Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209839113..209843084-chr1:209844641..209848547,5	K562	blood:
2	chr1:209839849..209842808-chr1:209998305..210001255,2	K562	blood:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10779511	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11576775	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11577968	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11578613	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815548	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844486	0.88[MEX][hapmap]
rs56948998	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58635984	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73087477	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs846912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs864028	FCAMR	cis	cerebellum	SCAN
rs864028	C1orf74	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209828400-209844000	Weak transcription	Left Ventricle	heart
2	chr1:209829800-209842800	Weak transcription	Psoas Muscle	Psoas
3	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
4	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
5	chr1:209833800-209843600	Weak transcription	NHEK	skin
6	chr1:209836800-209841200	Weak transcription	HMEC	breast
7	chr1:209840200-209841600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:209840200-209841600	Enhancers	Fetal Intestine Large	intestine
9	chr1:209840200-209842600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:209840400-209841400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:209840400-209841400	Enhancers	Hela-S3	cervix
12	chr1:209840400-209841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:209840400-209841600	Enhancers	Liver	Liver
14	chr1:209840600-209841600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:209840800-209841200	Enhancers	Fetal Intestine Small	intestine
16	chr1:209840800-209841400	Enhancers	NH-A	brain
17	chr1:209840800-209841600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:209841000-209841400	Enhancers	Fetal Heart	heart
19	chr1:209841000-209841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:209841000-209841600	Enhancers	Adipose Nuclei	Adipose
21	chr1:209841000-209841800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr1:209841000-209843000	Enhancers	K562	blood

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