Variant report

Variant	rs2687103
Chromosome Location	chr7:99384968-99384969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99380939..99382491-chr7:99384838..99386622,2	K562	blood:

Variant related genes	Relation type
ENSG00000160868	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10255255	1.00[EUR][1000 genomes]
rs10275362	1.00[EUR][1000 genomes]
rs17161786	0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1851426	0.92[GIH][hapmap]
rs1965481	1.00[EUR][1000 genomes]
rs2015504	1.00[EUR][1000 genomes]
rs2404767	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2687089	1.00[EUR][1000 genomes]
rs2687095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687107	1.00[EUR][1000 genomes]
rs2687110	1.00[EUR][1000 genomes]
rs2687127	1.00[EUR][1000 genomes]
rs2737418	1.00[EUR][1000 genomes]
rs2738258	1.00[EUR][1000 genomes]
rs2740570	1.00[EUR][1000 genomes]
rs28808927	1.00[EUR][1000 genomes]
rs28988585	1.00[EUR][1000 genomes]
rs34160508	0.82[GIH][hapmap]
rs34314536	1.00[EUR][1000 genomes]
rs34402397	1.00[EUR][1000 genomes]
rs41300737	1.00[EUR][1000 genomes]
rs41303946	1.00[EUR][1000 genomes]
rs473706	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs493380	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986911	1.00[EUR][1000 genomes]
rs56337765	1.00[EUR][1000 genomes]
rs58679015	1.00[EUR][1000 genomes]
rs58750403	1.00[EUR][1000 genomes]
rs73408563	1.00[EUR][1000 genomes]
rs73408565	1.00[EUR][1000 genomes]
rs73711661	1.00[EUR][1000 genomes]
rs73711662	1.00[EUR][1000 genomes]
rs73711666	1.00[EUR][1000 genomes]
rs73711671	1.00[EUR][1000 genomes]
rs73711677	1.00[EUR][1000 genomes]
rs73711681	1.00[EUR][1000 genomes]
rs73711684	1.00[EUR][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	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv970558	chr7:99358519-99389907	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2687103	AP4M1	cis	lymphoblastoid	seeQTL
rs2687103	COPS6	cis	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99379800-99387000	Enhancers	Fetal Intestine Small	intestine
2	chr7:99381800-99385200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:99382000-99386000	Weak transcription	Psoas Muscle	Psoas
4	chr7:99382400-99386200	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:99382800-99386400	Weak transcription	Liver	Liver
6	chr7:99383000-99386400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:99383200-99385400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:99383400-99390000	Enhancers	HMEC	breast
9	chr7:99383600-99385000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:99383600-99385200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:99383600-99385200	Enhancers	NHEK	skin
12	chr7:99383600-99386800	Enhancers	Fetal Intestine Large	intestine
13	chr7:99383600-99390000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:99384000-99385400	Weak transcription	Pancreas	Pancrea
15	chr7:99384000-99386200	Enhancers	Stomach Mucosa	stomach
16	chr7:99384200-99388200	Weak transcription	Esophagus	oesophagus
17	chr7:99384400-99386800	Enhancers	Primary T cells from cord blood	blood
18	chr7:99384400-99386800	Enhancers	HepG2	liver
19	chr7:99384800-99385000	Enhancers	K562	blood
20	chr7:99384800-99385800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links