Variant report

Variant	rs2443572
Chromosome Location	chr8:99190858-99190859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99187877..99192656-chr8:99304827..99308425,6	MCF-7	breast:
2	chr8:99189856..99193042-chr8:99195160..99197940,6	MCF-7	breast:
3	chr8:99182400..99185674-chr8:99186631..99191623,6	MCF-7	breast:
4	chr8:99189024..99192093-chr8:99304658..99307811,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13277523	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv14716	chr8:99169690-99199971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99178600-99191000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:99182600-99191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:99184400-99191200	Weak transcription	Ovary	ovary
4	chr8:99188200-99191000	Weak transcription	Esophagus	oesophagus
5	chr8:99188800-99192600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:99188800-99192600	Enhancers	NHDF-Ad	bronchial
7	chr8:99188800-99193400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:99189200-99192200	Enhancers	Fetal Heart	heart
9	chr8:99189800-99191400	Enhancers	Right Ventricle	heart
10	chr8:99190000-99192600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:99190000-99192600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:99190000-99192800	Enhancers	NHLF	lung
13	chr8:99190400-99191200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:99190400-99191600	Enhancers	Left Ventricle	heart
15	chr8:99190400-99192200	Enhancers	Right Atrium	heart
16	chr8:99190400-99192400	Enhancers	Osteobl	bone
17	chr8:99190400-99192600	Enhancers	Adipose Nuclei	Adipose
18	chr8:99190600-99192200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:99190600-99192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:99190600-99192600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:99190800-99191400	Weak transcription	Spleen	Spleen
22	chr8:99190800-99191400	Enhancers	A549	lung
23	chr8:99190800-99191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:99190800-99192200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99190800-99192200	Enhancers	Fetal Intestine Large	intestine
26	chr8:99190800-99192200	Enhancers	NH-A	brain
27	chr8:99190800-99192800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:99190800-99192800	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:99190800-99194000	Weak transcription	Lung	lung

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