Variant report

Variant	rs6999018
Chromosome Location	chr8:104268970-104268971
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	chr8:104268461..104270689-chr8:104277441..104279218,2	MCF-7	breast:
2	chr8:104258179..104261076-chr8:104267475..104269519,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10096928	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1157213	0.90[CHB][hapmap];0.82[AMR][1000 genomes]
rs12541167	0.80[JPT][hapmap]
rs12543038	0.80[JPT][hapmap]
rs13277869	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1494280	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2220824	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2934726	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3104033	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3133798	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3133833	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133837	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7001084	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs7825986	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7829782	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs827541	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.91[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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
2	chr8:104264200-104271600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:104266400-104269800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:104266400-104270200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:104266600-104269000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:104266600-104269000	Enhancers	HMEC	breast
7	chr8:104266600-104269200	Enhancers	Brain Hippocampus Middle	brain
8	chr8:104266600-104270000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:104266600-104270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:104266800-104269000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:104266800-104269200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:104266800-104269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:104266800-104269200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:104266800-104269200	Enhancers	HUVEC	blood vessel
15	chr8:104266800-104269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:104266800-104270200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:104267200-104269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:104267200-104269000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:104267200-104269000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:104267200-104269600	Enhancers	Brain Anterior Caudate	brain
21	chr8:104267200-104269800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:104267200-104269800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:104267400-104269000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:104267400-104269000	Enhancers	Hela-S3	cervix
25	chr8:104267400-104269000	Enhancers	NHDF-Ad	bronchial
26	chr8:104267400-104269600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:104267400-104269800	Enhancers	Brain Substantia Nigra	brain
28	chr8:104267600-104269000	Enhancers	NH-A	brain
29	chr8:104267600-104269600	Enhancers	Osteobl	bone
30	chr8:104267600-104270000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:104267800-104270000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:104268000-104269800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:104268200-104283400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:104268400-104269000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:104268400-104269000	Enhancers	Brain Angular Gyrus	brain
36	chr8:104268600-104270000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:104268800-104269000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr8:104268800-104269000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:104268800-104269000	Enhancers	Lung	lung
40	chr8:104268800-104269200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:104268800-104269600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:104268800-104281200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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