Variant report

Variant	rs4626569
Chromosome Location	chr8:108326351-108326352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108324753..108329300-chr8:108347441..108349729,6	K562	blood:
2	chr8:108304841..108306771-chr8:108325164..108328030,2	K562	blood:
3	chr8:108316746..108319440-chr8:108325367..108326969,2	K562	blood:
4	chr8:108325638..108328700-chr8:108330925..108333725,3	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10955446	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16876090	0.88[CEU][hapmap]
rs2445361	0.80[EUR][1000 genomes]
rs2514888	1.00[ASW][hapmap];0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs4357258	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4397378	1.00[ASW][hapmap];0.88[CEU][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6469107	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7009229	0.82[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7013390	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7842941	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7845785	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108304600-108326400	Weak transcription	Ovary	ovary
3	chr8:108323000-108326400	Weak transcription	Right Atrium	heart
4	chr8:108323000-108326600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:108323000-108328000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:108323000-108349000	Weak transcription	HSMM	muscle
7	chr8:108323200-108326400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:108323200-108327400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:108323400-108327000	Weak transcription	Fetal Kidney	kidney
10	chr8:108323400-108327800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:108324400-108326800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:108324600-108326400	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:108325200-108326400	Strong transcription	K562	blood
14	chr8:108325200-108327200	Weak transcription	Fetal Thymus	thymus
15	chr8:108325200-108327600	Weak transcription	A549	lung
16	chr8:108325200-108328200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:108325200-108329600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:108325200-108330600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:108325800-108327000	Enhancers	Dnd41	blood
20	chr8:108326000-108330400	Enhancers	Primary T cells from cord blood	blood
21	chr8:108326200-108326800	Enhancers	Primary B cells from cord blood	blood
22	chr8:108326200-108327000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:108326200-108327200	Enhancers	HUVEC	blood vessel
24	chr8:108326200-108327200	Enhancers	NHLF	lung
25	chr8:108326200-108328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:108326200-108328200	Enhancers	Fetal Lung	lung
27	chr8:108326200-108328200	Enhancers	Osteobl	bone
28	chr8:108326200-108328400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:108326200-108328400	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links