Variant report

Variant	rs12700756
Chromosome Location	chr7:26768482-26768483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1024454	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10255249	0.84[AFR][1000 genomes]
rs10807834	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10951145	0.82[EUR][1000 genomes]
rs11764558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11770043	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11770344	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12668948	0.81[EUR][1000 genomes]
rs12700754	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12700755	0.82[EUR][1000 genomes]
rs12700757	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12700758	0.81[EUR][1000 genomes]
rs12700759	0.83[AFR][1000 genomes]
rs12700762	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1548022	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1548478	0.82[EUR][1000 genomes]
rs1548479	0.81[EUR][1000 genomes]
rs1548480	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023821	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212845	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212851	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212854	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282906	0.81[EUR][1000 genomes]
rs2299101	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299102	0.81[EUR][1000 genomes]
rs2391359	0.81[EUR][1000 genomes]
rs2893256	0.86[ASN][1000 genomes]
rs3801872	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4719879	0.82[EUR][1000 genomes]
rs4722628	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4722631	0.82[EUR][1000 genomes]
rs4722632	0.92[ASN][1000 genomes]
rs4722637	0.83[ASN][1000 genomes]
rs484426	0.81[AMR][1000 genomes]
rs498561	0.81[AMR][1000 genomes]
rs5012512	0.83[AFR][1000 genomes]
rs58988613	0.82[EUR][1000 genomes]
rs6461964	0.84[AFR][1000 genomes]
rs6461971	0.83[AFR][1000 genomes]
rs687254	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs687603	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7784257	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7795313	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7802771	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7802852	0.82[EUR][1000 genomes]
rs7810179	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7811764	0.81[EUR][1000 genomes]
rs934410	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018125	chr7:26745074-26789814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12700756	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26731800-26779200	Weak transcription	Spleen	Spleen
2	chr7:26740400-26782400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:26745000-26780800	Weak transcription	Aorta	Aorta
4	chr7:26746200-26780600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:26746600-26777400	Weak transcription	Lung	lung
6	chr7:26749200-26779600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:26749600-26781000	Weak transcription	NHEK	skin
8	chr7:26750400-26812000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:26753600-26782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:26754200-26780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:26754400-26782400	Weak transcription	Fetal Stomach	stomach
12	chr7:26754600-26780200	Weak transcription	NHLF	lung
13	chr7:26754800-26777000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:26754800-26783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:26755600-26782400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:26756200-26776800	Weak transcription	Dnd41	blood
17	chr7:26756600-26780600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:26758400-26780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:26759400-26775800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:26763000-26777600	Weak transcription	Fetal Lung	lung
21	chr7:26763000-26780600	Weak transcription	Primary T cells from cord blood	blood
22	chr7:26763200-26769600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:26763200-26776600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:26763800-26776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:26763800-26780600	Weak transcription	HMEC	breast
26	chr7:26765000-26777000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:26765000-26778400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:26765800-26774600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:26766200-26771800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:26766400-26773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26766400-26776800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:26766600-26780600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:26767000-26769200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:26767400-26769200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:26767400-26780800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:26768200-26768800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:26768200-26770000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:26768400-26768800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:26768400-26768800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:26768400-26769800	Enhancers	Primary neutrophils fromperipheralblood	blood

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