Variant report

Variant	rs7728286
Chromosome Location	chr5:58818722-58818723
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	chr5:58806024..58808912-chr5:58817531..58819530,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10805515	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1605275	0.89[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17740844	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35987304	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56224837	0.87[AFR][1000 genomes]
rs7703658	0.84[ASW][hapmap];0.82[GIH][hapmap];0.84[LWK][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7712329	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921942	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 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	chr5:58804800-58819800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58810000-58823600	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:58813600-58818800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:58814400-58820400	Weak transcription	Psoas Muscle	Psoas
5	chr5:58814600-58823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:58815600-58821400	Weak transcription	HUVEC	blood vessel
8	chr5:58815800-58823600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58817000-58819000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:58817200-58818800	Enhancers	Fetal Intestine Large	intestine
11	chr5:58817400-58818800	Enhancers	Fetal Intestine Small	intestine
12	chr5:58817400-58820800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:58818200-58819000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:58818400-58818800	Transcr. at gene 5' and 3'	A549	lung
15	chr5:58818400-58819200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:58818400-58819600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:58818400-58820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:58818400-58822400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:58818600-58818800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:58818600-58818800	Enhancers	Stomach Mucosa	stomach
21	chr5:58818600-58820600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:58818600-58821200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:58818600-58821400	Weak transcription	HSMMtube	muscle

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