Variant report

Variant	rs550313
Chromosome Location	chr11:34830919-34830920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34830057..34832042-chr11:34848126..34850634,2	K562	blood:
2	chr11:34631109..34633523-chr11:34830130..34832941,2	K562	blood:
3	chr11:34830393..34833642-chr11:34837362..34839934,3	K562	blood:
4	chr11:34819205..34826551-chr11:34829823..34835499,8	K562	blood:
5	chr11:34828929..34832909-chr11:34833620..34837580,5	K562	blood:
6	chr11:34621759..34624230-chr11:34829278..34830946,2	K562	blood:
7	chr11:34828810..34832933-chr11:34843194..34845330,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1097517	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2915186	0.91[ASN][1000 genomes]
rs473848	0.91[ASN][1000 genomes]
rs473885	0.91[ASN][1000 genomes]
rs474636	0.87[AFR][1000 genomes]
rs483976	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs485845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496558	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs498798	0.95[ASN][1000 genomes]
rs499183	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs508062	0.90[ASN][1000 genomes]
rs512013	0.90[ASN][1000 genomes]
rs516228	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs519858	0.81[AFR][1000 genomes]
rs523246	0.90[ASN][1000 genomes]
rs535719	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs537364	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs537873	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs539044	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs546131	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs546521	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs547504	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs548967	0.91[ASN][1000 genomes]
rs552171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552627	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs552868	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs553789	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs558967	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs561477	0.91[ASN][1000 genomes]
rs566798	0.91[ASN][1000 genomes]
rs568529	0.90[ASN][1000 genomes]
rs572690	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs578002	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs579926	0.91[ASN][1000 genomes]
rs744841	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs836950	0.91[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	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1049551	chr11:34811180-34833640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34815000-34833600	Weak transcription	HepG2	liver
2	chr11:34828400-34831400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:34828600-34831000	Weak transcription	Stomach Mucosa	stomach
4	chr11:34829000-34832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:34829400-34831000	ZNF genes & repeats	K562	blood
6	chr11:34829600-34832400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:34829800-34832600	Enhancers	HUVEC	blood vessel
8	chr11:34830000-34831400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:34830600-34832000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:34830600-34832200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:34830600-34832200	Enhancers	Hela-S3	cervix
12	chr11:34830600-34832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:34830800-34831000	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:34830800-34831200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr11:34830800-34831400	Enhancers	NHEK	skin
16	chr11:34830800-34832200	Enhancers	HMEC	breast

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