Variant report

Variant	rs586768
Chromosome Location	chr11:65129345-65129346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65120990..65127077-chr11:65127483..65130928,8	K562	blood:
2	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
3	chr11:65128463..65130666-chr11:65147462..65149967,2	MCF-7	breast:
4	chr11:65120610..65125735-chr11:65127487..65133123,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000173825	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12271615	1.00[MKK][hapmap];0.90[YRI][hapmap]
rs2904966	0.91[LWK][hapmap]
rs586706	0.92[AFR][1000 genomes]
rs615768	1.00[AFR][1000 genomes]
rs620427	0.84[LWK][hapmap]
rs681440	1.00[AFR][1000 genomes]
rs7926131	0.89[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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65123400-65131200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:65123400-65143600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:65123600-65143800	Weak transcription	Thymus	Thymus
4	chr11:65123800-65134200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:65124000-65133800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:65124200-65129600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:65125600-65134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:65125800-65133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:65126000-65131200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:65126400-65134000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:65127600-65129800	Weak transcription	Fetal Thymus	thymus
14	chr11:65127600-65139200	Weak transcription	Left Ventricle	heart
15	chr11:65127800-65129800	Weak transcription	HepG2	liver
16	chr11:65127800-65134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:65127800-65134000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:65128600-65134000	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:65129000-65129600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:65129000-65130000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:65129200-65129800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr11:65129200-65129800	Weak transcription	Spleen	Spleen
23	chr11:65129200-65129800	Enhancers	GM12878-XiMat	blood
24	chr11:65129200-65129800	Enhancers	K562	blood
25	chr11:65129200-65129800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:65129200-65131200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:65129200-65131400	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:65129200-65131400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:65129200-65132000	Enhancers	Primary monocytes fromperipheralblood	blood

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