Variant report

Variant	rs17430694
Chromosome Location	chr8:118928996-118928997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:

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]
rs17430728	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:118922800-118932800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:118923200-118933000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:118923800-118930000	Weak transcription	Pancreas	Pancrea
6	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
7	chr8:118924000-118932800	Weak transcription	Ovary	ovary
8	chr8:118924000-118933000	Weak transcription	Lung	lung
9	chr8:118926000-118931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:118926000-118932800	Weak transcription	HSMMtube	muscle
11	chr8:118926400-118929800	Weak transcription	Aorta	Aorta
12	chr8:118926400-118930800	Weak transcription	NHLF	lung
13	chr8:118926400-118932200	Weak transcription	NHEK	skin
14	chr8:118926400-118932600	Weak transcription	HSMM	muscle
15	chr8:118926400-118932600	Weak transcription	NH-A	brain
16	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:118927200-118932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:118927400-118932800	Weak transcription	Liver	Liver
19	chr8:118928200-118932600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:118928400-118929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:118928400-118929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:118928600-118929000	Enhancers	GM12878-XiMat	blood
23	chr8:118928600-118930000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:118928600-118930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:118928600-118930600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:118928600-118932800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:118928800-118929800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:118928800-118929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:118928800-118929800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:118928800-118929800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:118928800-118929800	Weak transcription	NHDF-Ad	bronchial
32	chr8:118928800-118929800	Weak transcription	Osteobl	bone
33	chr8:118928800-118930000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:118928800-118930000	Weak transcription	Right Atrium	heart
35	chr8:118928800-118930400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:118928800-118931800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:118928800-118932800	Weak transcription	A549	lung

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