Variant report

Variant	rs609218
Chromosome Location	chr11:73358174-73358175
allele	A/C
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	NRF1	chr11:73358173-73358987	SK-N-SH	brain:	n/a	chr11:73358513-73358522 chr11:73358702-73358713 chr11:73358702-73358716
2	MAZ	chr11:73357984-73359368	IMR90	lung:	n/a	chr11:73358623-73358633 chr11:73358597-73358607
3	POLR2A	chr11:73357005-73359060	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73350129..73352943-chr11:73358005..73360556,2	MCF-7	breast:
2	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000054965	Chromatin interaction
ENSG00000270323	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11235831	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235835	0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235836	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235837	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11823400	1.00[TSI][hapmap]
rs11827951	1.00[TSI][hapmap]
rs12273310	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273355	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274744	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295455	1.00[TSI][hapmap]
rs1278292	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132260	1.00[TSI][hapmap]
rs1784498	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784499	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509065	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2512634	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016498	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55696411	1.00[EUR][1000 genomes]
rs581888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593056	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593927	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs597784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598219	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623566	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623595	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639139	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640153	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs642610	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643464	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs674995	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676346	1.00[TSI][hapmap]
rs676375	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676390	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs676402	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683076	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73350000-73358600	Weak transcription	Right Atrium	heart
2	chr11:73353000-73358200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:73356200-73358600	Enhancers	Placenta	Placenta
4	chr11:73356200-73358800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:73356600-73358400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:73356600-73358600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:73356600-73358600	Enhancers	Right Ventricle	heart
9	chr11:73356600-73359000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr11:73356600-73359000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr11:73356800-73358600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73357000-73358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:73357000-73358200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:73357000-73358200	Weak transcription	Fetal Kidney	kidney
16	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
17	chr11:73357200-73358200	Enhancers	Brain Anterior Caudate	brain
18	chr11:73357200-73358200	Weak transcription	Fetal Heart	heart
19	chr11:73357200-73358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:73357200-73359200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:73357200-73359200	Enhancers	Spleen	Spleen
22	chr11:73357200-73364000	Weak transcription	Liver	Liver
23	chr11:73357400-73358200	Enhancers	Primary T cells from cord blood	blood
24	chr11:73357400-73358200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:73357400-73358600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:73357400-73358800	Enhancers	Stomach Mucosa	stomach
27	chr11:73357600-73358200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:73357600-73358200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr11:73357600-73358400	Enhancers	Thymus	Thymus
30	chr11:73357600-73358600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr11:73357600-73358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73357600-73358600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:73357800-73358200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr11:73357800-73358200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:73357800-73358200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:73357800-73358200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr11:73357800-73358200	Enhancers	HepG2	liver
38	chr11:73357800-73358400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:73357800-73358600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:73357800-73358600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:73357800-73358600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:73357800-73358600	Weak transcription	Gastric	stomach
43	chr11:73357800-73358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:73357800-73358800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:73357800-73359000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:73357800-73359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:73357800-73359200	Enhancers	Esophagus	oesophagus
48	chr11:73357800-73359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:73358000-73358200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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