Variant report

Variant	rs218924
Chromosome Location	chr8:90746832-90746833
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90742416..90744281-chr8:90745142..90746926,3	MCF-7	breast:
2	chr8:90744391..90748036-chr8:90768454..90770594,4	MCF-7	breast:
3	chr8:90744912..90747575-chr8:90768585..90770314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087807	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097279	0.93[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10100184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10102596	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10113478	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs10504881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16900429	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs16900627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs16900650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs16900684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs1978129	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2158131	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218906	1.00[CEU][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs218911	0.80[ASN][1000 genomes]
rs218926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218930	1.00[EUR][1000 genomes]
rs218931	1.00[EUR][1000 genomes]
rs218933	1.00[EUR][1000 genomes]
rs218937	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218939	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28565967	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28657795	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56017098	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60569724	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6981112	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73291423	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293110	0.84[ASN][1000 genomes]
rs73694475	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814056	0.93[EUR][1000 genomes]
rs7844627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297722	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs9297727	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	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
7	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
rs218924	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90739200-90748800	Weak transcription	A549	lung
7	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:90741600-90749000	Weak transcription	Gastric	stomach
9	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:90742000-90747000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:90742600-90747600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:90742600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:90742600-90749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:90742800-90748200	Weak transcription	K562	blood
16	chr8:90742800-90749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:90742800-90749200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
19	chr8:90743000-90749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:90743200-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:90745000-90754600	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:90745600-90747800	Weak transcription	Fetal Stomach	stomach
23	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:90746600-90747400	Weak transcription	Liver	Liver

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