Variant report

Variant	rs7731790
Chromosome Location	chr5:94959876-94959877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94951476..94954294-chr5:94957994..94960881,2	MCF-7	breast:
2	chr5:94959437..94960992-chr5:94968032..94970873,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10075777	0.91[ASN][1000 genomes]
rs431903	1.00[JPT][hapmap]
rs4869244	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1842645	chr5:94955602-94962981	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1793809	chr5:94956266-94962981	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1795334	chr5:94956266-94962981	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv598958	chr5:94956345-94962981	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv598959	chr5:94956345-94963181	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7731790	C5orf27	cis	parietal	SCAN
rs7731790	GMPS	trans	cerebellum	SCAN
rs7731790	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94957800-94963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:94957800-94967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:94958200-94960200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:94958200-94960200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:94958200-94960200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:94958200-94960800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:94958200-94961000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:94958200-94961000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:94958200-94964600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:94958200-94967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:94958400-94961400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:94958400-94963400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:94958400-94963400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:94958400-94963400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:94958600-94960000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr5:94958600-94960400	Enhancers	Primary T cells from cord blood	blood
17	chr5:94958600-94960400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:94958600-94960600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:94958600-94961200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:94959800-94967800	Weak transcription	Pancreas	Pancrea

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