Variant report

Variant	rs6988825
Chromosome Location	chr8:19472837-19472838
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	chr8:19459193..19461588-chr8:19471214..19473086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11993402	0.86[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs13250084	0.88[EUR][1000 genomes]
rs13260856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.88[TSI][hapmap];0.94[ASN][1000 genomes]
rs13261887	0.80[CHD][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28418918	0.80[EUR][1000 genomes]
rs28558562	0.82[ASN][1000 genomes]
rs28690902	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34267078	0.92[EUR][1000 genomes]
rs34453606	0.84[ASN][1000 genomes]
rs4472533	0.90[TSI][hapmap];0.96[YRI][hapmap];0.80[EUR][1000 genomes]
rs4574860	0.85[ASN][1000 genomes]
rs4636223	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4922066	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs59244617	0.80[EUR][1000 genomes]
rs6984585	0.84[ASN][1000 genomes]
rs6988797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997538	0.84[ASN][1000 genomes]
rs7003381	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7828030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:19460200-19474200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:19460200-19474200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:19463400-19473200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:19464200-19476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:19465800-19474000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:19466600-19477000	Weak transcription	Aorta	Aorta
9	chr8:19466600-19477000	Weak transcription	Fetal Lung	lung
10	chr8:19467000-19476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:19468000-19483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:19468400-19475400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:19470800-19474600	Weak transcription	Fetal Stomach	stomach
14	chr8:19471600-19473200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:19471800-19473000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:19471800-19473000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:19471800-19473000	Enhancers	Hela-S3	cervix
18	chr8:19471800-19473000	Enhancers	HUVEC	blood vessel
19	chr8:19471800-19473200	Flanking Active TSS	A549	lung
20	chr8:19471800-19473400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:19472000-19473000	Enhancers	NHDF-Ad	bronchial
22	chr8:19472200-19473000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:19472200-19473000	Enhancers	Ovary	ovary
24	chr8:19472200-19473000	Enhancers	Right Atrium	heart
25	chr8:19472200-19481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:19472400-19473000	Enhancers	GM12878-XiMat	blood
27	chr8:19472400-19473000	Enhancers	NH-A	brain
28	chr8:19472600-19473800	Enhancers	Primary B cells from cord blood	blood
29	chr8:19472600-19475600	Weak transcription	Osteobl	bone
30	chr8:19472600-19480000	Weak transcription	Primary T cells from cord blood	blood
31	chr8:19472800-19474000	Weak transcription	Left Ventricle	heart
32	chr8:19472800-19476400	Weak transcription	Right Ventricle	heart
33	chr8:19472800-19482400	Weak transcription	Spleen	Spleen

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