Variant report

Variant	rs6999945
Chromosome Location	chr8:66838470-66838471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66837771..66840064-chr8:66901193..66903433,2	MCF-7	breast:
2	chr8:66836978..66839571-chr8:66839813..66842033,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11987232	0.83[ASN][1000 genomes]
rs11994535	1.00[ASN][1000 genomes]
rs11995869	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs16932389	0.80[EUR][1000 genomes]
rs16932394	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs16932396	1.00[JPT][hapmap]
rs16932415	0.88[CEU][hapmap];0.88[TSI][hapmap]
rs16932422	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs16932423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs16932440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16932441	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2357474	0.85[JPT][hapmap]
rs2357662	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs28671004	0.85[EUR][1000 genomes]
rs34178379	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922725	1.00[ASN][1000 genomes]
rs3922726	1.00[ASN][1000 genomes]
rs3923558	0.91[EUR][1000 genomes]
rs55636103	1.00[ASN][1000 genomes]
rs55990851	0.84[EUR][1000 genomes]
rs56200451	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57033118	1.00[ASN][1000 genomes]
rs57896411	0.83[ASN][1000 genomes]
rs58122259	1.00[ASN][1000 genomes]
rs58407124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58423697	0.80[EUR][1000 genomes]
rs58556742	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58607438	0.87[EUR][1000 genomes]
rs58681615	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59321109	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59342909	0.80[ASN][1000 genomes]
rs59436889	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59587921	0.80[ASN][1000 genomes]
rs60107801	0.80[ASN][1000 genomes]
rs60109751	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60866025	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60924938	0.80[EUR][1000 genomes]
rs61357987	0.80[EUR][1000 genomes]
rs61492394	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980631	1.00[ASN][1000 genomes]
rs6981048	0.87[EUR][1000 genomes]
rs6989783	0.83[EUR][1000 genomes]
rs7001442	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7005571	0.85[JPT][hapmap]
rs7006472	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009416	0.80[EUR][1000 genomes]
rs7010977	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7011003	1.00[ASN][1000 genomes]
rs7014758	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237254	0.80[EUR][1000 genomes]
rs73237256	0.80[EUR][1000 genomes]
rs73237268	0.80[EUR][1000 genomes]
rs73244828	0.80[ASN][1000 genomes]
rs73247098	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73248906	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73248909	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73248984	1.00[ASN][1000 genomes]
rs73252340	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7463507	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463565	0.93[EUR][1000 genomes]
rs7813023	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7814441	1.00[ASN][1000 genomes]
rs7815318	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7815325	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821744	0.85[JPT][hapmap]
rs7824102	0.80[ASN][1000 genomes]
rs7827556	0.82[EUR][1000 genomes]
rs7833724	1.00[ASN][1000 genomes]
rs9298108	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs953177	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs9694791	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 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	chr8:66828200-66840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:66835800-66839000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr8:66835800-66839000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:66836000-66838800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:66836200-66838800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:66836600-66841600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:66836600-66841600	Weak transcription	Fetal Thymus	thymus
8	chr8:66837200-66838800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:66837200-66839000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:66837400-66838800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:66837400-66842200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:66838000-66839000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:66838000-66839000	Enhancers	Primary T cells from cord blood	blood
14	chr8:66838000-66841600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:66838200-66838600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:66838200-66841600	Weak transcription	Thymus	Thymus
17	chr8:66838400-66838800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:66838400-66838800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:66838400-66839000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:66838400-66839000	Enhancers	Brain Anterior Caudate	brain

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