Variant report

Variant	rs72665118
Chromosome Location	chr8:61181847-61181848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61151270..61153904-chr8:61181320..61183872,2	K562	blood:
2	chr8:61179682..61183656-chr8:61191948..61195709,5	MCF-7	breast:
3	chr8:61181201..61184970-chr8:61306411..61309605,3	K562	blood:
4	chr8:61179098..61182754-chr8:61192341..61195913,4	MCF-7	breast:

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	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11996007	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997891	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155603	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676801	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679218	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925975	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16926000	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1842391	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737555	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4738802	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55948763	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275436	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57360505	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58620061	0.88[AFR][1000 genomes]
rs59616608	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59700121	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60042864	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60690040	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61057972	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648503	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72665113	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72665119	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665124	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665137	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7462854	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7463394	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820639	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827209	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839481	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9693218	0.97[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61164200-61186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:61167000-61193200	Weak transcription	Gastric	stomach
3	chr8:61167000-61193200	Weak transcription	Lung	lung
4	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
5	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:61172600-61185800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:61172800-61191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:61173000-61187600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:61174600-61186600	Strong transcription	K562	blood
10	chr8:61178000-61185200	Weak transcription	A549	lung
11	chr8:61178000-61191000	Weak transcription	Fetal Stomach	stomach
12	chr8:61178200-61182200	Weak transcription	Fetal Thymus	thymus
13	chr8:61178200-61185200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:61178400-61182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:61178800-61182800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:61179800-61191000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:61181600-61186200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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