Variant report

Variant	rs2385456
Chromosome Location	chr8:124593007-124593008
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124576148..124579059-chr8:124591482..124593021,2	MCF-7	breast:
2	chr8:124589966..124594613-chr8:124606326..124610133,5	MCF-7	breast:
3	chr8:124591963..124593742-chr8:124625579..124627436,2	MCF-7	breast:
4	chr8:124591472..124593907-chr8:124596529..124599826,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253286	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10105316	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17253999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2385455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28445658	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28484830	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28490211	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613586	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28825116	0.87[ASN][1000 genomes]
rs35066700	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871390	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4871392	0.86[ASN][1000 genomes]
rs4871394	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55987314	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62520905	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470155	0.80[JPT][hapmap]
rs6996389	0.81[JPT][hapmap]
rs72711208	0.95[ASN][1000 genomes]
rs72711214	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814093	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2385456	TMEM65	cis	parietal	SCAN
rs2385456	DSCC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124575600-124598600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:124589600-124593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:124590800-124597000	Weak transcription	HSMMtube	muscle
4	chr8:124591000-124594600	Enhancers	Fetal Intestine Small	intestine
5	chr8:124591600-124593800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:124591600-124594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:124591600-124594000	Enhancers	Fetal Heart	heart
8	chr8:124591600-124594200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:124591600-124594400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:124591800-124593400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:124591800-124593800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:124591800-124594200	Enhancers	Osteobl	bone
13	chr8:124592000-124593200	Weak transcription	Psoas Muscle	Psoas
14	chr8:124592000-124593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:124592200-124593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124592200-124593400	Weak transcription	A549	lung
17	chr8:124592200-124594000	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:124592200-124594000	Enhancers	HepG2	liver
19	chr8:124592400-124593200	Weak transcription	Pancreas	Pancrea
20	chr8:124592400-124593400	Weak transcription	HUVEC	blood vessel
21	chr8:124592400-124594000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:124592400-124594400	Enhancers	Fetal Intestine Large	intestine
23	chr8:124592800-124593800	Enhancers	Aorta	Aorta
24	chr8:124592800-124594200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:124592800-124596200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:124593000-124593600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:124593000-124595800	Weak transcription	HMEC	breast

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