Variant report

Variant	rs73291423
Chromosome Location	chr8:90762490-90762491
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	chr8:90760271..90762627-chr8:90995330..90996985,2	MCF-7	breast:
2	chr8:90757887..90760826-chr8:90762391..90763974,2	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10087807	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097279	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100184	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10102596	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504881	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16900429	0.94[EUR][1000 genomes]
rs16900627	0.91[ASN][1000 genomes]
rs16900650	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16900684	0.86[ASN][1000 genomes]
rs1978129	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158131	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218906	0.80[ASN][1000 genomes]
rs218911	0.80[ASN][1000 genomes]
rs218924	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218926	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218927	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218930	0.98[EUR][1000 genomes]
rs218931	0.98[EUR][1000 genomes]
rs218933	0.98[EUR][1000 genomes]
rs218937	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218939	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28565967	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28657795	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56017098	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60569724	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6981112	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73293110	0.84[ASN][1000 genomes]
rs73694475	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814056	0.94[EUR][1000 genomes]
rs7844627	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297727	0.84[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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73291423	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:90749600-90768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:90749800-90767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90749800-90768000	Weak transcription	Left Ventricle	heart
7	chr8:90749800-90768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:90750000-90769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:90755000-90767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:90755200-90766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:90755400-90766400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:90755600-90766600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:90756400-90764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:90756400-90769200	Weak transcription	Pancreas	Pancrea
15	chr8:90758400-90769000	Weak transcription	Ovary	ovary
16	chr8:90759400-90766800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:90760000-90768200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:90760200-90766400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:90760200-90768000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:90760400-90766200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:90760400-90767800	Weak transcription	Fetal Lung	lung
22	chr8:90760600-90768800	Weak transcription	Fetal Kidney	kidney
23	chr8:90760600-90769000	Weak transcription	HSMM	muscle
24	chr8:90761800-90766600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:90762000-90767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:90762000-90767400	Weak transcription	Fetal Heart	heart
27	chr8:90762200-90762600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:90762200-90762600	ZNF genes & repeats	Aorta	Aorta
29	chr8:90762200-90766800	Weak transcription	HUVEC	blood vessel
30	chr8:90762400-90762600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:90762400-90762600	ZNF genes & repeats	Fetal Stomach	stomach
32	chr8:90762400-90762600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr8:90762400-90763600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr8:90762400-90763800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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