Variant report

Variant	rs1269659
Chromosome Location	chr7:107908197-107908198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107905891..107908548-chr7:107908939..107910827,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1269621	0.80[EUR][1000 genomes]
rs1269628	0.89[CEU][hapmap];0.83[MEX][hapmap]
rs1269629	0.82[ASW][hapmap];0.89[CEU][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap]
rs1269634	0.89[CEU][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs1269639	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs1269640	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs1269641	0.82[AMR][1000 genomes]
rs1269642	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269643	0.89[CEU][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs1269645	0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs1269649	0.85[ASN][1000 genomes]
rs1269650	0.82[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1269651	1.00[ASW][hapmap];0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269652	0.96[ASN][1000 genomes]
rs1269653	0.96[ASN][1000 genomes]
rs1269655	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1269656	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269658	0.84[EUR][1000 genomes]
rs2284284	0.85[CHD][hapmap];0.93[JPT][hapmap]
rs370133	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs405945	0.85[CEU][hapmap]
rs422011	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs888189	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:107904000-107908600	Weak transcription	Brain Angular Gyrus	brain
3	chr7:107904000-107910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:107904800-107909000	Weak transcription	HSMMtube	muscle
5	chr7:107906000-107911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:107906600-107909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107907000-107908800	Weak transcription	HSMM	muscle
8	chr7:107907000-107911400	Enhancers	A549	lung
9	chr7:107907200-107908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:107907200-107923400	Weak transcription	Fetal Brain Male	brain
11	chr7:107907400-107908800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:107907400-107911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:107907400-107919400	Weak transcription	HUVEC	blood vessel
14	chr7:107907400-107923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:107907800-107908200	Weak transcription	NH-A	brain
16	chr7:107907800-107925000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:107908000-107908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:107908000-107909000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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