Variant report

Variant	rs4481616
Chromosome Location	chr8:126311069-126311070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126309031..126311192-chr8:126314077..126316163,2	K562	blood:
2	chr8:126295600..126298519-chr8:126310859..126313125,2	K562	blood:
3	chr8:126305198..126307115-chr8:126309185..126311282,2	MCF-7	breast:
4	chr8:126310853..126313276-chr8:126316044..126318835,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095360	0.96[ASN][1000 genomes]
rs10101690	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108305	0.89[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10112737	0.84[JPT][hapmap]
rs10956234	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956235	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10956236	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16900488	0.81[JPT][hapmap]
rs4279612	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4294203	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4350000	0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs4464986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565472	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6415490	0.81[ASN][1000 genomes]
rs6470346	0.93[ASN][1000 genomes]
rs6985411	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991820	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995986	0.81[JPT][hapmap]
rs7008046	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7011185	0.86[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017794	0.93[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7812933	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813432	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843098	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844459	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7845165	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs9297714	0.83[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr8:126298400-126312800	Weak transcription	Gastric	stomach
4	chr8:126301800-126312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:126301800-126312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126301800-126314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
9	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:126303000-126312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:126303000-126314600	Weak transcription	Right Atrium	heart
13	chr8:126303200-126314400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:126305600-126312600	Weak transcription	Fetal Thymus	thymus
15	chr8:126307200-126314600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:126307600-126312800	Weak transcription	HepG2	liver
17	chr8:126307800-126311600	Enhancers	GM12878-XiMat	blood
18	chr8:126308000-126312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:126308000-126314600	Weak transcription	Left Ventricle	heart
20	chr8:126308000-126314600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
22	chr8:126308600-126314600	Weak transcription	Fetal Kidney	kidney
23	chr8:126309000-126311200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:126309200-126312800	Weak transcription	Osteobl	bone
25	chr8:126309200-126314800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:126309200-126319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:126309800-126314400	Weak transcription	Fetal Heart	heart
28	chr8:126309800-126315000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:126309800-126315000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:126310000-126312800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:126310000-126319200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:126310400-126311200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:126310400-126311600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:126310400-126311800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:126310600-126311200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:126310600-126311200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:126310600-126311200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:126310600-126311200	Enhancers	NH-A	brain
39	chr8:126310600-126311200	Enhancers	NHLF	lung
40	chr8:126310600-126311600	Enhancers	HUVEC	blood vessel
41	chr8:126310800-126312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:126310800-126312800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:126310800-126315000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:126310800-126315400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:126311000-126311800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:126311000-126312800	Weak transcription	A549	lung

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