Variant report

Variant	rs4714896
Chromosome Location	chr6:45928727-45928728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1555214	0.92[LWK][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs3777580	0.87[LWK][hapmap]
rs3777588	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs4714891	0.89[LWK][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs56131491	0.80[ASN][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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4714896	SPATS1	cis	parietal	SCAN
rs4714896	DEFB114	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45918800-45938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:45920000-45934800	Weak transcription	Colonic Mucosa	Colon
3	chr6:45923200-45929200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:45923200-45931200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:45924400-45931000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:45924600-45932400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:45924600-45934400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:45926800-45935000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:45927200-45929600	Enhancers	Placenta	Placenta
10	chr6:45927800-45930600	Enhancers	Fetal Heart	heart
11	chr6:45927800-45932800	Weak transcription	NH-A	brain
12	chr6:45927800-45933000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:45928000-45929000	Enhancers	Adipose Nuclei	Adipose
14	chr6:45928000-45933000	Weak transcription	HMEC	breast
15	chr6:45928200-45928800	Enhancers	Psoas Muscle	Psoas
16	chr6:45928200-45936400	Weak transcription	Fetal Kidney	kidney
17	chr6:45928400-45929600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:45928400-45934200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:45928600-45929400	Weak transcription	Right Atrium	heart
20	chr6:45928600-45930400	Weak transcription	Left Ventricle	heart
21	chr6:45928600-45931800	Weak transcription	Small Intestine	intestine
22	chr6:45928600-45933600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:45928600-45934200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:45928600-45934200	Weak transcription	Lung	lung
25	chr6:45928600-45934200	Weak transcription	Right Ventricle	heart

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