Variant report

Variant	rs73331823
Chromosome Location	chr5:127221039-127221040
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127218363..127221289-chr5:127269313..127271970,2	MCF-7	breast:
2	chr5:127219412..127221913-chr5:127243574..127245487,2	MCF-7	breast:
3	chr5:127212385..127215145-chr5:127219355..127222619,3	MCF-7	breast:
4	chr5:127219396..127221268-chr5:127372444..127374595,2	MCF-7	breast:
5	chr5:127220419..127223982-chr5:127224683..127227982,4	MCF-7	breast:
6	chr5:127218008..127223291-chr5:127416858..127420836,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000230561	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58138119	1.00[AMR][1000 genomes]
rs59820375	1.00[AMR][1000 genomes]
rs73331851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347003	1.00[AMR][1000 genomes]
rs73347010	1.00[AMR][1000 genomes]
rs73347046	1.00[AMR][1000 genomes]
rs73347053	1.00[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127214400-127221800	Weak transcription	Left Ventricle	heart
2	chr5:127217200-127221400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr5:127218400-127223200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:127220200-127221200	Enhancers	Brain Substantia Nigra	brain
5	chr5:127220200-127221200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:127220200-127221800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:127220200-127222000	Enhancers	Psoas Muscle	Psoas
8	chr5:127220200-127222200	Enhancers	Fetal Muscle Leg	muscle
9	chr5:127220200-127222200	Enhancers	HSMMtube	muscle
10	chr5:127220200-127222400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:127220200-127222600	Enhancers	Fetal Intestine Large	intestine
12	chr5:127220200-127222600	Enhancers	Fetal Intestine Small	intestine
13	chr5:127220200-127222800	Enhancers	HUVEC	blood vessel
14	chr5:127220400-127222200	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:127220600-127221200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:127220600-127221200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:127220600-127221200	Flanking Active TSS	A549	lung
18	chr5:127220800-127221200	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr5:127220800-127221200	Enhancers	Brain Anterior Caudate	brain
20	chr5:127220800-127221200	Enhancers	Brain Hippocampus Middle	brain
21	chr5:127220800-127221200	Enhancers	Fetal Stomach	stomach
22	chr5:127220800-127221200	Enhancers	Ovary	ovary
23	chr5:127220800-127221600	Enhancers	HSMM	muscle
24	chr5:127220800-127222600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127220800-127222600	Enhancers	Fetal Lung	lung
26	chr5:127221000-127221200	Flanking Active TSS	Stomach Mucosa	stomach
27	chr5:127221000-127222200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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