Variant report

Variant	rs1821412
Chromosome Location	chr2:179193241-179193242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179186226..179189549-chr2:179191387..179194072,3	K562	blood:
2	chr2:179183577..179186418-chr2:179191406..179193848,2	MCF-7	breast:
3	chr2:179192053..179195565-chr2:179199855..179202518,3	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12618595	0.84[AFR][1000 genomes]
rs1368903	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368907	1.00[ASN][1000 genomes]
rs16866260	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866263	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866274	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836205	1.00[ASN][1000 genomes]
rs2366164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032920	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633450	1.00[ASN][1000 genomes]
rs55981329	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725937	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731845	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585689	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
2	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
4	chr2:179185400-179198200	Weak transcription	Fetal Lung	lung
5	chr2:179186000-179195000	Weak transcription	Liver	Liver
6	chr2:179188800-179195000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:179189000-179193400	Weak transcription	K562	blood
8	chr2:179189200-179196800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:179189200-179201200	Weak transcription	Ovary	ovary
10	chr2:179189400-179201200	Weak transcription	Fetal Brain Male	brain
11	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:179190600-179195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:179191800-179194000	Enhancers	HSMM	muscle
14	chr2:179192000-179193600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:179192200-179193400	Enhancers	Fetal Intestine Small	intestine
16	chr2:179192400-179193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:179192600-179198600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:179192600-179200600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:179192800-179193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:179192800-179193400	Enhancers	Osteobl	bone
21	chr2:179193000-179193400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:179193000-179195200	Weak transcription	Brain Angular Gyrus	brain
23	chr2:179193000-179195200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:179193000-179196200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:179193000-179201400	Weak transcription	NH-A	brain
26	chr2:179193000-179201800	Weak transcription	Fetal Kidney	kidney
27	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:179193200-179194800	Weak transcription	HepG2	liver
29	chr2:179193200-179199800	Enhancers	HSMMtube	muscle
30	chr2:179193200-179201000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:179193200-179201400	Weak transcription	Fetal Brain Female	brain
32	chr2:179193200-179210400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose

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