Variant report

Variant	rs2097806
Chromosome Location	chr7:120587502-120587503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120510074..120512878-chr7:120587345..120588898,2	K562	blood:
2	chr7:120587418..120589736-chr7:120968614..120970318,2	K562	blood:
3	chr7:120582973..120587570-chr7:120719112..120724083,6	K562	blood:
4	chr7:120584320..120588457-chr7:120588474..120592121,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction
ENSG00000002745	Chromatin interaction
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10225453	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10252911	0.86[CHB][hapmap]
rs10266755	0.84[CHB][hapmap]
rs10274689	0.86[CHB][hapmap]
rs10279837	0.82[AFR][1000 genomes]
rs10953922	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1557857	0.84[EUR][1000 genomes]
rs17142995	0.80[CEU][hapmap];0.86[CHB][hapmap]
rs17143001	0.86[CEU][hapmap]
rs17143009	0.86[CEU][hapmap]
rs1859318	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1859319	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2040762	0.84[AFR][1000 genomes]
rs2074577	0.81[YRI][hapmap]
rs2248890	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs2524951	0.82[AFR][1000 genomes]
rs2525705	0.90[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2525709	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2525710	0.85[CEU][hapmap]
rs2525712	0.83[YRI][hapmap]
rs2525743	0.84[EUR][1000 genomes]
rs2721330	0.86[CEU][hapmap]
rs2721332	0.81[CEU][hapmap]
rs2721339	0.85[AFR][1000 genomes]
rs2721341	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs2721346	0.80[CEU][hapmap]
rs2721347	0.95[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap]
rs2721354	1.00[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2721364	0.83[AFR][1000 genomes]
rs3779386	0.86[CHB][hapmap]
rs3823859	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs3823861	0.81[CHB][hapmap]
rs41624	0.81[CHB][hapmap]
rs41629	0.81[CHB][hapmap]
rs41632	0.81[CHB][hapmap]
rs61452531	0.81[AFR][1000 genomes]
rs6466759	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs6466760	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs6466761	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6466762	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs6953454	0.82[CHB][hapmap]
rs6959328	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs6971854	0.82[CHB][hapmap]
rs714259	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs745167	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7781985	0.81[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap]
rs996903	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv967472	chr7:120581340-120591647	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2097806	TSPAN12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120582200-120588600	Weak transcription	K562	blood
2	chr7:120585200-120589400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:120585200-120589400	Weak transcription	Hela-S3	cervix
4	chr7:120585400-120589400	Weak transcription	HUVEC	blood vessel
5	chr7:120585600-120589600	Weak transcription	Liver	Liver
6	chr7:120585600-120589600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:120585600-120589600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:120585600-120589600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:120585600-120589800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:120586200-120589400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:120586400-120589800	Weak transcription	Colon Smooth Muscle	Colon

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