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:22)

rs_ID	r²[population]
rs10082248	1.00[CEU][hapmap]
rs10863780	1.00[EUR][1000 genomes]
rs12561766	1.00[CEU][hapmap]
rs17015078	1.00[CEU][hapmap]
rs1883442	0.90[EUR][1000 genomes]
rs2038053	1.00[CEU][hapmap]
rs2236902	1.00[CEU][hapmap]
rs2272866	1.00[CEU][hapmap]
rs2282740	1.00[CEU][hapmap]
rs2298930	1.00[CEU][hapmap]
rs4329516	1.00[CEU][hapmap]
rs4393158	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4545339	1.00[CEU][hapmap]
rs4844487	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4844893	1.00[CEU][hapmap]
rs4844894	1.00[CEU][hapmap]
rs6540547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694238	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs701950	1.00[TSI][hapmap]
rs7528642	1.00[CEU][hapmap]
rs846908	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs932375	0.89[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

No data

Chromatin state (count:21 , 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	chr1:209840200-209841600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:209840200-209841600	Enhancers	Fetal Intestine Large	intestine
8	chr1:209840200-209842600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:209840400-209841400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209840400-209841400	Enhancers	Hela-S3	cervix
11	chr1:209840400-209841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:209840400-209841600	Enhancers	Liver	Liver
13	chr1:209840600-209841600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:209840800-209841400	Enhancers	NH-A	brain
15	chr1:209840800-209841600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:209841000-209841400	Enhancers	Fetal Heart	heart
17	chr1:209841000-209841600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:209841000-209841600	Enhancers	Adipose Nuclei	Adipose
19	chr1:209841000-209841800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr1:209841000-209843000	Enhancers	K562	blood
21	chr1:209841200-209841600	Enhancers	HMEC	breast

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