Variant report

Variant	rs17337621
Chromosome Location	chr8:124542519-124542520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124538493..124543378-chr8:124543876..124547558,8	MCF-7	breast:
2	chr8:124541073..124543333-chr8:124545616..124548578,2	K562	blood:
3	chr8:124540299..124544028-chr8:124575261..124578367,3	MCF-7	breast:
4	chr8:124495401..124497169-chr8:124542001..124544223,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs140613	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17255071	0.91[AMR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17340040	0.91[AMR][1000 genomes]
rs62518433	0.84[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520871	0.91[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520908	0.91[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521286	0.95[EUR][1000 genomes]
rs62521287	0.95[EUR][1000 genomes]
rs62521288	0.93[EUR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521292	0.84[AMR][1000 genomes]
rs62523171	1.00[AFR][1000 genomes]
rs6999582	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];0.91[AMR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
2	chr8:124515600-124543600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:124530000-124547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:124530000-124547600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:124530400-124546200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:124531000-124546000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124532200-124542800	Genic enhancers	Colon Smooth Muscle	Colon
8	chr8:124532200-124543600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:124533400-124543600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:124534400-124543600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:124535400-124543600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:124535600-124543600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:124536400-124545600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:124536600-124543600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:124536800-124545600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:124537200-124543600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:124537600-124543400	Weak transcription	Colonic Mucosa	Colon
19	chr8:124538000-124543600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:124538200-124545400	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr8:124538200-124547200	Weak transcription	Small Intestine	intestine
22	chr8:124538400-124546800	Weak transcription	Stomach Mucosa	stomach
23	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
24	chr8:124538800-124545000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr8:124538800-124545600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr8:124539200-124546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:124539400-124542800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:124539800-124542800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:124540000-124542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:124540200-124542800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124540200-124542800	Enhancers	NHEK	skin
32	chr8:124540200-124545600	Strong transcription	Brain Hippocampus Middle	brain
33	chr8:124540400-124542800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:124540400-124542800	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr8:124540400-124545200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:124540400-124545400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:124540600-124545000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:124540800-124543600	Weak transcription	Psoas Muscle	Psoas
39	chr8:124541200-124542600	Enhancers	A549	lung
40	chr8:124541200-124542800	Genic enhancers	Rectal Smooth Muscle	rectum
41	chr8:124541200-124546600	Weak transcription	Fetal Lung	lung
42	chr8:124541400-124543800	Genic enhancers	HMEC	breast
43	chr8:124541600-124542800	Genic enhancers	Primary T cells from cord blood	blood
44	chr8:124541600-124542800	Enhancers	Dnd41	blood
45	chr8:124541600-124542800	Enhancers	Hela-S3	cervix
46	chr8:124541600-124542800	Genic enhancers	Osteobl	bone
47	chr8:124541800-124542600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:124541800-124542800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:124541800-124543800	Enhancers	Placenta	Placenta
50	chr8:124541800-124545600	Strong transcription	Rectal Mucosa Donor 29	rectum

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