Variant report

Variant	rs4671989
Chromosome Location	chr2:55123160-55123161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55122046..55124252-chr2:55124464..55126303,3	MCF-7	breast:
2	chr2:55122602..55124737-chr2:55161405..55163876,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10171653	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12467381	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17046477	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17046514	0.86[CHB][hapmap]
rs2304687	0.80[ASN][1000 genomes]
rs34121514	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36126551	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671987	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671988	0.94[EUR][1000 genomes]
rs4671990	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671991	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671993	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs60808665	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6707572	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67299431	0.90[EUR][1000 genomes]
rs919669	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:55106600-55124000	Weak transcription	Spleen	Spleen
4	chr2:55109200-55126800	Weak transcription	Brain Angular Gyrus	brain
5	chr2:55109200-55127600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:55119000-55124600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:55119000-55124600	Weak transcription	Fetal Brain Female	brain
8	chr2:55119400-55124600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:55120400-55130200	Weak transcription	Hela-S3	cervix
10	chr2:55122000-55130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55122400-55123200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr2:55122400-55123200	ZNF genes & repeats	HepG2	liver
13	chr2:55122400-55123400	ZNF genes & repeats	Brain Hippocampus Middle	brain
14	chr2:55122600-55123200	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr2:55122600-55123400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:55122800-55125200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:55123000-55123600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:55123000-55124000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:55123000-55125000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:55123000-55126800	Weak transcription	HSMMtube	muscle
21	chr2:55123000-55127400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:55123000-55127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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