Variant report

Variant	rs10274324
Chromosome Location	chr7:120899341-120899342
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120896920..120899845-chr7:120902784..120905694,5	K562	blood:
2	chr7:120892571..120895698-chr7:120897763..120899979,3	K562	blood:
3	chr7:120896920..120901012-chr7:120903839..120905762,5	K562	blood:
4	chr7:120892571..120894403-chr7:120897763..120901002,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10225539	1.00[CEU][hapmap]
rs10229198	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230185	1.00[CEU][hapmap]
rs10230310	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10232353	1.00[CEU][hapmap]
rs10244109	1.00[CEU][hapmap]
rs10252157	1.00[CEU][hapmap]
rs10259598	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260002	1.00[CEU][hapmap]
rs10260631	1.00[CEU][hapmap]
rs10279122	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13438127	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2691032	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs35793694	0.87[EUR][1000 genomes]
rs57977421	0.96[EUR][1000 genomes]
rs6951173	1.00[CEU][hapmap]
rs6965592	1.00[CEU][hapmap]
rs7808138	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs798908	0.90[EUR][1000 genomes]
rs798909	0.90[EUR][1000 genomes]
rs798913	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs798915	1.00[CEU][hapmap]
rs798917	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs798918	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv889122	chr7:120860912-120906744	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10274324	TSPAN12	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120886600-120910600	Weak transcription	Fetal Kidney	kidney
3	chr7:120887200-120906400	Weak transcription	HSMMtube	muscle
4	chr7:120888400-120901600	Weak transcription	Left Ventricle	heart
5	chr7:120888400-120906200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:120888400-120906400	Weak transcription	NHLF	lung
7	chr7:120888400-120910000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:120888600-120905600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:120888600-120905600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:120888600-120906400	Weak transcription	Aorta	Aorta
11	chr7:120888600-120907800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:120888600-120907800	Weak transcription	Right Ventricle	heart
13	chr7:120888600-120908000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:120888600-120908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:120889600-120902000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:120889600-120906200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:120889600-120906400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:120889600-120913600	Weak transcription	NHDF-Ad	bronchial
20	chr7:120889800-120901400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:120893400-120916600	Strong transcription	K562	blood
22	chr7:120893400-120916800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:120896200-120899400	Strong transcription	HSMM	muscle
25	chr7:120896800-120900000	Weak transcription	Ovary	ovary
26	chr7:120897600-120917200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:120898600-120904200	Strong transcription	Liver	Liver
28	chr7:120899200-120899400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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