Variant report

Variant	rs10258025
Chromosome Location	chr7:120651186-120651187
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:120651104-120651234	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120649401..120651569-chr7:120679058..120681900,2	K562	blood:
2	chr7:120650230..120651746-chr7:120654454..120656718,2	MCF-7	breast:

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10229719	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11363	0.83[EUR][1000 genomes]
rs12672149	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13881	0.82[EUR][1000 genomes]
rs193727	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2013083	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2013087	0.81[AMR][1000 genomes]
rs2074576	0.81[EUR][1000 genomes]
rs2215786	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2215789	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2525711	0.81[EUR][1000 genomes]
rs2525714	0.81[EUR][1000 genomes]
rs2525716	0.81[EUR][1000 genomes]
rs2525717	0.81[EUR][1000 genomes]
rs2525718	0.81[EUR][1000 genomes]
rs2525720	0.81[EUR][1000 genomes]
rs2525722	0.81[EUR][1000 genomes]
rs2525723	0.81[EUR][1000 genomes]
rs2525724	0.81[EUR][1000 genomes]
rs2525726	0.81[EUR][1000 genomes]
rs2525728	0.83[EUR][1000 genomes]
rs2525731	0.81[EUR][1000 genomes]
rs2525732	0.84[EUR][1000 genomes]
rs2525733	0.84[EUR][1000 genomes]
rs2525734	0.84[EUR][1000 genomes]
rs2525735	0.93[EUR][1000 genomes]
rs2525738	0.96[EUR][1000 genomes]
rs2525739	0.96[EUR][1000 genomes]
rs2525740	0.96[EUR][1000 genomes]
rs2525741	0.81[EUR][1000 genomes]
rs2721351	0.81[EUR][1000 genomes]
rs2721358	0.81[EUR][1000 genomes]
rs2721359	0.96[EUR][1000 genomes]
rs2721361	0.96[EUR][1000 genomes]
rs2721363	0.81[EUR][1000 genomes]
rs2721366	0.83[EUR][1000 genomes]
rs2721368	0.81[EUR][1000 genomes]
rs2896299	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3944026	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41688	0.81[EUR][1000 genomes]
rs41689	0.81[EUR][1000 genomes]
rs41691	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41692	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41693	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41694	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41695	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41697	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727915	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730985	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730987	0.81[AMR][1000 genomes]
rs6966297	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6973457	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7789501	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7808535	0.85[EUR][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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10258025	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120646800-120652600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
4	chr7:120647200-120651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:120647200-120652000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
7	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:120647400-120652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:120647400-120652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:120647600-120656200	Weak transcription	NHLF	lung
12	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:120648000-120651600	Weak transcription	Fetal Lung	lung
14	chr7:120648000-120652000	Weak transcription	Liver	Liver
15	chr7:120648000-120652400	Weak transcription	HSMMtube	muscle
16	chr7:120648000-120653000	Weak transcription	Fetal Stomach	stomach
17	chr7:120648000-120653000	Weak transcription	Spleen	Spleen
18	chr7:120648000-120655200	Weak transcription	Ovary	ovary
19	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:120648600-120652000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:120649400-120652200	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:120649400-120652400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:120649400-120652600	Weak transcription	Aorta	Aorta
26	chr7:120649400-120652600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
28	chr7:120649600-120652600	Weak transcription	Psoas Muscle	Psoas
29	chr7:120650600-120651800	Strong transcription	HSMM	muscle
30	chr7:120650600-120652000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:120650800-120651200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:120651000-120651400	Enhancers	NHDF-Ad	bronchial
33	chr7:120651000-120651600	Weak transcription	K562	blood

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