Variant report

Variant	rs70940824
Chromosome Location	chr11:71950012-71950013
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71949479..71951633-chr11:72139393..72142208,2	K562	blood:
2	chr11:71822963..71824981-chr11:71949478..71951249,2	K562	blood:
3	chr11:71723194..71726024-chr11:71949814..71951680,2	K562	blood:
4	chr11:71736273..71736838-chr11:71948885..71950174,5	K562	blood:
5	chr11:71812888..71815663-chr11:71949421..71951331,2	MCF-7	breast:
6	chr11:71948375..71952014-chr11:71952052..71958381,8	MCF-7	breast:
7	chr11:71713190..71714745-chr11:71948791..71950410,2	K562	blood:

Variant related genes	Relation type
ENSG00000251143	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000165462	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11548491	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418533	0.94[ASN][1000 genomes]
rs2276046	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508199	0.94[ASN][1000 genomes]
rs2508201	0.85[ASN][1000 genomes]
rs2508865	0.85[ASN][1000 genomes]
rs3900852	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs477354	0.94[ASN][1000 genomes]
rs527905	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57614093	0.85[ASN][1000 genomes]
rs59509230	0.81[ASN][1000 genomes]
rs59612321	0.85[ASN][1000 genomes]
rs59980097	0.81[ASN][1000 genomes]
rs61736312	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110260	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116854	0.85[ASN][1000 genomes]
rs7130652	0.85[ASN][1000 genomes]
rs73528886	0.85[ASN][1000 genomes]
rs9886	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv555405	chr11:71944667-71952345	Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
4	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:71943000-71950400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:71946400-71954200	Weak transcription	K562	blood
7	chr11:71946600-71950400	Weak transcription	HepG2	liver
8	chr11:71947000-71950200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:71947200-71950200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:71948000-71950600	Weak transcription	HMEC	breast
11	chr11:71948200-71950200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:71948200-71950400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:71948400-71950200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:71948400-71950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:71948600-71950200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:71948600-71950400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:71948600-71950600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:71948800-71950600	Weak transcription	Aorta	Aorta
19	chr11:71948800-71950600	Bivalent Enhancer	Fetal Stomach	stomach
20	chr11:71949000-71950200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:71949000-71950400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:71949000-71950400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:71949000-71950400	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:71949000-71950600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:71949000-71950600	Enhancers	Brain Hippocampus Middle	brain
26	chr11:71949000-71950600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:71949000-71950600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:71949000-71950600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr11:71949000-71950600	Enhancers	Right Atrium	heart
30	chr11:71949000-71950600	Enhancers	Small Intestine	intestine
31	chr11:71949200-71950200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr11:71949200-71950400	Enhancers	Adipose Nuclei	Adipose
33	chr11:71949200-71950400	Weak transcription	Colonic Mucosa	Colon
34	chr11:71949200-71950400	Enhancers	Colon Smooth Muscle	Colon
35	chr11:71949200-71950400	Weak transcription	Left Ventricle	heart
36	chr11:71949200-71950400	Weak transcription	Pancreas	Pancrea
37	chr11:71949200-71950400	Weak transcription	Osteobl	bone
38	chr11:71949400-71950200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:71949400-71950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:71949400-71950400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:71949400-71950400	Weak transcription	Lung	lung
42	chr11:71949400-71950400	Weak transcription	Ovary	ovary
43	chr11:71949400-71950400	Weak transcription	HSMM	muscle
44	chr11:71949400-71950600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr11:71949400-71950600	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr11:71949400-71950600	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr11:71949400-71951200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr11:71949600-71950200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr11:71949600-71950200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr11:71949600-71950200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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