Variant report

Variant	rs212845
Chromosome Location	chr7:26717527-26717528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26710914..26713828-chr7:26716140..26720303,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1024454	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11764558	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11770344	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12668948	0.80[EUR][1000 genomes]
rs12700754	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12700756	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12700757	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12700762	0.94[EUR][1000 genomes]
rs13186	0.82[EUR][1000 genomes]
rs1548022	0.94[EUR][1000 genomes]
rs1548480	0.93[EUR][1000 genomes]
rs2023821	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212837	0.84[ASN][1000 genomes]
rs212840	0.81[EUR][1000 genomes]
rs212842	0.82[EUR][1000 genomes]
rs212844	0.82[EUR][1000 genomes]
rs212846	0.83[EUR][1000 genomes]
rs212847	0.82[EUR][1000 genomes]
rs212849	0.81[EUR][1000 genomes]
rs212851	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212852	0.80[EUR][1000 genomes]
rs212853	0.82[EUR][1000 genomes]
rs212854	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212855	0.82[EUR][1000 genomes]
rs212858	0.80[EUR][1000 genomes]
rs2237328	0.82[EUR][1000 genomes]
rs2282906	0.81[EUR][1000 genomes]
rs2299101	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299102	0.81[EUR][1000 genomes]
rs3801872	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4722628	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4722632	0.85[ASN][1000 genomes]
rs757129	0.85[ASN][1000 genomes]
rs7784257	0.94[EUR][1000 genomes]
rs7788165	0.82[EUR][1000 genomes]
rs7795313	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802771	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810179	0.93[EUR][1000 genomes]
rs7811764	0.80[EUR][1000 genomes]

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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs212845	SKAP2	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26707200-26721800	Weak transcription	Fetal Lung	lung
3	chr7:26707600-26719000	Weak transcription	Fetal Kidney	kidney
4	chr7:26708800-26725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:26714400-26719200	Strong transcription	Primary B cells from cord blood	blood
6	chr7:26715000-26731200	Weak transcription	Lung	lung
7	chr7:26715600-26718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:26715600-26724600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:26715600-26725200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:26715600-26725200	Weak transcription	NHEK	skin
11	chr7:26715600-26725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:26715600-26726000	Weak transcription	Osteobl	bone
13	chr7:26715600-26726200	Weak transcription	HMEC	breast
14	chr7:26716400-26726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:26716400-26728200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:26716600-26718200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:26716800-26718600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:26716800-26723000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:26716800-26729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:26717000-26720400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:26717400-26718000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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