Variant report

Variant	rs72970419
Chromosome Location	chr4:106872257-106872258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106871716..106874028-chr4:106885869..106887755,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10018449	1.00[AMR][1000 genomes]
rs10020535	1.00[AMR][1000 genomes]
rs28464982	1.00[AMR][1000 genomes]
rs28547256	1.00[AMR][1000 genomes]
rs58120447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58185526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58658784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832565	0.95[AFR][1000 genomes]
rs6857305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968685	0.95[AFR][1000 genomes]
rs72968694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836905	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994835	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106831600-106878200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:106843600-106888400	Weak transcription	Pancreas	Pancrea
3	chr4:106853000-106879000	Weak transcription	Fetal Stomach	stomach
4	chr4:106854400-106886800	Weak transcription	GM12878-XiMat	blood
5	chr4:106864400-106877200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:106864600-106878200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:106864800-106886600	Weak transcription	Fetal Kidney	kidney
8	chr4:106866400-106884600	Weak transcription	HSMM	muscle
9	chr4:106867800-106884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:106868200-106877400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:106868200-106886600	Weak transcription	Fetal Lung	lung
12	chr4:106868400-106877400	Weak transcription	Fetal Heart	heart
13	chr4:106868400-106892000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:106871600-106872400	Genic enhancers	Fetal Intestine Small	intestine
15	chr4:106871800-106872400	Genic enhancers	Fetal Intestine Large	intestine
16	chr4:106872000-106874200	Enhancers	HSMMtube	muscle
17	chr4:106872200-106872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:106872200-106872800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:106872200-106872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:106872200-106873000	Active TSS	Fetal Muscle Trunk	muscle
21	chr4:106872200-106874000	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:106872200-106879600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:106872200-106884600	Weak transcription	Aorta	Aorta
24	chr4:106872200-106888400	Weak transcription	Lung	lung

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