Variant report

Variant	rs1118142
Chromosome Location	chr7:120648485-120648486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120646087..120648520-chr7:120680329..120682630,2	K562	blood:
2	chr7:120644958..120648520-chr7:120680179..120682620,4	K562	blood:
3	chr7:120646710..120649505-chr7:120714634..120717834,3	K562	blood:
4	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
5	chr7:120616082..120617788-chr7:120647461..120650370,2	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10245811	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10245939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10257314	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10277935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1080807	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10953923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12706305	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706306	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17535702	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058501	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944789	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6949989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6956237	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6958635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960415	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782014	0.82[CHB][hapmap]
rs7782552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802665	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv12328	chr7:120647816-120648879	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1118142	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	chr7:120646000-120648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:120646000-120649400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr7:120646000-120650600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:120646800-120652600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
7	chr7:120647200-120651000	Weak transcription	NHDF-Ad	bronchial
8	chr7:120647200-120651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:120647200-120652000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
11	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:120647400-120648800	Weak transcription	Aorta	Aorta
13	chr7:120647400-120650600	Weak transcription	HSMM	muscle
14	chr7:120647400-120652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:120647400-120652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:120647600-120649000	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:120647600-120656200	Weak transcription	NHLF	lung
19	chr7:120647800-120649000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:120647800-120650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:120648000-120648800	Weak transcription	Psoas Muscle	Psoas
23	chr7:120648000-120649000	Weak transcription	Left Ventricle	heart
24	chr7:120648000-120651000	Genic enhancers	K562	blood
25	chr7:120648000-120651600	Weak transcription	Fetal Lung	lung
26	chr7:120648000-120652000	Weak transcription	Liver	Liver
27	chr7:120648000-120652400	Weak transcription	HSMMtube	muscle
28	chr7:120648000-120653000	Weak transcription	Fetal Stomach	stomach
29	chr7:120648000-120653000	Weak transcription	Spleen	Spleen
30	chr7:120648000-120655200	Weak transcription	Ovary	ovary
31	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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