Variant report

Variant	rs208683
Chromosome Location	chr11:34455975-34455976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:34455185-34456020	MCF-7	breast:	n/a	n/a
2	CEBPB	chr11:34455730-34456022	K562	blood:	n/a	n/a
3	MAFK	chr11:34455558-34455978	HepG2	liver:	n/a	chr11:34455914-34455925 chr11:34455915-34455926 chr11:34455914-34455925 chr11:34455781-34455795 chr11:34455915-34455926
4	MAFF	chr11:34455720-34455977	HepG2	liver:	n/a	chr11:34455909-34455927

No.	Distal block	Cell Line	Cell type
1	chr11:34452131..34454607-chr11:34455028..34457800,3	K562	blood:
2	chr11:34452352..34457130-chr11:34458043..34461797,6	K562	blood:
3	chr11:34452850..34454607-chr11:34455028..34457800,2	K562	blood:

Variant related genes	Relation type
CAT	TF binding region
ENSG00000216708	Chromatin interaction
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1014749	0.80[ASN][1000 genomes]
rs1033509	0.90[ASN][1000 genomes]
rs10488737	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1071880	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10742316	0.90[ASN][1000 genomes]
rs10836244	0.85[GIH][hapmap]
rs12421999	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs16925614	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16925662	0.80[ASN][1000 genomes]
rs16925668	0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs16925678	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2076556	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs208675	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208677	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208680	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]
rs208681	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs208682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs2284368	0.85[GIH][hapmap]
rs2284369	0.85[GIH][hapmap]
rs2300182	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2420388	0.85[GIH][hapmap]
rs2746169	0.90[ASN][1000 genomes]
rs3758735	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs3758736	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs4755374	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4756146	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4756151	0.81[ASN][1000 genomes]
rs4756155	0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs4756156	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs489554	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5026711	0.83[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs554518	0.85[AMR][1000 genomes];0.92[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	0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7102889	1.00[ASW][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7104394	0.86[JPT][hapmap]
rs7106485	0.93[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7109462	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7109778	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7115064	0.80[ASN][1000 genomes]
rs7126085	0.80[ASN][1000 genomes]
rs7126243	0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7130331	0.86[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7130345	0.86[CHB][hapmap];0.85[JPT][hapmap];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]
rs769218	0.85[GIH][hapmap]
rs7928060	0.81[ASN][1000 genomes]
rs7928866	0.92[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7938373	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs942222	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.87[JPT][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs208683	CAT	cis	lymphoblastoid	seeQTL
rs208683	C11orf74	cis	cerebellum	SCAN
rs208683	CAT	cis	cerebellum	SCAN
rs208683	CAT	cis	parietal	SCAN
rs208683	CAT	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
2	chr11:34449400-34459600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:34449600-34459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:34450000-34457600	Weak transcription	NHDF-Ad	bronchial
5	chr11:34451200-34457800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:34453400-34456200	Enhancers	K562	blood
7	chr11:34453800-34456400	Enhancers	HepG2	liver
8	chr11:34453800-34457600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:34453800-34459000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:34453800-34459200	Weak transcription	Adipose Nuclei	Adipose
11	chr11:34454000-34456000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:34454000-34459000	Weak transcription	Primary B cells from cord blood	blood
13	chr11:34454600-34456000	Enhancers	Pancreas	Pancrea
14	chr11:34454800-34460000	Weak transcription	Lung	lung
15	chr11:34455000-34457400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:34455000-34457400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:34455000-34457400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:34455000-34457800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:34455200-34456400	Enhancers	Liver	Liver

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