Variant report

Variant	rs7127811
Chromosome Location	chr11:65127401-65127402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17145218	0.83[EUR][1000 genomes]
rs2269224	1.00[ASN][1000 genomes]
rs2307266	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4149830	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4647575	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4647576	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647577	0.97[EUR][1000 genomes]
rs4647587	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647599	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57994718	0.81[EUR][1000 genomes]
rs60763559	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60933608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61732319	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736579	1.00[ASN][1000 genomes]
rs73482271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947014	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950149	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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:27 , 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	chr11:65123800-65129200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:65123800-65134200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:65124000-65129000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:65124000-65129000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65124000-65129200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:65124000-65133800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:65124200-65129600	Weak transcription	Brain Angular Gyrus	brain
11	chr11:65124400-65127800	Enhancers	Fetal Intestine Small	intestine
12	chr11:65125400-65127800	Enhancers	Fetal Intestine Large	intestine
13	chr11:65125600-65129200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:65125600-65134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:65125800-65133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:65126000-65129200	Weak transcription	K562	blood
17	chr11:65126000-65131200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:65126400-65134000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:65127000-65127600	Enhancers	Left Ventricle	heart
20	chr11:65127000-65127800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:65127200-65127600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:65127200-65127800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65127200-65127800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:65127200-65141400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:65127200-65143800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:65127400-65127600	Enhancers	Fetal Thymus	thymus
27	chr11:65127400-65127600	Enhancers	HepG2	liver

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