Variant report

Variant	rs6944670
Chromosome Location	chr7:39057109-39057110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39056885..39058530-chr7:39059051..39061943,3	K562	blood:
2	chr7:39052158..39055296-chr7:39055387..39058245,4	K562	blood:
3	chr7:39056516..39058385-chr7:39059051..39061295,2	K562	blood:

Variant related genes	Relation type
ENSG00000106536	Chromatin interaction
ENSG00000233854	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1000869	0.80[ASN][1000 genomes]
rs10248136	0.87[CHB][hapmap];0.90[CHD][hapmap]
rs10464366	0.87[CHB][hapmap]
rs10951593	0.87[CHB][hapmap]
rs1116811	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs11765705	0.87[CHB][hapmap]
rs11972294	0.81[ASN][1000 genomes]
rs11973171	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs12532009	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs12538487	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12667652	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12669446	0.84[ASW][hapmap];0.91[CEU][hapmap];0.88[CHB][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap]
rs12670003	0.82[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12671046	0.83[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[ASN][1000 genomes]
rs12674371	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13242896	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525798	0.94[CHB][hapmap]
rs1527952	0.94[CHB][hapmap]
rs17171519	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462886	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6462887	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6945380	0.94[CHB][hapmap]
rs6952464	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6974522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6979210	0.87[CHB][hapmap]
rs7779853	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs7785889	0.93[CHB][hapmap]
rs7801660	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs940876	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv887967	chr7:39009307-39090698	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:39054200-39062000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:39056200-39058000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:39056400-39057200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:39056400-39057400	Enhancers	Placenta	Placenta
5	chr7:39056400-39058000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:39056600-39057200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:39056600-39057200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:39056800-39057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:39057000-39057200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:39057000-39057400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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