Variant report

Variant	rs12721611
Chromosome Location	chr3:119530546-119530547
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	chr3:119530112..119533112-chr3:119811901..119815932,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12721616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830442	1.00[AMR][1000 genomes]
rs72963177	1.00[AMR][1000 genomes]
rs72963183	1.00[AMR][1000 genomes]
rs72963185	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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr3:119516800-119534600	Weak transcription	HepG2	liver
2	chr3:119525000-119532400	Weak transcription	Small Intestine	intestine
3	chr3:119528200-119533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:119529200-119533200	Strong transcription	Liver	Liver
5	chr3:119529400-119530600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:119529400-119531600	Weak transcription	Right Ventricle	heart
7	chr3:119529400-119531800	Weak transcription	Left Ventricle	heart
8	chr3:119529400-119532200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr3:119529400-119533600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:119529400-119533600	Weak transcription	Colonic Mucosa	Colon
11	chr3:119529400-119535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:119529400-119537000	Strong transcription	Fetal Intestine Large	intestine
13	chr3:119529400-119537800	Strong transcription	Fetal Intestine Small	intestine
14	chr3:119529400-119544000	Weak transcription	Right Atrium	heart
15	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:119529600-119531200	Weak transcription	Fetal Heart	heart
17	chr3:119529600-119536000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:119529600-119543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
20	chr3:119529800-119543600	Weak transcription	GM12878-XiMat	blood
21	chr3:119530200-119542800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:119530400-119532000	Strong transcription	Rectal Mucosa Donor 31	rectum

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