Variant report

Variant	rs322807
Chromosome Location	chr7:127746769-127746770
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127745939..127747505-chr7:127754984..127756729,2	K562	blood:
2	chr7:127740635..127743022-chr7:127746178..127748843,2	MCF-7	breast:
3	chr7:127231985..127234573-chr7:127746550..127748851,2	K562	blood:

Variant related genes	Relation type
ENSG00000106328	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs178733	0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs184430	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322738	0.84[ASN][1000 genomes]
rs322752	0.81[ASN][1000 genomes]
rs322755	0.81[EUR][1000 genomes]
rs322756	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322760	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322761	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322762	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322765	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322766	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322768	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322770	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322771	0.89[ASN][1000 genomes]
rs322775	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322778	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs322780	0.95[ASN][1000 genomes]
rs322782	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322783	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322784	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322785	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs322786	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322787	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322790	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322791	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322806	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322809	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322812	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322815	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322818	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs4731395	0.81[AFR][1000 genomes]
rs5028619	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467159	0.80[AFR][1000 genomes]
rs6467160	0.82[AFR][1000 genomes]
rs6467161	0.81[YRI][hapmap]
rs6467163	0.82[AFR][1000 genomes]
rs6960004	0.94[CHB][hapmap];0.95[ASN][1000 genomes]
rs759710	0.82[AFR][1000 genomes]
rs7792971	0.81[AFR][1000 genomes]
rs7793071	0.81[AFR][1000 genomes]
rs7803045	0.81[AFR][1000 genomes]
rs7803473	0.82[AFR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127734400-127748200	Weak transcription	Dnd41	blood
2	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
3	chr7:127744800-127746800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:127744800-127747200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:127744800-127748600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:127744800-127748800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:127744800-127753200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:127744800-127753400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:127745000-127746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:127745000-127747800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:127745400-127746800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:127745600-127746800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:127745800-127746800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:127745800-127747800	Weak transcription	Spleen	Spleen
15	chr7:127745800-127749000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:127746000-127747000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:127746400-127747000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr7:127746400-127753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:127746600-127748400	Enhancers	Primary T cells from cord blood	blood
20	chr7:127746600-127748400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:127746600-127748800	Enhancers	Primary B cells from cord blood	blood

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