Variant report

Variant	rs412646
Chromosome Location	chr21:46589203-46589204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:46589085-46589336	K562	blood:	n/a	n/a
2	GATA1	chr21:46588410-46589209	PBDE	blood:	n/a	n/a
3	RUNX3	chr21:46589001-46589257	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46586995..46592553-chr21:46595453..46599761,7	K562	blood:
2	chr21:46582653..46585265-chr21:46586911..46589357,3	MCF-7	breast:
3	chr21:46588242..46590449-chr21:46597999..46599761,2	K562	blood:
4	chr21:46587207..46589418-chr21:46711709..46714315,2	K562	blood:

Variant related genes	Relation type
ADARB1	TF binding region
ENSG00000223768	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11088983	0.91[CEU][hapmap];0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11700834	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13051236	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537121	0.85[EUR][1000 genomes]
rs1537122	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071873	0.84[AFR][1000 genomes]
rs2225434	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838799	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838800	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2849618	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367986	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs372519	0.82[AMR][1000 genomes]
rs372766	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs373037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs374778	0.84[EUR][1000 genomes]
rs377524	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs377902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788183	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs381466	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs384876	0.84[EUR][1000 genomes]
rs386762	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs394608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394872	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs395761	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397092	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs399185	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs403694	0.80[ASN][1000 genomes]
rs407133	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs414715	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs421716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs422720	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs422870	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427943	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs434492	0.84[EUR][1000 genomes]
rs446158	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4818766	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4819034	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8134836	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs914206	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9637192	0.81[EUR][1000 genomes]
rs983157	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs984791	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9980766	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1063943	chr21:46571988-46819424	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv544482	chr21:46571988-46819424	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1064859	chr21:46571988-46830602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv544483	chr21:46571988-46830602	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv1061691	chr21:46572641-46831862	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	nsv544484	chr21:46572641-46831862	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	esv1802303	chr21:46580319-46606676	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv587839	chr21:46580370-46837709	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv587840	chr21:46580370-46839904	Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
14	nsv916959	chr21:46585681-46831845	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
3	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
4	chr21:46572200-46595600	Weak transcription	Brain Germinal Matrix	brain
5	chr21:46572400-46601000	Weak transcription	Fetal Brain Female	brain
6	chr21:46572800-46604800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:46573600-46591800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:46575000-46595600	Weak transcription	Dnd41	blood
9	chr21:46575000-46601000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:46575400-46604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:46576200-46595800	Weak transcription	Fetal Lung	lung
12	chr21:46580400-46591800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr21:46580400-46595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:46582000-46590200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr21:46582400-46589400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr21:46582400-46595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:46582400-46595600	Weak transcription	Gastric	stomach
18	chr21:46582600-46591000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:46582600-46598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:46582800-46592000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:46583400-46589800	Enhancers	Colon Smooth Muscle	Colon
22	chr21:46583600-46591000	Weak transcription	Primary B cells from cord blood	blood
23	chr21:46583800-46592000	Weak transcription	Fetal Stomach	stomach
24	chr21:46583800-46596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:46583800-46606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:46584000-46596600	Weak transcription	Brain Angular Gyrus	brain
27	chr21:46584400-46595600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:46584800-46590000	Enhancers	HSMMtube	muscle
29	chr21:46584800-46591800	Weak transcription	Spleen	Spleen
30	chr21:46585000-46592000	Weak transcription	Right Ventricle	heart
31	chr21:46585000-46592400	Weak transcription	Lung	lung
32	chr21:46586400-46589800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:46586400-46591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:46587200-46589600	Enhancers	Osteobl	bone
35	chr21:46587200-46589800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:46587200-46596000	Weak transcription	Ovary	ovary
37	chr21:46587200-46600200	Weak transcription	Liver	Liver
38	chr21:46587600-46590000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:46587600-46590000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:46587600-46590400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:46587800-46589600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr21:46587800-46589800	Enhancers	K562	blood
43	chr21:46587800-46590000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46587800-46590000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr21:46587800-46590000	Enhancers	Left Ventricle	heart
46	chr21:46587800-46590000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr21:46587800-46590200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr21:46588000-46591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:46588000-46591600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:46588000-46593000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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