Variant report

Variant	rs208680
Chromosome Location	chr11:34454074-34454075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34452850..34454607-chr11:34455028..34457800,2	K562	blood:
2	chr11:34447027..34448601-chr11:34452775..34454471,2	MCF-7	breast:
3	chr11:34452352..34457130-chr11:34458043..34461797,6	K562	blood:

Variant related genes	Relation type
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1014749	0.80[ASN][1000 genomes]
rs1033509	0.90[ASN][1000 genomes]
rs1071880	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10742316	0.90[ASN][1000 genomes]
rs12421999	0.82[ASN][1000 genomes]
rs16925614	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16925662	0.80[ASN][1000 genomes]
rs16925668	0.80[ASN][1000 genomes]
rs2076556	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs208675	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208677	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208681	1.00[CEU][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]
rs208682	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208683	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300182	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2746169	0.90[ASN][1000 genomes]
rs4755374	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4756146	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4756151	0.81[ASN][1000 genomes]
rs4756155	0.80[ASN][1000 genomes]
rs4756156	0.80[ASN][1000 genomes]
rs489554	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5026711	0.90[ASN][1000 genomes]
rs554518	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55633825	0.80[ASN][1000 genomes]
rs55665450	0.86[ASN][1000 genomes]
rs55941777	0.80[ASN][1000 genomes]
rs56291727	0.80[ASN][1000 genomes]
rs564250	0.99[ASN][1000 genomes]
rs7102889	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7106485	0.81[ASN][1000 genomes]
rs7109778	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7115064	0.80[ASN][1000 genomes]
rs7126085	0.80[ASN][1000 genomes]
rs7126243	0.80[ASN][1000 genomes]
rs7130331	0.80[ASN][1000 genomes]
rs7130345	0.80[ASN][1000 genomes]
rs72923163	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72924903	0.84[ASN][1000 genomes]
rs72927347	0.80[ASN][1000 genomes]
rs7395059	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7928060	0.81[ASN][1000 genomes]
rs7928866	0.84[ASN][1000 genomes]
rs7938373	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs208680	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs208680	CAT	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
2	chr11:34446600-34455000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:34449000-34455000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:34449400-34455000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:34449400-34459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:34449600-34454400	Weak transcription	NHEK	skin
7	chr11:34449600-34459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:34450000-34455200	Weak transcription	Liver	Liver
9	chr11:34450000-34457600	Weak transcription	NHDF-Ad	bronchial
10	chr11:34451200-34457800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:34451800-34455000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:34453400-34456200	Enhancers	K562	blood
13	chr11:34453800-34456400	Enhancers	HepG2	liver
14	chr11:34453800-34457600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:34453800-34459000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:34453800-34459200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:34454000-34456000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:34454000-34459000	Weak transcription	Primary B cells from cord blood	blood

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