Variant report

Variant	rs13231854
Chromosome Location	chr7:120445134-120445135
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120444604..120449026-chr7:120452675..120456263,4	K562	blood:
2	chr7:120440526..120443320-chr7:120444759..120447483,2	MCF-7	breast:
3	chr7:120439283..120443487-chr7:120444760..120448518,4	K562	blood:
4	chr7:120443378..120446021-chr7:120589576..120591125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10225453	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10266755	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274689	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10279837	0.85[ASN][1000 genomes]
rs11982493	0.85[ASN][1000 genomes]
rs12669167	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17142995	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2107275	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721343	0.83[ASN][1000 genomes]
rs2721347	0.85[ASN][1000 genomes]
rs3735467	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823859	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3823861	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41611	0.92[ASN][1000 genomes]
rs41619	0.82[EUR][1000 genomes]
rs41620	0.83[EUR][1000 genomes]
rs41621	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41624	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41627	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41628	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41629	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41631	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41632	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4445165	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55855220	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466759	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466760	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466761	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466762	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6953454	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6958947	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6959328	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6961583	0.82[ASN][1000 genomes]
rs6964667	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964786	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73427866	0.86[ASN][1000 genomes]
rs7781985	0.88[ASN][1000 genomes]
rs7805211	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7805733	0.80[EUR][1000 genomes]
rs996903	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13231854	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120423000-120449200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:120425800-120454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
5	chr7:120429200-120445600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:120432600-120453800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:120432600-120455400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:120432600-120468400	Weak transcription	Lung	lung
10	chr7:120433200-120446000	Weak transcription	Fetal Kidney	kidney
11	chr7:120436200-120445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:120438000-120445800	Weak transcription	Liver	Liver
13	chr7:120439000-120445600	Weak transcription	Fetal Heart	heart
14	chr7:120439200-120457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:120441200-120452600	Weak transcription	Fetal Intestine Small	intestine
17	chr7:120441400-120446400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:120442000-120449600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:120442600-120457400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:120443200-120446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:120443400-120448600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:120443600-120446200	Weak transcription	HUVEC	blood vessel
24	chr7:120443800-120446200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:120444000-120457400	Weak transcription	Adipose Nuclei	Adipose
26	chr7:120444600-120445800	Strong transcription	Fetal Intestine Large	intestine
27	chr7:120444600-120445800	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:120444600-120446200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:120444800-120445600	Strong transcription	Left Ventricle	heart

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