Variant report

Variant	rs2838651
Chromosome Location	chr21:46124496-46124497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46124017..46124542-chr21:46184417..46184993,2	MCF-7	breast:
2	chr21:46124089..46124910-chr21:46172498..46173192,2	MCF-7	breast:
3	chr21:46119768..46122528-chr21:46123113..46125261,2	MCF-7	breast:
4	chr21:46123174..46125281-chr21:46125754..46127602,2	K562	blood:

Variant related genes	Relation type
ENSG00000236382	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10854463	0.81[JPT][hapmap]
rs1107120	0.91[JPT][hapmap]
rs1108260	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088959	0.85[ASN][1000 genomes]
rs1123949	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1126379	0.80[ASN][1000 genomes]
rs1126382	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1296488	0.91[JPT][hapmap];0.88[EUR][1000 genomes]
rs13049613	0.85[ASN][1000 genomes]
rs1883039	0.86[JPT][hapmap]
rs1883041	0.87[JPT][hapmap]
rs1883042	0.81[JPT][hapmap]
rs1883043	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2094882	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150437	0.80[ASN][1000 genomes]
rs2210285	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2210286	0.81[ASN][1000 genomes]
rs2225433	0.82[JPT][hapmap]
rs2250930	0.88[CEU][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs2256361	0.81[JPT][hapmap]
rs2256490	0.81[JPT][hapmap]
rs2256496	0.81[JPT][hapmap]
rs2329893	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2329894	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2838619	0.82[JPT][hapmap]
rs2838623	0.87[JPT][hapmap]
rs2838624	0.87[JPT][hapmap]
rs2838625	0.86[JPT][hapmap]
rs2838627	0.80[JPT][hapmap]
rs2838629	0.90[JPT][hapmap]
rs2838635	0.81[JPT][hapmap]
rs2838636	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2838638	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2838640	0.82[ASN][1000 genomes]
rs4434080	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4476431	0.81[ASN][1000 genomes]
rs4818957	0.80[ASN][1000 genomes]
rs4818963	0.81[ASN][1000 genomes]
rs4818964	0.81[ASN][1000 genomes]
rs5013900	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6518198	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6518199	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7277350	0.84[YRI][hapmap]
rs7282994	0.89[YRI][hapmap]
rs7283339	0.82[ASN][1000 genomes]
rs7283606	0.94[EUR][1000 genomes]
rs743500	0.98[EUR][1000 genomes]
rs8126793	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs8127010	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs8127265	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs8129342	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs8130344	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8132352	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8132832	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs8134266	0.90[JPT][hapmap]
rs926195	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs9647234	0.81[JPT][hapmap]
rs9647235	0.81[JPT][hapmap]
rs9982962	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46121400-46125200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
3	chr21:46123200-46124600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr21:46123400-46124600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:46123800-46124800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:46123800-46124800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr21:46124000-46124800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr21:46124000-46124800	Bivalent Enhancer	HepG2	liver
9	chr21:46124200-46124800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
10	chr21:46124200-46124800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr21:46124200-46124800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr21:46124200-46125000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr21:46124400-46124600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr21:46124400-46124600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr21:46124400-46124600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46124400-46124800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:46124400-46124800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr21:46124400-46124800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:46124400-46127000	ZNF genes & repeats	Spleen	Spleen

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