Variant report

Variant	rs8180987
Chromosome Location	chr8:103551385-103551386
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:45990214..45992945-chr8:103550491..103553250,2	MCF-7	breast:
2	chr8:103545241..103546971-chr8:103549394..103552114,2	MCF-7	breast:
3	chr8:103540168..103543141-chr8:103550290..103553115,2	MCF-7	breast:
4	chr8:103549075..103551753-chr8:103552917..103555861,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253633	Chromatin interaction
ENSG00000252593	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1000672	0.81[JPT][hapmap]
rs16869509	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16869534	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs34524601	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62523267	0.86[AMR][1000 genomes]
rs62524851	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
2	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
3	chr8:103548400-103551400	Weak transcription	Left Ventricle	heart
4	chr8:103548800-103551800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:103549000-103553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:103549200-103553400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:103549600-103551400	Weak transcription	Psoas Muscle	Psoas
8	chr8:103549600-103551600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:103549600-103553200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:103549600-103553400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:103549800-103551600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:103549800-103553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:103550000-103551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:103550000-103552200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:103550200-103551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:103550200-103551400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:103550200-103551400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:103550200-103551800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:103550200-103552000	Weak transcription	NHLF	lung
20	chr8:103550200-103553400	Weak transcription	Fetal Brain Female	brain
21	chr8:103550200-103553800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:103550400-103551400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:103550400-103551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:103550400-103551600	Weak transcription	NHEK	skin
25	chr8:103550400-103551800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:103550400-103552000	Enhancers	A549	lung
27	chr8:103550400-103552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:103550400-103552200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:103550400-103553600	Weak transcription	HSMMtube	muscle
30	chr8:103550400-103553600	Weak transcription	Osteobl	bone
31	chr8:103550400-103554800	Weak transcription	HSMM	muscle
32	chr8:103550600-103551400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:103550600-103551400	Weak transcription	Fetal Brain Male	brain
34	chr8:103550600-103552200	Enhancers	Hela-S3	cervix
35	chr8:103550600-103553200	Weak transcription	GM12878-XiMat	blood
36	chr8:103550600-103553400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:103550600-103553400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:103550600-103553400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:103550600-103554000	Weak transcription	Fetal Thymus	thymus
40	chr8:103550800-103552000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:103550800-103553200	Weak transcription	K562	blood
42	chr8:103550800-103553800	Weak transcription	NH-A	brain
43	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
44	chr8:103551000-103553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:103551000-103553600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:103551000-103556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:103551200-103556400	Weak transcription	Brain Germinal Matrix	brain

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