Variant report

Variant	rs17149279
Chromosome Location	chr8:9195638-9195639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9007894..9008784-chr8:9195169..9196375,4	MCF-7	breast:
2	chr8:8887023..8887982-chr8:9195505..9196570,5	K562	blood:
3	chr8:9177871..9178799-chr8:9195168..9196018,3	MCF-7	breast:
4	chr8:8922930..8923887-chr8:9195546..9196445,3	K562	blood:
5	chr8:8886723..8887985-chr8:9195522..9196377,3	MCF-7	breast:
6	chr8:9177828..9179105-chr8:9195409..9196219,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10089120	0.85[AMR][1000 genomes]
rs10095404	1.00[YRI][hapmap]
rs10098803	0.85[YRI][hapmap]
rs11782481	0.82[ASN][1000 genomes]
rs12545582	0.83[ASN][1000 genomes]
rs12546962	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12548931	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12550519	0.90[JPT][hapmap]
rs12677965	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1461727	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1461728	0.93[ASN][1000 genomes]
rs1461730	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17149791	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17149797	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17149807	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17149817	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2199403	0.90[ASN][1000 genomes]
rs28457812	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55960276	0.87[AMR][1000 genomes]
rs56731460	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61198364	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6990912	0.91[ASN][1000 genomes]
rs7836983	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9329185	0.89[ASN][1000 genomes]
rs9329191	0.90[AMR][1000 genomes]
rs9329192	0.87[YRI][hapmap]
rs958374	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv6073	chr8:9189800-9234741	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv890341	chr8:9192927-9243428	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:9189400-9199800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:9192200-9196200	Enhancers	Brain Hippocampus Middle	brain
3	chr8:9193000-9196400	Enhancers	Fetal Heart	heart
4	chr8:9193600-9196000	Enhancers	Left Ventricle	heart
5	chr8:9193600-9197000	Enhancers	Liver	Liver
6	chr8:9194400-9196200	Enhancers	Fetal Stomach	stomach
7	chr8:9194600-9196000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:9194600-9196000	Enhancers	Right Ventricle	heart
9	chr8:9194800-9195800	Weak transcription	Placenta	Placenta
10	chr8:9194800-9195800	Enhancers	Right Atrium	heart
11	chr8:9194800-9196200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:9194800-9196200	Enhancers	Ovary	ovary
13	chr8:9195000-9196000	Enhancers	Fetal Lung	lung
14	chr8:9195200-9195800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:9195200-9195800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:9195400-9195800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:9195400-9195800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:9195400-9195800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:9195400-9195800	Enhancers	Lung	lung
20	chr8:9195400-9195800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:9195400-9196000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:9195400-9196000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:9195400-9196000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:9195400-9196000	Enhancers	Brain Anterior Caudate	brain
25	chr8:9195400-9196000	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:9195400-9196000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:9195400-9196000	Enhancers	Brain Substantia Nigra	brain
28	chr8:9195400-9196200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:9195400-9196200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:9195400-9196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:9195400-9196200	Enhancers	Fetal Intestine Large	intestine
32	chr8:9195400-9196200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:9195600-9196000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:9195600-9196000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:9195600-9196000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:9195600-9196000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:9195600-9196000	Enhancers	Brain Angular Gyrus	brain
38	chr8:9195600-9196000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:9195600-9196000	Enhancers	Small Intestine	intestine
40	chr8:9195600-9196200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:9195600-9196200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:9195600-9196200	Enhancers	Adipose Nuclei	Adipose

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