Variant report

Variant	rs2044388
Chromosome Location	chr8:8908142-8908143
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	chr8:8907031..8909289-chr8:9008104..9009866,2	K562	blood:
2	chr8:8895603..8897161-chr8:8907687..8909459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253426	Chromatin interaction
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1036081	0.83[EUR][1000 genomes]
rs1045529	0.85[CHB][hapmap]
rs11782281	0.89[CHB][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11784393	0.85[CHB][hapmap]
rs12681075	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12682403	0.81[EUR][1000 genomes]
rs1562211	0.89[CHB][hapmap]
rs17155071	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs2044387	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2082210	0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2084076	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes]
rs2288669	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288670	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288671	0.83[CHB][hapmap]
rs2288672	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2409119	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs28693452	0.83[EUR][1000 genomes]
rs2915248	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2915251	0.89[CHB][hapmap]
rs2915252	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs2915253	0.92[EUR][1000 genomes]
rs2921379	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953800	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes]
rs2953801	0.85[EUR][1000 genomes]
rs2953808	0.84[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs2953809	0.88[EUR][1000 genomes]
rs2956242	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[EUR][1000 genomes]
rs2956243	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs2956244	0.87[CHB][hapmap]
rs2979246	0.89[CHB][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes]
rs2979258	0.83[AFR][1000 genomes]
rs2979260	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2979261	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2979262	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2979263	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs2979264	0.93[EUR][1000 genomes]
rs2979265	0.83[CHB][hapmap]
rs2979266	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[EUR][1000 genomes]
rs35076339	0.84[EUR][1000 genomes]
rs4081881	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes]
rs4433148	0.81[EUR][1000 genomes]
rs4551361	0.81[EUR][1000 genomes]
rs4601317	0.81[EUR][1000 genomes]
rs4636210	0.81[EUR][1000 genomes]
rs4841085	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55654856	0.83[EUR][1000 genomes]
rs57552272	0.83[EUR][1000 genomes]
rs58254294	0.83[EUR][1000 genomes]
rs58604216	0.83[EUR][1000 genomes]
rs60664964	0.83[EUR][1000 genomes]
rs6422353	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes]
rs67831654	0.84[EUR][1000 genomes]
rs68132987	0.83[EUR][1000 genomes]
rs6983008	0.83[EUR][1000 genomes]
rs6983030	0.83[EUR][1000 genomes]
rs6983503	0.83[EUR][1000 genomes]
rs6983504	0.83[EUR][1000 genomes]
rs6987223	0.83[EUR][1000 genomes]
rs6990532	0.81[EUR][1000 genomes]
rs6992896	0.83[EUR][1000 genomes]
rs7005133	0.94[CHB][hapmap]
rs7006526	0.83[EUR][1000 genomes]
rs7006798	0.81[EUR][1000 genomes]
rs7007290	0.81[EUR][1000 genomes]
rs7012954	0.81[EUR][1000 genomes]
rs7012984	0.83[EUR][1000 genomes]
rs73195769	0.84[EUR][1000 genomes]
rs73195777	0.83[EUR][1000 genomes]
rs73195780	0.83[EUR][1000 genomes]
rs73518370	0.83[EUR][1000 genomes]
rs7357601	0.88[EUR][1000 genomes]
rs7813388	0.94[CHB][hapmap];0.88[EUR][1000 genomes]
rs7824140	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7839585	0.89[CHB][hapmap]
rs9644673	0.81[EUR][1000 genomes]
rs9644696	0.83[EUR][1000 genomes]
rs987537	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs987538	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
2	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
3	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
4	chr8:8891400-8915200	Weak transcription	K562	blood
5	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
6	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:8903200-8910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:8905600-8910800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:8905800-8911000	Weak transcription	Fetal Lung	lung
11	chr8:8906200-8913000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:8906200-8914600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:8907200-8909400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:8907400-8908600	Enhancers	NHDF-Ad	bronchial
15	chr8:8907400-8910800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:8907400-8915000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:8907600-8910800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:8907600-8913400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:8907600-8914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:8907600-8915000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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