Variant report

Variant	rs11777273
Chromosome Location	chr8:11455106-11455107
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	chr17:62223347..62226304-chr8:11454133..11456749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266402	Chromatin interaction
ENSG00000199753	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250140	1.00[ASN][1000 genomes]
rs11250146	1.00[CHB][hapmap]
rs11775149	1.00[ASN][1000 genomes]
rs11775150	1.00[ASN][1000 genomes]
rs11775779	1.00[CHB][hapmap]
rs11776834	1.00[CHB][hapmap]
rs11780851	1.00[ASN][1000 genomes]
rs11780980	1.00[CHB][hapmap]
rs11781400	1.00[CHB][hapmap]
rs11784016	1.00[CHB][hapmap]
rs12155745	1.00[ASN][1000 genomes]
rs12155794	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12156238	1.00[CHB][hapmap]
rs12386974	1.00[ASN][1000 genomes]
rs13248109	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13250871	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13272061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13273172	0.87[AMR][1000 genomes]
rs13275864	1.00[ASN][1000 genomes]
rs13278965	0.86[AMR][1000 genomes]
rs13439415	1.00[CHB][hapmap]
rs1382567	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1478890	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1478898	1.00[ASN][1000 genomes]
rs1600250	1.00[ASN][1000 genomes]
rs1600252	1.00[ASN][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs17799486	1.00[ASN][1000 genomes]
rs2061830	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
rs2199690	1.00[ASN][1000 genomes]
rs2245232	1.00[CHB][hapmap]
rs2245250	1.00[ASN][1000 genomes]
rs2245357	1.00[ASN][1000 genomes]
rs2248315	1.00[ASN][1000 genomes]
rs2248316	1.00[ASN][1000 genomes]
rs2248325	1.00[ASN][1000 genomes]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2467520	1.00[ASN][1000 genomes]
rs2618434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2736342	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs35986297	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606022	1.00[CHB][hapmap]
rs4840567	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4840581	1.00[CHB][hapmap]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap]
rs4841567	1.00[CHB][hapmap]
rs4841569	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860742	1.00[ASN][1000 genomes]
rs6601599	1.00[ASN][1000 genomes]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs7822109	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7829381	1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap]
rs978802	1.00[ASN][1000 genomes]
rs978803	1.00[ASN][1000 genomes]
rs978804	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11777273	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs11777273	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11777273	FLJ10661	cis	cerebellum	SCAN
rs11777273	NEIL2	cis	lymphoblastoid	seeQTL
rs11777273	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11450400-11456000	Enhancers	Ovary	ovary
2	chr8:11451600-11456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:11452200-11456600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:11453600-11458600	Weak transcription	Right Atrium	heart
5	chr8:11453800-11457400	Enhancers	Pancreas	Pancrea
6	chr8:11454400-11455400	Bivalent Enhancer	Placenta	Placenta
7	chr8:11454600-11455200	Enhancers	Adipose Nuclei	Adipose
8	chr8:11454600-11455600	Enhancers	HSMMtube	muscle
9	chr8:11454600-11456000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:11454600-11456000	Enhancers	HepG2	liver
11	chr8:11454800-11455600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:11455000-11455200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:11455000-11455400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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