Variant report

Variant	rs72980324
Chromosome Location	chr3:133671859-133671860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:133671179-133671979	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133664544..133666075-chr3:133669616..133672285,2	MCF-7	breast:

Variant related genes	Relation type
SLCO2A1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4643708	0.84[AFR][1000 genomes]
rs59416045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59935979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978388	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978391	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978396	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978398	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980351	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	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133660800-133676400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:133663800-133694800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:133664000-133676000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:133664000-133705400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:133664800-133713000	Weak transcription	Gastric	stomach
6	chr3:133665000-133673400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:133667600-133676200	Weak transcription	Psoas Muscle	Psoas
8	chr3:133668400-133674800	Weak transcription	Right Ventricle	heart
9	chr3:133668400-133675200	Weak transcription	Right Atrium	heart
10	chr3:133668400-133685600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:133668600-133672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:133668600-133674800	Weak transcription	HUVEC	blood vessel
13	chr3:133668600-133675200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:133668800-133674200	Weak transcription	Brain Germinal Matrix	brain
15	chr3:133670200-133680200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:133670600-133687000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:133670800-133674000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:133671200-133672400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:133671200-133674000	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:133671200-133674800	Weak transcription	Fetal Stomach	stomach
21	chr3:133671400-133673400	Weak transcription	Spleen	Spleen
22	chr3:133671400-133674000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:133671400-133674600	Weak transcription	Lung	lung

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