Variant report

Variant	rs1435458
Chromosome Location	chr8:64084388-64084389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr8:64084024-64084480	GM12878	blood:	n/a	n/a
2	EP300	chr8:64084281-64084607	GM12878	blood:	n/a	chr8:64084534-64084543
3	POLR2A	chr8:64083968-64084524	MCF10A-Er-Src	breast:	n/a	n/a
4	BATF	chr8:64084143-64084403	GM12878	blood:	n/a	chr8:64084298-64084309
5	POLR2A	chr8:64081889-64085432	K562	blood:	n/a	n/a
6	BATF	chr8:64084148-64084423	GM12878	blood:	n/a	chr8:64084298-64084309
7	ATF2	chr8:64084073-64084567	GM12878	blood:	n/a	n/a
8	EBF1	chr8:64084197-64084414	GM12878	blood:	n/a	n/a
9	RUNX3	chr8:64084064-64084502	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64080072..64082539-chr8:64083012..64086362,4	MCF-7	breast:
2	chr13:40276171..40277739-chr8:64083128..64085038,2	MCF-7	breast:

Variant related genes	Relation type
YTHDF3-AS1	TF binding region
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10957277	1.00[ASW][hapmap];0.81[CEU][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11785601	0.85[CHD][hapmap]
rs12677532	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs13439842	0.81[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1435457	1.00[ASW][hapmap];0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217827	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739067	0.81[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6993229	0.89[ASW][hapmap];0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7000981	1.00[ASW][hapmap];0.81[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7002089	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7464	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv890966	chr8:64073650-64099240	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64080200-64084400	Active TSS	Psoas Muscle	Psoas
2	chr8:64081800-64085200	Weak transcription	Spleen	Spleen
3	chr8:64082000-64092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:64082000-64098800	Weak transcription	Esophagus	oesophagus
5	chr8:64082000-64099000	Weak transcription	Gastric	stomach
6	chr8:64082200-64085200	Weak transcription	Pancreas	Pancrea
7	chr8:64082200-64088800	Weak transcription	Left Ventricle	heart
8	chr8:64082200-64092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:64082200-64098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:64082200-64098600	Weak transcription	Lung	lung
11	chr8:64082400-64084400	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr8:64082400-64084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:64082400-64085800	Weak transcription	Aorta	Aorta
14	chr8:64082400-64098800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:64082600-64084400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:64082600-64084400	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:64082600-64084400	Active TSS	Ovary	ovary
18	chr8:64082600-64085000	Weak transcription	Right Ventricle	heart
19	chr8:64082600-64085200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:64082600-64085200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:64082600-64085800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:64082600-64086200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:64082600-64089000	Weak transcription	Fetal Stomach	stomach
24	chr8:64082600-64090200	Weak transcription	Thymus	Thymus
25	chr8:64082600-64098600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:64082600-64098600	Weak transcription	Colonic Mucosa	Colon
27	chr8:64082800-64084400	Enhancers	Rectal Smooth Muscle	rectum
28	chr8:64082800-64084400	Transcr. at gene 5' and 3'	A549	lung
29	chr8:64082800-64084600	Genic enhancers	Fetal Lung	lung
30	chr8:64082800-64084800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:64082800-64085400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:64082800-64086800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:64082800-64087200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr8:64082800-64087200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:64082800-64087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:64082800-64088200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:64082800-64098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:64083000-64084800	Genic enhancers	Rectal Mucosa Donor 29	rectum
39	chr8:64083000-64086200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:64083000-64087200	Enhancers	Fetal Heart	heart
41	chr8:64083000-64098600	Weak transcription	Fetal Kidney	kidney
42	chr8:64083200-64084400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:64083200-64084400	Genic enhancers	Brain Anterior Caudate	brain
44	chr8:64083200-64084400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
45	chr8:64083200-64085400	Genic enhancers	Primary B cells from cord blood	blood
46	chr8:64083200-64085800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:64083200-64086400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:64083400-64084400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:64083400-64084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:64083400-64084400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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