Variant report

Variant	rs2742518
Chromosome Location	chr11:8934101-8934102
allele	A/C/G/T
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	YY1	chr11:8933878-8934145	K562	blood:	n/a	chr11:8933922-8933944 chr11:8933933-8933941 chr11:8933932-8933944
2	YY1	chr11:8933776-8934159	H1-hESC	embryonic stem cell:	n/a	chr11:8933922-8933944 chr11:8933933-8933941 chr11:8933932-8933944
3	MXI1	chr11:8931149-8934261	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:8934037-8934151	HepG2	liver:	n/a	n/a
5	ZNF384	chr11:8932558-8934324	K562	blood:	n/a	n/a
6	YY1	chr11:8933820-8934189	SK-N-SH_RA	brain:	n/a	chr11:8933922-8933944 chr11:8933933-8933941 chr11:8933932-8933944

No.	Distal block	Cell Line	Cell type
1	chr11:8930312..8934560-chr11:9023959..9026944,3	K562	blood:
2	chr11:8701763..8703828-chr11:8934006..8936271,2	K562	blood:
3	chr11:8702257..8705886-chr11:8931185..8934379,5	MCF-7	breast:
4	chr11:8891163..8893518-chr11:8931818..8934397,2	MCF-7	breast:
5	chr11:8723990..8726026-chr11:8932554..8934656,2	K562	blood:
6	chr11:8932589..8934691-chr11:10326254..10327939,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000253973	Chromatin interaction
ENSG00000175352	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000148926	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10769982	0.89[AMR][1000 genomes]
rs10840149	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042155	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1989143	1.00[EUR][1000 genomes]
rs2195812	1.00[EUR][1000 genomes]
rs2256067	1.00[EUR][1000 genomes]
rs2262323	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2436178	1.00[EUR][1000 genomes]
rs2455603	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs2568021	0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568023	1.00[EUR][1000 genomes]
rs2568024	1.00[EUR][1000 genomes]
rs2568026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568027	0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568030	1.00[EUR][1000 genomes]
rs2568036	0.90[AMR][1000 genomes]
rs2568041	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2568055	1.00[EUR][1000 genomes]
rs2568058	1.00[EUR][1000 genomes]
rs2568060	1.00[EUR][1000 genomes]
rs2568063	1.00[EUR][1000 genomes]
rs2568072	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568083	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653561	0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653563	1.00[EUR][1000 genomes]
rs2653570	0.82[YRI][hapmap]
rs2653571	1.00[EUR][1000 genomes]
rs2653579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653583	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653584	1.00[EUR][1000 genomes]
rs2653585	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653588	0.93[YRI][hapmap]
rs2653600	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653605	0.82[YRI][hapmap]
rs2653608	1.00[EUR][1000 genomes]
rs2653614	1.00[EUR][1000 genomes]
rs2653615	1.00[EUR][1000 genomes]
rs2742469	1.00[EUR][1000 genomes]
rs2742479	0.82[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742480	0.81[YRI][hapmap]
rs2742482	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742507	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742508	1.00[EUR][1000 genomes]
rs2742526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742539	1.00[EUR][1000 genomes]
rs2742543	1.00[EUR][1000 genomes]
rs2742551	1.00[EUR][1000 genomes]
rs3105215	0.88[AFR][1000 genomes]
rs6416158	1.00[EUR][1000 genomes]
rs6416159	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104415	1.00[EUR][1000 genomes]
rs73410028	1.00[EUR][1000 genomes]
rs73410031	1.00[EUR][1000 genomes]
rs73410040	1.00[EUR][1000 genomes]
rs7395934	1.00[EUR][1000 genomes]
rs7396042	0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396427	1.00[EUR][1000 genomes]
rs7479998	1.00[EUR][1000 genomes]
rs7925728	0.82[YRI][hapmap]
rs7932678	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7936297	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950826	0.89[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8931400-8934200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:8931600-8934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:8931600-8935200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:8931800-8934200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:8931800-8934200	Active TSS	Fetal Brain Female	brain
6	chr11:8931800-8934200	Active TSS	Fetal Kidney	kidney
7	chr11:8931800-8934200	Active TSS	Thymus	Thymus
8	chr11:8931800-8934400	Active TSS	Brain Substantia Nigra	brain
9	chr11:8932000-8934200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:8932000-8934400	Active TSS	GM12878-XiMat	blood
11	chr11:8932200-8934400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:8932200-8934400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:8932200-8934400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:8933000-8934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:8933000-8934200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:8933000-8934200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:8933200-8934200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr11:8933400-8934200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:8933400-8934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:8933400-8934400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:8933400-8935000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:8933400-8935000	Weak transcription	Gastric	stomach
23	chr11:8933400-8935000	Weak transcription	Spleen	Spleen
24	chr11:8933400-8935200	Weak transcription	Stomach Mucosa	stomach
25	chr11:8933400-8935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:8933400-8936400	Weak transcription	Lung	lung
27	chr11:8933400-8938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
29	chr11:8933600-8934200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr11:8933600-8934400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:8933600-8934600	Enhancers	Primary B cells from cord blood	blood
32	chr11:8933600-8935400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:8933600-8935600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr11:8933600-8935600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:8933600-8938000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:8933600-8944000	Weak transcription	Pancreas	Pancrea
37	chr11:8933800-8934200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:8933800-8934200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:8933800-8934200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:8933800-8934200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:8933800-8934200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr11:8933800-8934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:8933800-8934200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:8933800-8934200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr11:8933800-8934200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:8933800-8934200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:8933800-8934200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr11:8933800-8934200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr11:8933800-8934200	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr11:8933800-8934200	Flanking Active TSS	Brain Germinal Matrix	brain

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