Variant report

Variant	rs6992023
Chromosome Location	chr8:119087173-119087174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:
2	chr8:119078696..119080896-chr8:119086138..119088865,2	MCF-7	breast:
3	chr8:119087073..119088904-chr8:119093455..119095090,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11562721	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431728	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431757	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17451050	1.00[CHB][hapmap]
rs17454120	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1870100	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838643	1.00[ASN][1000 genomes]
rs7843725	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
5	chr8:119078000-119099000	Weak transcription	Dnd41	blood
6	chr8:119078400-119088400	Weak transcription	Hela-S3	cervix
7	chr8:119078400-119091600	Weak transcription	Gastric	stomach
8	chr8:119081600-119087400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119083600-119087400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:119083600-119087800	Strong transcription	NHEK	skin
12	chr8:119085200-119088000	Enhancers	Fetal Brain Male	brain
13	chr8:119085200-119091600	Weak transcription	HSMM	muscle
14	chr8:119085400-119088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:119085600-119087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119085600-119089600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
18	chr8:119085800-119087200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:119085800-119089800	Enhancers	Fetal Heart	heart
20	chr8:119086000-119087200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:119086000-119087400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:119086000-119087800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119086000-119087800	Enhancers	HMEC	breast
24	chr8:119086000-119088800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:119086000-119089000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:119086200-119087200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr8:119086200-119087200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:119086200-119087200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:119086200-119087400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:119086200-119087600	Enhancers	Fetal Thymus	thymus
31	chr8:119086200-119087800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:119086200-119088000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:119086200-119088200	Enhancers	Lung	lung
34	chr8:119086200-119088600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:119086200-119088800	Weak transcription	Liver	Liver
36	chr8:119086400-119087200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:119086400-119087200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr8:119086400-119087200	Flanking Active TSS	Fetal Stomach	stomach
39	chr8:119086400-119087400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:119086400-119087400	Flanking Active TSS	NHLF	lung
41	chr8:119086400-119087600	Enhancers	Placenta	Placenta
42	chr8:119086400-119087600	Enhancers	Small Intestine	intestine
43	chr8:119086400-119087800	Flanking Active TSS	NH-A	brain
44	chr8:119086600-119087600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:119086600-119087600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr8:119086600-119087600	Enhancers	A549	lung
47	chr8:119086800-119087200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:119086800-119087200	Active TSS	Brain Anterior Caudate	brain
49	chr8:119086800-119087200	Flanking Active TSS	Ovary	ovary
50	chr8:119086800-119087400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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