Variant report

Variant	rs72978391
Chromosome Location	chr3:133653566-133653567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133649439..133651993-chr3:133652864..133655302,2	MCF-7	breast:
2	chr3:133653327..133655390-chr3:133672919..133674520,2	MCF-7	breast:
3	chr3:133652370..133655083-chr3:133887182..133889306,2	MCF-7	breast:
4	chr3:133650603..133653685-chr3:133661707..133664077,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs59416045	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59935979	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72978388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978396	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72980303	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980304	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980310	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980320	0.85[AMR][1000 genomes]
rs72980324	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980326	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72980351	0.85[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133646800-133658200	Weak transcription	Right Atrium	heart
2	chr3:133647000-133654600	Weak transcription	Right Ventricle	heart
3	chr3:133647000-133661800	Weak transcription	Gastric	stomach
4	chr3:133647400-133661000	Weak transcription	Fetal Thymus	thymus
5	chr3:133647800-133661000	Weak transcription	Lung	lung
6	chr3:133649800-133658200	Weak transcription	Esophagus	oesophagus
7	chr3:133650200-133662600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:133651800-133663400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:133652000-133654200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:133652400-133654400	Enhancers	Colonic Mucosa	Colon
11	chr3:133652600-133653800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:133652800-133654000	Enhancers	Fetal Intestine Large	intestine
13	chr3:133652800-133654200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr3:133652800-133654400	Enhancers	Duodenum Mucosa	Duodenum
15	chr3:133652800-133654400	Enhancers	Fetal Intestine Small	intestine
16	chr3:133652800-133654600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:133653000-133654400	Enhancers	Small Intestine	intestine
18	chr3:133653000-133655400	Genic enhancers	Spleen	Spleen
19	chr3:133653200-133653600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:133653200-133653800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:133653200-133654000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:133653200-133654200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:133653400-133655000	Enhancers	Stomach Mucosa	stomach
24	chr3:133653400-133655600	Weak transcription	Primary hematopoietic stem cells	blood

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