Variant report

Variant	rs6672806
Chromosome Location	chr1:224817506-224817507
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224806254..224809054-chr1:224817462..224819155,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12030079	0.80[CEU][hapmap]
rs12030696	0.81[CEU][hapmap]
rs17513562	0.85[CEU][hapmap]
rs4564105	0.81[CEU][hapmap]
rs56039603	0.94[EUR][1000 genomes]
rs56403019	0.87[EUR][1000 genomes]
rs6661853	0.81[JPT][hapmap]
rs6664616	0.81[JPT][hapmap]
rs6669231	0.85[AFR][1000 genomes]
rs6672413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6698799	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7521221	0.81[CEU][hapmap]
rs7547239	0.81[CEU][hapmap]
rs880496	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs904506	0.88[EUR][1000 genomes]
rs9660759	0.81[CEU][hapmap]
rs9661696	0.81[CEU][hapmap]
rs9661955	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3321244	chr1:224815519-224818391	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3321241	chr1:224815568-224818390	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3321242	chr1:224815608-224818339	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv826820	chr1:224815650-224818305	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3321243	chr1:224815657-224818312	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3321245	chr1:224815671-224818312	Genic enhancers Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv826831	chr1:224815703-224818305	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
3	chr1:224812600-224819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224812800-224825200	Weak transcription	HMEC	breast
5	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:224813000-224820200	Weak transcription	Dnd41	blood
7	chr1:224814400-224819400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:224814600-224819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:224814600-224819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224814600-224819800	Weak transcription	HSMM	muscle
11	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:224814800-224819000	Weak transcription	Osteobl	bone
13	chr1:224814800-224819200	Weak transcription	NHLF	lung
14	chr1:224815600-224817800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:224815600-224823200	Enhancers	Fetal Brain Male	brain
16	chr1:224816000-224820200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224816200-224822600	Enhancers	Fetal Brain Female	brain
18	chr1:224816400-224818400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:224816400-224819200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:224816400-224819400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224816400-224820400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224816400-224820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:224816600-224819200	Weak transcription	Pancreas	Pancrea
24	chr1:224817000-224817600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:224817200-224818200	Strong transcription	NHDF-Ad	bronchial
26	chr1:224817200-224818600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:224817200-224819000	Genic enhancers	NH-A	brain
28	chr1:224817400-224820000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links