Variant report

Variant	rs6749198
Chromosome Location	chr2:99684224-99684225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99343906..99346771-chr2:99682642..99684272,2	MCF-7	breast:
2	chr2:99681346..99684760-chr2:99690104..99692439,3	K562	blood:
3	chr2:99224528..99226809-chr2:99681520..99684338,2	MCF-7	breast:
4	chr2:99683250..99685988-chr2:99756129..99759687,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115446	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000071073	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000273045	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10496334	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10496335	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11123760	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123767	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12620997	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17022180	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17022249	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277876	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28785294	0.86[EUR][1000 genomes]
rs28794804	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34751553	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35071324	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35458525	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3762472	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791211	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4850895	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56691336	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56926889	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57273701	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57743480	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57998052	0.86[EUR][1000 genomes]
rs58595226	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58745514	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59252741	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59506582	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60056452	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60516303	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60653099	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7568749	0.86[EUR][1000 genomes];0.89[ASN][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	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99682000-99685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:99682400-99684400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:99682600-99685000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:99683200-99684800	Enhancers	Dnd41	blood
5	chr2:99683200-99688600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:99683400-99684600	Enhancers	HepG2	liver
7	chr2:99683400-99684600	Weak transcription	HUVEC	blood vessel
8	chr2:99683400-99684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:99683600-99685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99683600-99688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:99684000-99684600	Enhancers	Primary monocytes fromperipheralblood	blood

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