Variant report

Variant	rs6984725
Chromosome Location	chr8:103773369-103773370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103662668..103675478-chr8:103749144..103775802,85	MCF-7	breast:
2	chr8:103770707..103773666-chr8:103800102..103801821,3	MCF-7	breast:
3	chr8:103760932..103779637-chr8:103816413..103823932,43	MCF-7	breast:
4	chr8:103767561..103771444-chr8:103771777..103777513,6	MCF-7	breast:
5	chr8:103766291..103774512-chr8:103816859..103823821,31	MCF-7	breast:
6	chr8:103766487..103768450-chr8:103773089..103775997,2	K562	blood:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2513897	0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6984725	RIMS2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103762400-103774200	Weak transcription	Aorta	Aorta
2	chr8:103767000-103774800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:103767200-103774200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:103767200-103774400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:103767200-103779000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:103769200-103774200	Weak transcription	Right Atrium	heart
7	chr8:103770200-103774200	Weak transcription	Pancreas	Pancrea
8	chr8:103770200-103776200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:103770200-103776800	Weak transcription	Fetal Thymus	thymus
10	chr8:103770800-103774000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:103771200-103774200	Weak transcription	Lung	lung
12	chr8:103771200-103776000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:103771200-103776200	Weak transcription	Osteobl	bone
14	chr8:103771400-103774000	Weak transcription	HepG2	liver
15	chr8:103771400-103774200	Weak transcription	Esophagus	oesophagus
16	chr8:103771400-103774400	Weak transcription	Spleen	Spleen
17	chr8:103771600-103773800	Weak transcription	Hela-S3	cervix
18	chr8:103771600-103774000	Weak transcription	Fetal Lung	lung
19	chr8:103771600-103776600	Weak transcription	NHEK	skin
20	chr8:103771800-103773800	Weak transcription	HMEC	breast
21	chr8:103771800-103774000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:103772000-103773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:103772000-103773800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:103772000-103774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:103772000-103776600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:103772400-103780200	Weak transcription	A549	lung

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