Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:93408180..93410654-chr1:93478958..93480924,2	K562	blood:
2	chr1:93477075..93479957-chr1:93501163..93503966,2	K562	blood:
3	chr1:93297396..93299866-chr1:93478286..93480481,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10874754	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11164865	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11590314	0.85[EUR][1000 genomes]
rs12084977	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12091867	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12092136	0.96[EUR][1000 genomes]
rs12094815	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2485031	0.98[EUR][1000 genomes]
rs2785601	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs491699	0.98[EUR][1000 genomes]
rs569268	0.94[EUR][1000 genomes]
rs59284207	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61523335	0.98[EUR][1000 genomes]
rs6657919	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6686863	0.98[EUR][1000 genomes]
rs6688632	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74103530	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7536849	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11164862	TMED5	cis	parietal	SCAN
rs11164862	KIAA1107	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93474200-93490600	Weak transcription	K562	blood
2	chr1:93478000-93479600	Enhancers	GM12878-XiMat	blood
3	chr1:93478200-93481400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:93478200-93481600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:93478400-93479600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:93478400-93479600	Weak transcription	Fetal Thymus	thymus
8	chr1:93478800-93480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:93478800-93480400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:93478800-93480800	Enhancers	Psoas Muscle	Psoas
11	chr1:93478800-93482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:93478800-93482400	Enhancers	HSMMtube	muscle
13	chr1:93479000-93479800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:93479000-93480400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:93479000-93481400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:93479000-93482200	Enhancers	HSMM	muscle
17	chr1:93479200-93480200	Enhancers	Adipose Nuclei	Adipose
18	chr1:93479200-93480800	Weak transcription	NHDF-Ad	bronchial
19	chr1:93479200-93481400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:93479400-93479600	Enhancers	Right Atrium	heart
21	chr1:93479400-93479800	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:93479400-93480000	Enhancers	HepG2	liver

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