Variant report

Variant	rs17477497
Chromosome Location	chr8:119120287-119120288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119112265..119114853-chr8:119117703..119122505,4	K562	blood:
2	chr8:118875598..118876393-chr8:119120271..119121636,4	MCF-7	breast:
3	chr8:119116728..119118979-chr8:119119696..119121253,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17477413	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17477455	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17477476	1.00[ASN][1000 genomes]
rs17477525	1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17477580	1.00[CHB][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17477622	1.00[ASN][1000 genomes]
rs17477629	1.00[AMR][1000 genomes]
rs17477650	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506336	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17506357	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506392	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506426	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs17506461	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17506489	1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506545	1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506573	1.00[AMR][1000 genomes]
rs60848112	1.00[AMR][1000 genomes]
rs7009198	1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73312336	0.83[ASN][1000 genomes]
rs73312339	1.00[ASN][1000 genomes]
rs73312370	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119112200-119120800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:119112400-119120600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:119112400-119120600	Weak transcription	Placenta	Placenta
4	chr8:119112400-119120600	Weak transcription	Thymus	Thymus
5	chr8:119112400-119120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:119113200-119120800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:119115600-119120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr8:119117400-119123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119117600-119121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:119118200-119121800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:119118400-119120800	Active TSS	Duodenum Mucosa	Duodenum
14	chr8:119118600-119120400	Flanking Active TSS	HMEC	breast
15	chr8:119118800-119120400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:119118800-119122000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:119118800-119124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:119118800-119125000	Active TSS	Aorta	Aorta
19	chr8:119119000-119122000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:119119000-119124600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:119119200-119120600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:119119200-119121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr8:119119400-119120400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:119119400-119120600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr8:119119400-119121000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:119119400-119121000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:119119400-119121000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:119119400-119121000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:119119400-119121600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:119119400-119122000	Active TSS	Ovary	ovary
32	chr8:119119400-119122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:119119400-119123000	Flanking Active TSS	Hela-S3	cervix
34	chr8:119119400-119123200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:119119400-119123200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:119119600-119120400	Genic enhancers	Primary T cells from cord blood	blood
37	chr8:119119600-119120400	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr8:119119600-119120400	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr8:119119600-119120400	Enhancers	Psoas Muscle	Psoas
40	chr8:119119600-119120400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:119119600-119120600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:119119600-119120600	Enhancers	Brain Anterior Caudate	brain
43	chr8:119119600-119120800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:119119600-119120800	Active TSS	NHLF	lung
45	chr8:119119600-119121000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr8:119119600-119121000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr8:119119600-119121000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:119119600-119121200	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:119119600-119122000	Active TSS	Fetal Muscle Trunk	muscle
50	chr8:119119600-119122800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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