Variant report

Variant	rs72908291
Chromosome Location	chr2:173786274-173786275
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173783814..173786424-chr2:173786483..173789177,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10497388	0.82[AMR][1000 genomes]
rs10497389	0.82[AMR][1000 genomes]
rs12467354	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12619862	0.82[AMR][1000 genomes]
rs1446978	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530591	0.90[AMR][1000 genomes]
rs16861089	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17707776	0.82[AMR][1000 genomes]
rs17708115	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17759303	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62174630	0.82[AMR][1000 genomes]
rs62174645	0.82[AMR][1000 genomes]
rs72896055	0.82[AMR][1000 genomes]
rs72896056	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72908293	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768030	0.90[AMR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173764400-173792600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173769200-173792400	Weak transcription	Fetal Kidney	kidney
3	chr2:173777200-173788800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:173782400-173792800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173782600-173796000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:173783000-173786800	Weak transcription	Fetal Heart	heart
7	chr2:173783000-173787200	Weak transcription	HSMMtube	muscle
8	chr2:173783200-173786400	Weak transcription	Fetal Stomach	stomach
9	chr2:173783400-173786800	Enhancers	GM12878-XiMat	blood
10	chr2:173784200-173788000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:173785200-173786800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:173785800-173786400	Enhancers	Fetal Intestine Large	intestine
13	chr2:173785800-173786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:173785800-173787600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:173786000-173786400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:173786000-173786400	Enhancers	Fetal Thymus	thymus
17	chr2:173786000-173786600	Enhancers	Pancreas	Pancrea
18	chr2:173786000-173786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:173786000-173786800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:173786000-173786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:173786000-173786800	Enhancers	NHEK	skin
22	chr2:173786200-173786400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:173786200-173786800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:173786200-173786800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:173786200-173786800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:173786200-173786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:173786200-173786800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:173786200-173786800	Enhancers	Brain Anterior Caudate	brain
29	chr2:173786200-173786800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:173786200-173786800	Enhancers	A549	lung
31	chr2:173786200-173786800	Enhancers	NH-A	brain
32	chr2:173786200-173786800	Enhancers	NHLF	lung
33	chr2:173786200-173787200	Enhancers	HUVEC	blood vessel
34	chr2:173786200-173787400	Enhancers	Hela-S3	cervix
35	chr2:173786200-173792400	Weak transcription	Right Atrium	heart

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