Variant report

Variant	rs11989315
Chromosome Location	chr8:91690525-91690526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91687150..91691411-chr8:91769036..91770944,3	MCF-7	breast:
2	chr8:91655789..91659978-chr8:91686080..91690997,6	K562	blood:
3	chr8:91664367..91664991-chr8:91689704..91690623,2	MCF-7	breast:
4	chr8:91652941..91663346-chr8:91680436..91690653,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10046610	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10046655	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10046723	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10092379	0.83[AMR][1000 genomes]
rs10102274	0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs10103195	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs10504897	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10504899	0.82[CEU][hapmap];0.91[AMR][1000 genomes]
rs10504900	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11986094	1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs11994308	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16893366	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905044	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16905150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905310	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16905319	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16905331	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17717748	0.82[EUR][1000 genomes]
rs28394575	0.86[ASN][1000 genomes]
rs4265146	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4339599	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4500048	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4571698	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59253454	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60664481	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60690249	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61312544	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61441737	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6471253	0.82[CEU][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6984689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994987	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011031	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7011691	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs7011692	0.91[EUR][1000 genomes]
rs7013400	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7017389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301574	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73301578	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301581	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301593	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73305518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73307288	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311066	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311068	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311083	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311086	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311089	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73311093	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7815900	0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7823529	1.00[CHB][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9297885	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91683800-91691000	Weak transcription	Placenta	Placenta
2	chr8:91683800-91691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:91684200-91691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:91688800-91691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:91688800-91693400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:91688800-91694000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:91689000-91691200	Weak transcription	Fetal Lung	lung
8	chr8:91689000-91691600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:91689000-91693400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:91689000-91693600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:91689400-91694000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:91689600-91690800	Weak transcription	NHDF-Ad	bronchial
13	chr8:91689600-91691600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:91689800-91691600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:91689800-91691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:91689800-91691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:91690000-91691200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:91690000-91691400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:91690000-91691600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:91690400-91690600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr8:91690400-91690600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:91690400-91690600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:91690400-91691600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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