Variant report

Variant	rs2220826
Chromosome Location	chr8:104281357-104281358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104279333..104281935-chr8:104310595..104312938,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2220826	SLC25A32	cis	cerebellum	SCAN
rs2220826	NACAP1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104268200-104283400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:104269000-104283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104269800-104283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:104269800-104283600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:104279200-104282600	Enhancers	NHDF-Ad	bronchial
6	chr8:104279400-104282000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:104279400-104282400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:104279400-104282600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:104279400-104282800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104279600-104282600	Enhancers	Osteobl	bone
11	chr8:104279600-104282800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:104279600-104282800	Enhancers	NHLF	lung
13	chr8:104279800-104281800	Enhancers	HSMM	muscle
14	chr8:104280000-104283400	Weak transcription	Aorta	Aorta
15	chr8:104280200-104283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:104280600-104281800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:104280600-104281800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:104280800-104281800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:104280800-104283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:104281000-104281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:104281000-104281800	Enhancers	Fetal Stomach	stomach
22	chr8:104281000-104281800	Enhancers	HUVEC	blood vessel
23	chr8:104281000-104282200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:104281000-104282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:104281200-104281400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:104281200-104281400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:104281200-104281800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:104281200-104281800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:104281200-104281800	Enhancers	Adipose Nuclei	Adipose
30	chr8:104281200-104282000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:104281200-104282200	Enhancers	NH-A	brain

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