Variant report

Variant	rs6574014
Chromosome Location	chr14:72027425-72027426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10129301	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136590	0.85[AFR][1000 genomes]
rs10143346	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10147863	0.87[YRI][hapmap]
rs11627930	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628525	0.84[CHB][hapmap];0.84[GIH][hapmap]
rs12878009	0.96[CEU][hapmap];0.89[CHB][hapmap]
rs12897119	0.96[CEU][hapmap];0.90[CHB][hapmap];0.81[YRI][hapmap]
rs12897977	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1859551	0.80[ASW][hapmap];0.89[CEU][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap]
rs193440	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2041330	0.84[CEU][hapmap]
rs2108048	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35958404	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36528	0.81[ASN][1000 genomes]
rs36532	0.85[EUR][1000 genomes]
rs3784063	0.81[AFR][1000 genomes]
rs4464023	0.93[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902939	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141155	0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145435	0.96[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap]
rs7150965	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7155008	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8007521	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap]
rs8023058	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs9672071	0.84[EUR][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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6574014	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72022600-72040200	Weak transcription	Osteobl	bone
3	chr14:72023200-72030400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:72023400-72041000	Weak transcription	HSMM	muscle
5	chr14:72023800-72030000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:72023800-72033200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:72024200-72032400	Weak transcription	Primary B cells from cord blood	blood
8	chr14:72024400-72033000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:72024400-72033200	Weak transcription	Thymus	Thymus
10	chr14:72024400-72052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:72024800-72032000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:72025200-72030200	Weak transcription	Dnd41	blood
13	chr14:72025400-72033000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:72025800-72029600	Weak transcription	GM12878-XiMat	blood
15	chr14:72027200-72027600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:72027200-72027600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:72027400-72028000	Enhancers	Primary neutrophils fromperipheralblood	blood

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