Variant report

Variant	rs2301971
Chromosome Location	chr7:16511064-16511065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16505228..16507130-chr7:16509923..16512038,2	K562	blood:

Variant related genes	Relation type
ENSG00000171243	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11761180	0.88[ASN][1000 genomes]
rs11763476	0.85[ASN][1000 genomes]
rs11770398	0.95[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12532480	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12668183	0.91[EUR][1000 genomes]
rs12699795	0.86[ASN][1000 genomes]
rs12699797	0.86[ASN][1000 genomes]
rs12699798	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs12699799	0.86[ASN][1000 genomes]
rs12699800	0.82[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs12699802	0.95[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs17619106	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2293672	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2528472	0.80[AMR][1000 genomes]
rs2528473	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4719466	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4721504	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs56271810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950958	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6964287	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6964370	0.91[AFR][1000 genomes]
rs73074739	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8180829	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791820	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv887754	chr7:16509086-16541388	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv887755	chr7:16509086-16542364	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16501000-16511600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16506000-16511600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:16506000-16511600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:16506000-16511600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:16506200-16511600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:16506200-16511600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:16506400-16511400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:16506400-16511600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:16506600-16511800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:16506800-16511600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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