Variant report

Variant	rs12097611
Chromosome Location	chr1:209834210-209834211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209828657..209830867-chr1:209832436..209835297,2	K562	blood:
2	chr1:209832927..209836405-chr1:209837172..209839938,4	K562	blood:
3	chr1:209832927..209835727-chr1:209837628..209839531,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3820161	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4393158	1.00[AFR][1000 genomes]
rs6540547	1.00[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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209823000-209836200	Weak transcription	Ovary	ovary
2	chr1:209828400-209844000	Weak transcription	Left Ventricle	heart
3	chr1:209829800-209842800	Weak transcription	Psoas Muscle	Psoas
4	chr1:209830800-209835800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:209831000-209835800	Weak transcription	HepG2	liver
6	chr1:209831200-209835600	Weak transcription	Stomach Mucosa	stomach
7	chr1:209831200-209836000	Weak transcription	Pancreas	Pancrea
8	chr1:209831200-209836000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:209831200-209836200	Weak transcription	NH-A	brain
10	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
11	chr1:209832000-209834800	Enhancers	HMEC	breast
12	chr1:209832200-209836400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:209832400-209834400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:209832400-209834800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:209832400-209835600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:209832400-209835800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
18	chr1:209833000-209836000	Enhancers	Liver	Liver
19	chr1:209833200-209834800	Enhancers	Hela-S3	cervix
20	chr1:209833400-209834400	Enhancers	Fetal Lung	lung
21	chr1:209833400-209834400	Enhancers	Small Intestine	intestine
22	chr1:209833600-209835800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:209833600-209836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:209833600-209836000	Weak transcription	Osteobl	bone
25	chr1:209833600-209836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:209833800-209835800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:209833800-209839000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:209833800-209843600	Weak transcription	NHEK	skin
29	chr1:209834000-209834400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:209834000-209835000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:209834000-209836200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:209834000-209836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:209834200-209834400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr1:209834200-209836200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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