61858960	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858962	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858963	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858964	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858965	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61858967	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858989	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858997	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858998	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61858999	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859005	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859006	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859048	0.89[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859052	0.91[EUR][1000 genomes]
rs61859054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859967	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859968	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61860013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61860885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860886	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860887	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61860890	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43933000-43949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:43933000-43950200	Weak transcription	Lung	lung
3	chr10:43933200-43950000	Weak transcription	Brain Substantia Nigra	brain
4	chr10:43933200-43950200	Weak transcription	Brain Angular Gyrus	brain
5	chr10:43933200-43950200	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:43933200-43950200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:43933200-43950200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:43933600-43949800	Weak transcription	Adipose Nuclei	Adipose
9	chr10:43934200-43949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:43936400-43950000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:43940200-43950200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:43940400-43950200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:43940400-43950200	Weak transcription	Colonic Mucosa	Colon
14	chr10:43940800-43949600	Weak transcription	Hela-S3	cervix
15	chr10:43940800-43950600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:43943000-43950400	Weak transcription	Fetal Intestine Large	intestine
17	chr10:43943200-43950400	Weak transcription	Fetal Stomach	stomach
18	chr10:43943800-43950200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:43945000-43950200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:43946400-43950200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:43946400-43950600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr10:43946600-43950000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr10:43946800-43949200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:43946800-43950000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:43947000-43949200	Enhancers	Primary hematopoietic stem cells	blood
26	chr10:43947000-43950200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr10:43947200-43949400	Flanking Active TSS	GM12878-XiMat	blood
28	chr10:43947200-43949800	Enhancers	Primary T cells from cord blood	blood
29	chr10:43947200-43949800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr10:43947200-43950000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:43947200-43950200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr10:43947200-43950200	Enhancers	HMEC	breast
33	chr10:43947200-43950400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr10:43947200-43950400	Flanking Active TSS	Dnd41	blood
35	chr10:43947200-43950600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:43947400-43949200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr10:43947400-43949200	Enhancers	NHDF-Ad	bronchial
38	chr10:43947400-43949400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:43947400-43949400	Flanking Active TSS	Fetal Thymus	thymus
40	chr10:43947400-43949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:43947600-43950200	Enhancers	Brain Anterior Caudate	brain
42	chr10:43947600-43950200	Enhancers	HSMMtube	muscle
43	chr10:43947800-43949000	Enhancers	Osteobl	bone
44	chr10:43947800-43949600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:43947800-43950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:43947800-43950200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:43947800-43950200	Weak transcription	HUVEC	blood vessel
48	chr10:43947800-43950400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:43947800-43950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:43947800-43950600	Weak transcription	Small Intestine	intestine

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