Variant report

Variant	rs1178314
Chromosome Location	chr7:18243492-18243493
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:18216175..18219315-chr7:18243152..18247014,4	K562	blood:
2	chr7:18240899..18246753-chr7:18248807..18254845,6	K562	blood:
3	chr7:18240899..18244580-chr7:18250175..18254118,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1007192	0.82[ASN][1000 genomes]
rs10265242	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281630	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs109251	0.88[ASN][1000 genomes]
rs11769668	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1178311	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1178313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1178315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1178316	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1178331	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs122617	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13227027	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs13232015	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1431334	0.81[ASN][1000 genomes]
rs17138794	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17138914	0.93[JPT][hapmap]
rs17418362	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2567209	0.83[ASN][1000 genomes]
rs2731554	0.91[ASN][1000 genomes]
rs302140	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs302141	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs302147	0.92[ASN][1000 genomes]
rs302148	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs302153	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs302155	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs302162	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs302164	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs34461394	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35307869	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35676223	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs366909	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs436270	0.87[ASN][1000 genomes]
rs623532	1.00[JPT][hapmap]
rs624811	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs647270	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs679492	1.00[JPT][hapmap]
rs680882	1.00[JPT][hapmap]
rs917329	0.81[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18241400-18243600	Weak transcription	Right Ventricle	heart
2	chr7:18241400-18251200	Weak transcription	Left Ventricle	heart
3	chr7:18241600-18243600	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:18242200-18250000	Weak transcription	Fetal Heart	heart
5	chr7:18243200-18244400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:18243400-18243600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:18243400-18243600	Enhancers	Psoas Muscle	Psoas

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