Variant report

Variant	rs4739068
Chromosome Location	chr8:64106534-64106535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64078842..64081296-chr8:64104717..64107616,2	MCF-7	breast:
2	chr8:64106160..64109170-chr8:64112814..64116314,3	K562	blood:

Variant related genes	Relation type
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10957275	0.82[EUR][1000 genomes]
rs12542182	0.82[EUR][1000 genomes]
rs12542741	0.80[EUR][1000 genomes]
rs12547669	0.80[EUR][1000 genomes]
rs12549833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12550793	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12677153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12678231	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241753	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34803356	0.80[EUR][1000 genomes]
rs3857972	0.82[EUR][1000 genomes]
rs3929126	0.82[EUR][1000 genomes]
rs4601308	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737633	0.87[EUR][1000 genomes]
rs4739053	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4739066	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61223024	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983011	0.82[EUR][1000 genomes]
rs7000495	0.82[EUR][1000 genomes]
rs7000788	0.82[EUR][1000 genomes]
rs7000927	0.82[EUR][1000 genomes]
rs7001014	0.82[EUR][1000 genomes]
rs7011111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73254967	0.82[EUR][1000 genomes]
rs73254968	0.82[EUR][1000 genomes]
rs73684686	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73684689	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686707	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73686709	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643383	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643384	0.82[EUR][1000 genomes]
rs9643556	0.82[EUR][1000 genomes]
rs9643557	0.82[EUR][1000 genomes]
rs9643558	0.82[EUR][1000 genomes]
rs9643559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64090000-64108200	Weak transcription	Fetal Heart	heart
2	chr8:64097000-64108200	Weak transcription	Right Atrium	heart
3	chr8:64100000-64108200	Weak transcription	Pancreas	Pancrea
4	chr8:64100000-64118800	Weak transcription	Esophagus	oesophagus
5	chr8:64100200-64108200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:64100200-64108200	Weak transcription	Gastric	stomach
7	chr8:64100400-64107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:64100400-64112600	Weak transcription	Stomach Mucosa	stomach
9	chr8:64100600-64107600	Weak transcription	Right Ventricle	heart
10	chr8:64100600-64113200	Weak transcription	Hela-S3	cervix
11	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
12	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:64100800-64106600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:64100800-64113000	Weak transcription	HSMMtube	muscle
15	chr8:64101000-64108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:64101200-64107600	Weak transcription	Spleen	Spleen
17	chr8:64101200-64108200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:64101200-64117200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:64101400-64108200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:64101600-64106600	Weak transcription	Left Ventricle	heart
21	chr8:64101600-64107200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:64101600-64108200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
24	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:64102200-64106600	Weak transcription	Lung	lung
26	chr8:64102200-64112400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:64102400-64106600	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:64102400-64107200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:64102400-64108000	Weak transcription	Fetal Brain Male	brain
30	chr8:64103400-64107400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:64103400-64108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:64103400-64111800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:64103400-64115800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:64103400-64119800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
36	chr8:64103600-64106800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:64103600-64107200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:64103600-64108200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:64103600-64108400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:64103600-64111800	Weak transcription	HepG2	liver
41	chr8:64103600-64112600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:64103600-64115000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:64103600-64119800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:64103600-64120600	Weak transcription	Dnd41	blood
45	chr8:64103600-64121400	Weak transcription	Fetal Thymus	thymus
46	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
47	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:64103800-64107000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:64103800-64107200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:64103800-64108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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