Variant report

Variant	rs73704912
Chromosome Location	chr8:126307492-126307493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126306226..126307841-chr8:126440492..126443071,2	K562	blood:
2	chr8:126306802..126309917-chr8:126312229..126314853,3	MCF-7	breast:
3	chr8:126300520..126302327-chr8:126305625..126307763,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11985468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988647	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990560	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995477	1.00[AMR][1000 genomes]
rs11998130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28516407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704916	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7826327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126298400-126312800	Weak transcription	Gastric	stomach
5	chr8:126301800-126307600	Weak transcription	Left Ventricle	heart
6	chr8:126301800-126309400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:126301800-126312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:126301800-126312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126301800-126314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:126302000-126309400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:126302000-126310600	Weak transcription	NH-A	brain
13	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
14	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:126303000-126308400	Weak transcription	HUVEC	blood vessel
17	chr8:126303000-126310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:126303000-126312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:126303000-126314600	Weak transcription	Right Atrium	heart
20	chr8:126303200-126314400	Weak transcription	Fetal Intestine Small	intestine
21	chr8:126303400-126309000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:126304600-126308400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:126304800-126308200	Enhancers	Fetal Heart	heart
24	chr8:126305400-126307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:126305600-126312600	Weak transcription	Fetal Thymus	thymus
26	chr8:126306000-126307600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:126306400-126307800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:126306600-126308000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:126306800-126307600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:126306800-126309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:126307000-126307600	Enhancers	HepG2	liver
32	chr8:126307000-126307800	Flanking Active TSS	GM12878-XiMat	blood
33	chr8:126307000-126308000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:126307200-126314600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:126307400-126308000	Enhancers	Psoas Muscle	Psoas
36	chr8:126307400-126308800	Weak transcription	A549	lung

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