Variant report

Variant	rs2281793
Chromosome Location	chr10:50727542-50727543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50727480-50727630	GM12873	blood:	n/a	n/a
2	CTCF	chr10:50726393-50727672	A549	lung:	n/a	chr10:50727223-50727236 chr10:50727221-50727239
3	SMC3	chr10:50726803-50727585	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr10:50726893-50727573	HCT-116	colon:	n/a	chr10:50727223-50727236 chr10:50727221-50727239
5	CTCF	chr10:50727460-50727610	GM12875	blood:	n/a	n/a
6	CTCF	chr10:50727500-50727650	AoAF	blood vessel:	n/a	n/a
7	RAD21	chr10:50726894-50727553	HCT-116	colon:	n/a	chr10:50727219-50727238
8	CTCF	chr10:50727480-50727630	NHDF-neo	bronchial:	n/a	n/a
9	RAD21	chr10:50726673-50727651	SK-N-SH	brain:	n/a	chr10:50727219-50727238
10	CTCF	chr10:50727460-50727610	HPF	lung:	n/a	n/a
11	POLR2A	chr10:50727485-50727615	ProgFib	skin:	n/a	n/a
12	CTCF	chr10:50726825-50727615	SK-N-SH	brain:	n/a	chr10:50727223-50727236 chr10:50727221-50727239
13	CTCF	chr10:50727420-50727570	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr10:50727460-50727610	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50726583..50728092-chr10:50732083..50734256,2	MCF-7	breast:
2	chr10:50715711..50718094-chr10:50726640..50728977,2	K562	blood:
3	chr10:50726029..50728979-chr10:50731581..50735350,6	K562	blood:
4	chr10:50183988..50185069-chr10:50726829..50727783,3	K562	blood:
5	chr10:50614821..50616660-chr10:50726765..50728206,11	K562	blood:
6	chr10:50724821..50729589-chr10:50731335..50734731,5	K562	blood:
7	chr10:50715569..50718101-chr10:50726217..50728314,2	K562	blood:
8	chr10:49866375..49866922-chr10:50726828..50727744,2	K562	blood:
9	chr10:50726159..50727907-chr10:50745055..50747037,2	MCF-7	breast:
10	chr10:50615306..50616280-chr10:50726775..50727751,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRGX-3	chr10:50726991-50729600	NONHSAT013309

No data

Variant related genes	Relation type
PGBD3	TF binding region
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10776575	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857497	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10857504	0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857506	0.81[ASN][1000 genomes]
rs10857510	0.85[AMR][1000 genomes]
rs11101144	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591393	0.85[AMR][1000 genomes]
rs12146288	0.84[AMR][1000 genomes]
rs1917821	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2177819	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2229760	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377900	0.80[ASN][1000 genomes]
rs3750747	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3793784	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253160	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253234	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7895633	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9971208	0.85[ASN][1000 genomes]
rs9988727	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
2	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
4	chr10:50691000-50728200	Weak transcription	Gastric	stomach
5	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
6	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
7	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
8	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
10	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:50717200-50729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr10:50717200-50731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:50717200-50736200	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
17	chr10:50717400-50737000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr10:50717600-50730600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr10:50717600-50731600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:50718200-50729200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:50718800-50727600	Weak transcription	Brain Angular Gyrus	brain
22	chr10:50718800-50727800	Weak transcription	Esophagus	oesophagus
23	chr10:50720000-50728200	Weak transcription	Fetal Thymus	thymus
24	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:50721000-50728000	Weak transcription	Thymus	Thymus
26	chr10:50721600-50734800	Weak transcription	A549	lung
27	chr10:50721800-50730000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:50722200-50728000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:50723000-50729800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr10:50723000-50730000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr10:50723000-50730000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr10:50723000-50734400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:50723200-50727800	Strong transcription	Hela-S3	cervix
35	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
36	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:50723200-50741000	Strong transcription	HMEC	breast
38	chr10:50723200-50741800	Strong transcription	Osteobl	bone
39	chr10:50723400-50727800	Strong transcription	GM12878-XiMat	blood
40	chr10:50723400-50729200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr10:50723400-50729200	Strong transcription	K562	blood
42	chr10:50723400-50731200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
45	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:50723400-50741600	Strong transcription	NHEK	skin
48	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr10:50723800-50731800	Weak transcription	NHLF	lung
50	chr10:50724200-50732200	Weak transcription	Pancreas	Pancrea

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