Variant report

Variant	rs17430728
Chromosome Location	chr8:118933171-118933172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10955840	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562671	0.83[YRI][hapmap]
rs17430694	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430749	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17431152	0.83[YRI][hapmap]
rs17431215	0.83[YRI][hapmap]
rs17453119	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453567	0.83[YRI][hapmap]
rs17453602	0.83[YRI][hapmap]
rs17453651	0.83[YRI][hapmap]
rs17475666	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs17475673	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs17476226	0.83[YRI][hapmap]
rs17476233	0.83[YRI][hapmap]
rs17476254	0.83[YRI][hapmap]
rs17476282	1.00[YRI][hapmap]
rs17476296	0.83[YRI][hapmap]
rs17504631	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs55712037	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322061	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
4	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:118931000-118934400	Weak transcription	Psoas Muscle	Psoas
6	chr8:118931000-118935000	Weak transcription	Pancreas	Pancrea
7	chr8:118931600-118934000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:118931800-118933200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:118931800-118933200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:118932000-118935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:118932400-118934000	Enhancers	Placenta	Placenta
12	chr8:118932400-118935200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:118932400-118935400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:118932400-118935400	Enhancers	NHDF-Ad	bronchial
15	chr8:118932600-118933200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:118932600-118933200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:118932600-118933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:118932600-118934000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:118932600-118934000	Enhancers	NH-A	brain
20	chr8:118932600-118934600	Enhancers	Fetal Lung	lung
21	chr8:118932600-118934600	Enhancers	NHLF	lung
22	chr8:118932600-118935000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:118932600-118935000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:118932600-118935000	Enhancers	Fetal Heart	heart
25	chr8:118932600-118935200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:118932600-118935200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:118932600-118935200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:118932600-118935400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:118932600-118937000	Enhancers	HSMM	muscle
30	chr8:118932800-118933200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:118932800-118933200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:118932800-118933200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:118932800-118933200	Enhancers	Gastric	stomach
34	chr8:118932800-118933200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:118932800-118933200	Enhancers	Stomach Mucosa	stomach
36	chr8:118932800-118933200	Enhancers	Hela-S3	cervix
37	chr8:118932800-118933400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:118932800-118933400	Flanking Active TSS	Osteobl	bone
39	chr8:118932800-118933600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:118932800-118933600	Enhancers	Fetal Intestine Small	intestine
41	chr8:118932800-118933600	Enhancers	Ovary	ovary
42	chr8:118932800-118933600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:118932800-118933600	Enhancers	HSMMtube	muscle
44	chr8:118932800-118933600	Flanking Active TSS	NHEK	skin
45	chr8:118932800-118933800	Enhancers	Adipose Nuclei	Adipose
46	chr8:118932800-118934000	Enhancers	HMEC	breast
47	chr8:118932800-118934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:118932800-118934400	Enhancers	Aorta	Aorta
49	chr8:118932800-118934600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:118932800-118934600	Enhancers	GM12878-XiMat	blood

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