Variant report

Variant	rs549120
Chromosome Location	chr8:103083193-103083194
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	chr8:103082278..103084453-chr8:103115939..103117501,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12681819	1.00[CEU][hapmap]
rs583374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs658382	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103065400-103085800	Weak transcription	Primary T cells from cord blood	blood
2	chr8:103076600-103088800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:103076600-103089200	Weak transcription	NHDF-Ad	bronchial
4	chr8:103076800-103083200	Weak transcription	Right Ventricle	heart
5	chr8:103077000-103090400	Weak transcription	Aorta	Aorta
6	chr8:103080200-103084600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:103080400-103088000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:103080600-103084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103080600-103084400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:103080600-103091400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:103080800-103084600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103080800-103085800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:103080800-103091200	Weak transcription	Psoas Muscle	Psoas
14	chr8:103080800-103092800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:103081000-103087000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103081200-103084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:103082200-103083400	Enhancers	Ovary	ovary
18	chr8:103082400-103085400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:103082400-103090200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:103082600-103083600	Enhancers	Fetal Brain Female	brain
21	chr8:103082600-103083800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:103082600-103084600	Enhancers	Fetal Brain Male	brain
23	chr8:103082600-103086000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:103082800-103083400	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:103082800-103083600	Enhancers	Fetal Heart	heart
26	chr8:103082800-103083600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:103083000-103083400	Enhancers	Left Ventricle	heart

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