Variant report

Variant	rs73339658
Chromosome Location	chr8:124173007-124173008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124172170..124173373-chr8:124203108..124203740,5	MCF-7	breast:
2	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
3	chr8:124171651..124174347-chr8:124191271..124192791,2	MCF-7	breast:
4	chr3:64674543..64675446-chr8:124172470..124173272,2	MCF-7	breast:
5	chr8:124172763..124173313-chr8:124193922..124194776,2	MCF-7	breast:
6	chr8:124172440..124173389-chr8:124775729..124776620,2	MCF-7	breast:
7	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
8	chr8:124172665..124173321-chr8:124204596..124205175,2	MCF-7	breast:
9	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
10	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
11	chr8:124172234..124173328-chr8:124232518..124233542,12	MCF-7	breast:
12	chr8:124172180..124173617-chr8:124232329..124233727,43	MCF-7	breast:
13	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
14	chr8:124171361..124173486-chr8:124193492..124195637,4	MCF-7	breast:
15	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
16	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
17	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
18	chr8:124172226..124173291-chr8:124203205..124204142,6	MCF-7	breast:
19	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
20	chr10:62506708..62507282-chr8:124172451..124173316,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147689	Chromatin interaction
ENSG00000253410	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000221461	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10096350	0.86[EUR][1000 genomes]
rs10111810	0.95[EUR][1000 genomes]
rs11992152	0.82[EUR][1000 genomes]
rs16898043	0.87[EUR][1000 genomes]
rs16898076	0.84[EUR][1000 genomes]
rs17315999	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17316158	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17323510	0.86[EUR][1000 genomes]
rs28513831	0.84[EUR][1000 genomes]
rs28528232	0.84[EUR][1000 genomes]
rs28537152	0.82[EUR][1000 genomes]
rs28670850	0.84[EUR][1000 genomes]
rs4282551	0.86[EUR][1000 genomes]
rs4377946	0.86[EUR][1000 genomes]
rs57165742	0.86[EUR][1000 genomes]
rs57902736	0.82[EUR][1000 genomes]
rs58177772	0.84[EUR][1000 genomes]
rs58189203	0.86[EUR][1000 genomes]
rs59229243	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59428574	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59834873	0.84[EUR][1000 genomes]
rs60827294	0.84[EUR][1000 genomes]
rs61422480	0.84[EUR][1000 genomes]
rs62521797	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62521799	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62521801	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62521803	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62521805	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62521806	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521807	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521808	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521826	0.86[EUR][1000 genomes]
rs6983795	0.86[EUR][1000 genomes]
rs6988636	0.86[EUR][1000 genomes]
rs6989108	0.80[EUR][1000 genomes]
rs7002021	0.86[EUR][1000 genomes]
rs7002332	0.86[EUR][1000 genomes]
rs73339621	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73339623	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73339626	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9987352	0.84[EUR][1000 genomes]
rs9987357	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv521469	chr8:124172895-124177926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124170200-124173400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:124172400-124173200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:124172400-124173200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:124172400-124173400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124172400-124173400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:124172400-124173400	Flanking Active TSS	Hela-S3	cervix
7	chr8:124172400-124173400	Flanking Active TSS	NHEK	skin
8	chr8:124172400-124173600	Enhancers	Fetal Brain Male	brain
9	chr8:124172400-124174000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:124172400-124174000	Active TSS	Brain Anterior Caudate	brain
11	chr8:124172600-124173200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:124172600-124173200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:124172600-124173200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:124172600-124173200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:124172600-124173200	Active TSS	A549	lung
16	chr8:124172600-124173200	Flanking Bivalent TSS/Enh	Dnd41	blood
17	chr8:124172600-124173200	Active TSS	NH-A	brain
18	chr8:124172600-124173400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:124172600-124173400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:124172600-124173400	Active TSS	Fetal Intestine Large	intestine
21	chr8:124172600-124173400	Flanking Active TSS	HMEC	breast
22	chr8:124172600-124173400	Active TSS	HSMM	muscle
23	chr8:124172600-124173600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:124172600-124173600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:124172600-124173600	Active TSS	Colon Smooth Muscle	Colon
26	chr8:124172600-124173800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr8:124172600-124173800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:124172600-124173800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:124172600-124173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr8:124172600-124173800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr8:124172600-124173800	Active TSS	Primary T cells from cord blood	blood
32	chr8:124172600-124173800	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:124172600-124173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:124172600-124173800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:124172600-124173800	Active TSS	Brain Angular Gyrus	brain
37	chr8:124172600-124173800	Active TSS	Brain Cingulate Gyrus	brain
38	chr8:124172600-124173800	Active TSS	Brain Germinal Matrix	brain
39	chr8:124172600-124173800	Active TSS	Fetal Brain Female	brain
40	chr8:124172600-124173800	Active TSS	Fetal Kidney	kidney
41	chr8:124172600-124173800	Active TSS	Right Atrium	heart
42	chr8:124172600-124173800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr8:124172600-124173800	Active TSS	Thymus	Thymus
44	chr8:124172600-124174000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:124172600-124174000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr8:124172600-124174000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:124172600-124174000	Active TSS	Osteobl	bone
48	chr8:124172800-124173200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:124172800-124173200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:124172800-124173200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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