Variant report

Variant	rs7788154
Chromosome Location	chr7:150432622-150432623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:150432596-150432683	SH-SY5Y	brain:	n/a	chr7:150432640-150432650 chr7:150432637-150432653 chr7:150432642-150432649 chr7:150432635-150432656 chr7:150432642-150432649 chr7:150432642-150432652 chr7:150432642-150432649

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150430382..150432890-chr7:150434704..150436379,2	K562	blood:
2	chr7:150428030..150430773-chr7:150431433..150433417,2	K562	blood:

Variant related genes	Relation type
GIMAP5	TF binding region
ENSG00000196329	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11972223	1.00[EUR][1000 genomes]
rs11973850	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977474	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs11981041	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11983363	1.00[EUR][1000 genomes]
rs11983983	1.00[EUR][1000 genomes]
rs28375807	1.00[EUR][1000 genomes]
rs28651123	1.00[EUR][1000 genomes]
rs28690331	1.00[EUR][1000 genomes]
rs58281055	1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs73478442	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788229	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7807202	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150422000-150433600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr7:150426800-150432800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:150429000-150434000	Enhancers	GM12878-XiMat	blood
4	chr7:150429400-150433200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:150430400-150433200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:150431400-150434400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:150431600-150433600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:150431800-150432800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr7:150431800-150433200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:150431800-150433800	Enhancers	Dnd41	blood
11	chr7:150431800-150434400	Enhancers	Fetal Thymus	thymus
12	chr7:150432000-150432800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:150432200-150433200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:150432600-150432800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr7:150432600-150432800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150432600-150433000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr7:150432600-150433000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:150432600-150433000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:150432600-150434200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr7:150432600-150434200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150432600-150434200	Enhancers	Thymus	Thymus
22	chr7:150432600-150435000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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