Variant report

Variant	rs1295146
Chromosome Location	chr7:16303436-16303437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
2	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
3	chr7:16301478..16303849-chr7:16518183..16519712,2	K562	blood:
4	chr7:16303209..16307181-chr7:16682528..16687363,4	K562	blood:
5	chr7:16301403..16303759-chr7:16503630..16506930,3	K562	blood:
6	chr7:16302428..16304569-chr7:16686662..16689057,2	K562	blood:

Variant related genes	Relation type
ENSG00000171243	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000214960	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10267017	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10275907	0.85[CEU][hapmap]
rs1113569	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11773633	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12216621	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12667765	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs12699773	0.91[ASN][1000 genomes]
rs12699786	0.83[JPT][hapmap]
rs1295137	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295140	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1295141	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1295144	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295151	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295153	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295154	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295159	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1295166	0.92[ASN][1000 genomes]
rs1295169	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1295172	0.95[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1295174	0.92[ASN][1000 genomes]
rs1589987	0.91[ASN][1000 genomes]
rs2389594	1.00[JPT][hapmap]
rs34049441	0.81[ASN][1000 genomes]
rs34915294	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4719461	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4721488	0.83[JPT][hapmap];1.00[YRI][hapmap]
rs6947755	0.80[ASN][1000 genomes]
rs6956587	0.81[ASN][1000 genomes]
rs7782000	0.80[EUR][1000 genomes]
rs7789736	0.86[ASN][1000 genomes]
rs7790551	0.93[ASN][1000 genomes]
rs7794107	0.95[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7807183	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv470133	chr7:16269632-16312056	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv887743	chr7:16271621-16304817	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv869966	chr7:16279782-16307959	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 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	chr7:16275000-16304400	Weak transcription	Fetal Lung	lung
2	chr7:16300200-16308400	Weak transcription	Fetal Heart	heart
3	chr7:16301400-16304200	Active TSS	K562	blood

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