Variant report

Variant	rs17254069
Chromosome Location	chr8:124592466-124592467
allele	C/T
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10087106	0.85[AMR][1000 genomes]
rs140613	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17254421	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17255071	1.00[AMR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17338860	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17340040	1.00[AMR][1000 genomes]
rs62518433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520906	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62520908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520924	0.85[AMR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62521292	0.86[EUR][1000 genomes]
rs62523171	1.00[AFR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7004159	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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

No data

Chromatin state (count:33 , 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	chr8:124588400-124592800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:124589600-124593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124590800-124593000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:124590800-124597000	Weak transcription	HSMMtube	muscle
6	chr8:124591000-124594600	Enhancers	Fetal Intestine Small	intestine
7	chr8:124591600-124593000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:124591600-124593000	Enhancers	NHDF-Ad	bronchial
9	chr8:124591600-124593800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124591600-124594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:124591600-124594000	Enhancers	Fetal Heart	heart
12	chr8:124591600-124594200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:124591600-124594400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:124591800-124592800	Enhancers	Hela-S3	cervix
15	chr8:124591800-124593400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:124591800-124593800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124591800-124594200	Enhancers	Osteobl	bone
18	chr8:124592000-124592600	Enhancers	HSMM	muscle
19	chr8:124592000-124593000	Enhancers	HMEC	breast
20	chr8:124592000-124593200	Weak transcription	Psoas Muscle	Psoas
21	chr8:124592000-124593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:124592200-124592600	Enhancers	NHEK	skin
23	chr8:124592200-124592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:124592200-124592800	Enhancers	Placenta	Placenta
25	chr8:124592200-124593000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:124592200-124593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:124592200-124593400	Weak transcription	A549	lung
28	chr8:124592200-124594000	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:124592200-124594000	Enhancers	HepG2	liver
30	chr8:124592400-124593200	Weak transcription	Pancreas	Pancrea
31	chr8:124592400-124593400	Weak transcription	HUVEC	blood vessel
32	chr8:124592400-124594000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:124592400-124594400	Enhancers	Fetal Intestine Large	intestine

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