Variant report

Variant	rs7341280
Chromosome Location	chr6:150860123-150860124
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	chr6:150858643..150861809-chr6:150864654..150868383,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11961060	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4131416	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4131417	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4282419	0.80[ASN][1000 genomes]
rs4311527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4317421	0.80[ASN][1000 genomes]
rs4333428	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62432560	0.84[ASN][1000 genomes]
rs62432561	0.85[ASN][1000 genomes]
rs6557543	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904218	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs6911586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6913362	0.86[ASN][1000 genomes]
rs6918187	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6919129	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6925854	0.80[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs7341223	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7453224	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7749721	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7756438	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766048	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7767400	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7773743	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7775952	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9322262	0.86[ASN][1000 genomes]
rs9322263	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9322265	0.94[ASN][1000 genomes]
rs9371454	0.84[ASN][1000 genomes]
rs9372056	0.84[ASN][1000 genomes]
rs9372063	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs9372071	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9372072	0.83[ASN][1000 genomes]
rs9383828	0.84[ASN][1000 genomes]
rs9384547	0.83[ASN][1000 genomes]
rs9384548	0.86[ASN][1000 genomes]
rs9384550	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9384556	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9384557	0.81[ASN][1000 genomes]
rs9397324	0.84[ASN][1000 genomes]
rs9397325	0.83[ASN][1000 genomes]
rs9397333	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398011	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9398014	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9398015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9398016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9480467	0.80[ASN][1000 genomes]
rs9480469	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9480470	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9480471	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9480472	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020067	chr6:150730783-150870708	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv464079	chr6:150836676-150873766	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv604850	chr6:150836676-150873766	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7341280	STXBP5	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150857000-150862400	Weak transcription	Fetal Lung	lung
2	chr6:150857600-150860200	Weak transcription	Liver	Liver
3	chr6:150857600-150862400	Weak transcription	HepG2	liver
4	chr6:150858000-150860200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:150858000-150864000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:150858000-150864200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:150859000-150862800	Weak transcription	Right Atrium	heart
8	chr6:150859000-150865400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150859200-150860400	ZNF genes & repeats	Fetal Muscle Leg	muscle
10	chr6:150859200-150860600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:150859400-150860400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:150859400-150860600	Weak transcription	Lung	lung
13	chr6:150859400-150862400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:150859400-150867400	Weak transcription	Fetal Kidney	kidney
15	chr6:150860000-150863400	Weak transcription	Stomach Smooth Muscle	stomach

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