Variant report

Variant	rs571910342
Chromosome Location	chr8:86263549-86263550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr8:86263043-86264327	MCF-7	breast:	n/a	n/a
2	GATA3	chr8:86263526-86264314	MCF-7	breast:	n/a	n/a
3	STAT3	chr8:86263204-86263560	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CA1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86244800-86263600	Weak transcription	Fetal Intestine Large	intestine
2	chr8:86257600-86264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:86259400-86263600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:86261600-86265400	Enhancers	Fetal Lung	lung
5	chr8:86261800-86263600	Enhancers	Ovary	ovary
6	chr8:86261800-86265200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:86261800-86265400	Enhancers	Adipose Nuclei	Adipose
8	chr8:86262000-86264600	Weak transcription	Esophagus	oesophagus
9	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:86262400-86263600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:86262400-86265400	Enhancers	Fetal Muscle Leg	muscle
12	chr8:86262600-86263600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:86262800-86263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:86263000-86264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:86263000-86264200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:86263200-86263600	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr8:86263200-86264000	Enhancers	Fetal Stomach	stomach
19	chr8:86263200-86264200	Weak transcription	Psoas Muscle	Psoas
20	chr8:86263200-86265000	Enhancers	Left Ventricle	heart
21	chr8:86263400-86263800	Enhancers	Rectal Mucosa Donor 29	rectum

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