Variant report

Variant	rs2047002
Chromosome Location	chr6:150926564-150926565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12661737	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1492572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2029645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047001	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047003	1.00[EUR][1000 genomes]
rs3050	0.81[GIH][hapmap]
rs4365945	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs57809241	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6904488	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9478764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	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
2	nsv464080	chr6:150923115-150941310	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv604851	chr6:150923115-150941310	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2047002	ZBTB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150922200-150927600	Weak transcription	Spleen	Spleen
2	chr6:150922200-150930600	Weak transcription	Aorta	Aorta
3	chr6:150922400-150927600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:150922400-150927600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:150922400-150927600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:150922400-150941400	Weak transcription	Colonic Mucosa	Colon
7	chr6:150922600-150927800	Weak transcription	Small Intestine	intestine
8	chr6:150922600-150928000	Weak transcription	Liver	Liver
9	chr6:150922800-150927600	Weak transcription	Brain Angular Gyrus	brain
10	chr6:150922800-150929600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:150923000-150927000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:150923000-150927200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:150923000-150927200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:150923000-150927400	Weak transcription	Placenta	Placenta
15	chr6:150923000-150927400	Weak transcription	Right Atrium	heart
16	chr6:150923000-150927400	Weak transcription	HMEC	breast
17	chr6:150923000-150927600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:150923000-150938600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:150923600-150926800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:150923600-150930800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:150924800-150926600	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr6:150924800-150929200	Enhancers	Fetal Kidney	kidney
23	chr6:150925600-150927400	Strong transcription	Primary B cells from cord blood	blood
24	chr6:150925600-150929400	Enhancers	Thymus	Thymus
25	chr6:150925600-150931600	Genic enhancers	Fetal Thymus	thymus

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