Variant report

Variant	rs1178311
Chromosome Location	chr7:18245443-18245444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:18234357..18236170-chr7:18244078..18246116,2	K562	blood:
2	chr7:18216175..18219315-chr7:18243152..18247014,4	K562	blood:
3	chr7:18240899..18246753-chr7:18248807..18254845,6	K562	blood:
4	chr7:18233266..18236170-chr7:18243676..18245578,2	K562	blood:
5	chr7:17978417..17980205-chr7:18243812..18246469,2	K562	blood:
6	chr7:18162840..18165489-chr7:18245304..18246939,2	K562	blood:

Variant related genes	Relation type
ENSG00000071189	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1007192	0.91[ASN][1000 genomes]
rs10265242	0.92[ASN][1000 genomes]
rs10281630	0.91[ASN][1000 genomes]
rs109251	0.85[ASN][1000 genomes]
rs11769668	0.92[JPT][hapmap]
rs1178313	0.86[ASN][1000 genomes]
rs1178314	0.90[ASN][1000 genomes]
rs1178315	0.92[ASN][1000 genomes]
rs1178316	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1178331	0.90[ASN][1000 genomes]
rs122617	0.83[ASN][1000 genomes]
rs13227027	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs13232015	0.92[JPT][hapmap]
rs1431334	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17138794	0.93[ASN][1000 genomes]
rs17138914	0.92[JPT][hapmap]
rs17418362	0.85[ASN][1000 genomes]
rs1919317	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2005774	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2567209	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2731554	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs302140	0.82[ASN][1000 genomes]
rs302141	0.83[ASN][1000 genomes]
rs302147	0.88[ASN][1000 genomes]
rs302148	0.89[ASN][1000 genomes]
rs302153	0.86[ASN][1000 genomes]
rs302155	0.85[ASN][1000 genomes]
rs302162	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs302164	0.92[JPT][hapmap]
rs34461394	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307869	0.92[ASN][1000 genomes]
rs35676223	0.83[ASN][1000 genomes]
rs366909	0.93[ASN][1000 genomes]
rs436270	0.83[ASN][1000 genomes]
rs623532	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs624811	0.92[JPT][hapmap]
rs647270	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs679492	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs680882	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs758089	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs917329	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18241400-18251200	Weak transcription	Left Ventricle	heart
2	chr7:18242200-18250000	Weak transcription	Fetal Heart	heart
3	chr7:18245400-18246600	Enhancers	Cortex derived primary cultured neurospheres	brain

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