Variant report

Variant	rs73262688
Chromosome Location	chr8:68402879-68402880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68250610..68251504-chr8:68402662..68403659,2	K562	blood:
2	chr8:68395910..68398286-chr8:68401570..68404368,2	MCF-7	breast:
3	chr8:68251532..68252494-chr8:68402207..68403101,6	K562	blood:
4	chr8:68251300..68252521-chr8:68402191..68403364,14	MCF-7	breast:
5	chr8:68402626..68403151-chr8:68689434..68690093,2	MCF-7	breast:
6	chr8:68251413..68252448-chr8:68402437..68403190,6	MCF-7	breast:
7	chr8:68254537..68256412-chr8:68401208..68404099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271966	Chromatin interaction
ENSG00000066777	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10957389	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984622	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11994817	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12115004	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1393897	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1566769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933341	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1812678	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1847292	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3824270	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4386963	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57070848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57097218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57185404	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57312956	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57438989	0.85[ASN][1000 genomes]
rs57714056	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57836294	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58637111	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59607772	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606572	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61142861	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61220075	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61679446	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6415606	0.85[ASN][1000 genomes]
rs6472300	0.85[ASN][1000 genomes]
rs6472301	0.85[ASN][1000 genomes]
rs6472302	0.85[ASN][1000 genomes]
rs6472303	0.85[ASN][1000 genomes]
rs6472306	0.85[ASN][1000 genomes]
rs6472307	0.85[ASN][1000 genomes]
rs6472308	0.85[ASN][1000 genomes]
rs6472314	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6651314	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992371	0.85[ASN][1000 genomes]
rs7005010	0.85[ASN][1000 genomes]
rs7018199	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73262624	0.85[ASN][1000 genomes]
rs73262636	0.85[ASN][1000 genomes]
rs73262638	0.85[ASN][1000 genomes]
rs73262648	0.85[ASN][1000 genomes]
rs73262665	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262680	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262691	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262695	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73262696	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73264707	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264769	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264774	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264780	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264784	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264792	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73264794	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824691	0.85[ASN][1000 genomes]
rs7839073	0.85[ASN][1000 genomes]
rs7842960	0.85[ASN][1000 genomes]
rs7844794	0.85[ASN][1000 genomes]
rs966593	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs966594	0.94[EUR][1000 genomes];0.91[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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68398800-68403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:68401600-68403000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:68402200-68403000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:68402200-68403000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr8:68402200-68403200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:68402200-68403200	Enhancers	HSMMtube	muscle
7	chr8:68402200-68403400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:68402200-68403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:68402200-68405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:68402400-68403200	Enhancers	Colon Smooth Muscle	Colon
11	chr8:68402400-68403200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:68402400-68405600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:68402600-68403000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:68402600-68403000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:68402600-68403600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:68402600-68404200	Weak transcription	Fetal Lung	lung
17	chr8:68402600-68404200	Weak transcription	NHDF-Ad	bronchial
18	chr8:68402600-68404600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:68402600-68404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:68402600-68404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:68402600-68405000	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:68402600-68405400	Weak transcription	NHLF	lung
23	chr8:68402600-68405600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:68402800-68403000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:68402800-68403000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr8:68402800-68403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:68402800-68412400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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