Variant report

Variant	rs55948763
Chromosome Location	chr8:61192542-61192543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61191831..61193372-chr8:61284634..61287151,2	K562	blood:
2	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:
3	chr8:61153089..61155024-chr8:61191912..61193878,2	K562	blood:
4	chr8:61188816..61193463-chr8:61245871..61250410,5	K562	blood:
5	chr8:61191754..61193804-chr8:61209326..61211666,3	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10504308	0.80[ASN][1000 genomes]
rs11996007	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997891	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155603	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676801	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679218	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925975	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926000	0.80[ASN][1000 genomes]
rs1842391	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737555	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738802	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56275436	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57360505	0.81[ASN][1000 genomes]
rs59616608	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59700121	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60042864	0.81[ASN][1000 genomes]
rs60690040	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61057972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648503	0.80[ASN][1000 genomes]
rs72665113	0.95[ASN][1000 genomes]
rs72665118	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665119	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665124	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665137	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73685409	0.86[AFR][1000 genomes]
rs7462854	0.94[ASN][1000 genomes]
rs7463394	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820639	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827209	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839481	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9693218	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61167000-61193200	Weak transcription	Gastric	stomach
2	chr8:61167000-61193200	Weak transcription	Lung	lung
3	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
4	chr8:61187200-61193000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:61187200-61193000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:61187600-61192800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:61187800-61193000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:61187800-61193200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:61191800-61193000	Active TSS	Fetal Intestine Large	intestine
10	chr8:61191800-61193400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61191800-61194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:61192000-61193000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:61192200-61193200	Active TSS	Right Ventricle	heart
14	chr8:61192200-61194600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:61192200-61194800	Active TSS	Right Atrium	heart
16	chr8:61192400-61194200	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:61192400-61194200	Active TSS	A549	lung
18	chr8:61192400-61194600	Active TSS	K562	blood

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