Variant report

Variant	rs6991970
Chromosome Location	chr8:61292261-61292262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61291623..61293147-chr8:61298971..61301324,2	K562	blood:
2	chr8:61287951..61290172-chr8:61291680..61294053,2	K562	blood:

Variant related genes	Relation type
ENSG00000226301	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10504309	1.00[CEU][hapmap]
rs11992608	1.00[CEU][hapmap]
rs16925984	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16925991	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16925993	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16925996	1.00[EUR][1000 genomes]
rs16926045	1.00[EUR][1000 genomes]
rs16926068	1.00[CEU][hapmap]
rs16926106	1.00[ASN][1000 genomes]
rs16926108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926113	1.00[ASN][1000 genomes]
rs16926114	1.00[ASN][1000 genomes]
rs16926128	0.82[ASN][1000 genomes]
rs16926130	0.82[ASN][1000 genomes]
rs41337844	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs56367279	1.00[EUR][1000 genomes]
rs57099349	1.00[EUR][1000 genomes]
rs57226758	1.00[EUR][1000 genomes]
rs57639687	1.00[EUR][1000 genomes]
rs58158351	1.00[EUR][1000 genomes]
rs59083851	1.00[EUR][1000 genomes]
rs59464858	1.00[EUR][1000 genomes]
rs59489989	1.00[EUR][1000 genomes]
rs60611994	1.00[EUR][1000 genomes]
rs60623499	1.00[EUR][1000 genomes]
rs60776885	1.00[EUR][1000 genomes]
rs61335302	1.00[EUR][1000 genomes]
rs61461169	1.00[EUR][1000 genomes]
rs6982322	1.00[EUR][1000 genomes]
rs6994338	1.00[EUR][1000 genomes]
rs7001331	1.00[EUR][1000 genomes]
rs7001911	1.00[EUR][1000 genomes]
rs7002034	1.00[EUR][1000 genomes]
rs7017939	0.80[AFR][1000 genomes]
rs73250102	1.00[ASN][1000 genomes]
rs73251503	1.00[ASN][1000 genomes]
rs7814995	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7833440	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7841906	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61284400-61293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61287000-61292600	Weak transcription	Spleen	Spleen
3	chr8:61290400-61297600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:61290400-61297800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:61292000-61292600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:61292000-61292600	Enhancers	K562	blood
7	chr8:61292200-61295400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:61292200-61295400	Enhancers	Monocytes-CD14+_RO01746	blood

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