Variant report

Variant	rs877248
Chromosome Location	chr8:52851634-52851635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52811258..52812975-chr8:52850784..52853041,2	MCF-7	breast:
2	chr8:52812423..52815301-chr8:52851311..52852842,2	K562	blood:

Variant related genes	Relation type
ENSG00000228801	Chromatin interaction
ENSG00000168300	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10453128	0.82[ASN][1000 genomes]
rs1515688	0.84[EUR][1000 genomes]
rs1589079	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16916966	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16916968	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138297	0.90[ASN][1000 genomes]
rs2176119	0.90[ASN][1000 genomes]
rs6473666	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6993367	0.80[EUR][1000 genomes]
rs7001651	0.84[EUR][1000 genomes]
rs7813414	0.98[ASN][1000 genomes]
rs7816834	0.82[ASN][1000 genomes]
rs7817558	0.82[ASN][1000 genomes]
rs7817892	0.82[ASN][1000 genomes]
rs7819892	1.00[ASN][1000 genomes]
rs7820177	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7834181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7835856	0.81[EUR][1000 genomes]
rs7838307	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7843189	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
4	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
5	chr8:52837800-52851800	Weak transcription	Ovary	ovary
6	chr8:52838000-52853400	Weak transcription	Esophagus	oesophagus
7	chr8:52841600-52852000	Weak transcription	Lung	lung
8	chr8:52842200-52851800	Weak transcription	Left Ventricle	heart
9	chr8:52845200-52851800	Weak transcription	Pancreas	Pancrea
10	chr8:52845400-52852800	Weak transcription	Psoas Muscle	Psoas
11	chr8:52850000-52860400	Weak transcription	Right Ventricle	heart
12	chr8:52850200-52851800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:52850200-52860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:52850200-52868000	Weak transcription	Primary B cells from cord blood	blood
15	chr8:52850800-52852000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:52850800-52852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:52850800-52852000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:52850800-52852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:52851000-52852000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:52851000-52852200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:52851400-52851800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:52851400-52852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:52851400-52852200	Flanking Active TSS	GM12878-XiMat	blood
24	chr8:52851400-52852200	Enhancers	HUVEC	blood vessel
25	chr8:52851600-52851800	Enhancers	Liver	Liver
26	chr8:52851600-52852000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:52851600-52852000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:52851600-52852000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:52851600-52852200	Enhancers	Gastric	stomach
30	chr8:52851600-52852800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links