Variant report

Variant	rs4755765
Chromosome Location	chr11:33643373-33643374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33639712..33641762-chr11:33643100..33644997,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1033543	0.86[MEX][hapmap]
rs1073655	0.83[MEX][hapmap]
rs10742300	0.83[MEX][hapmap]
rs1474782	0.83[EUR][1000 genomes]
rs4142963	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4333997	0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs4755237	0.82[MEX][hapmap]
rs4755766	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4755767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4755769	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4755770	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4755771	0.84[CEU][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs768474	0.87[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs7949170	0.87[MEX][hapmap]

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	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4755765	C11orf41	cis	cerebellum	SCAN
rs4755765	PAMR1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33594600-33644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:33627200-33643400	Weak transcription	HSMMtube	muscle
3	chr11:33633800-33652400	Weak transcription	Fetal Brain Female	brain
4	chr11:33634600-33643800	Weak transcription	HUVEC	blood vessel
5	chr11:33635000-33644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:33638800-33644800	Enhancers	HMEC	breast
7	chr11:33640600-33666400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:33640800-33645400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:33640800-33673600	Weak transcription	Fetal Brain Male	brain
10	chr11:33641000-33644400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:33641200-33644400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:33641400-33645000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:33641600-33643600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:33641600-33644200	Enhancers	NHDF-Ad	bronchial
15	chr11:33641600-33644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:33641800-33644600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:33642000-33643400	Enhancers	Brain Substantia Nigra	brain
18	chr11:33642000-33644400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:33642000-33644400	Enhancers	NH-A	brain
20	chr11:33642000-33644600	Enhancers	Osteobl	bone
21	chr11:33642400-33643800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:33642400-33644400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:33642400-33644400	Enhancers	NHLF	lung
24	chr11:33642400-33644800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:33642600-33644400	Enhancers	HSMM	muscle
26	chr11:33642600-33644600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:33642600-33673600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:33642800-33645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:33642800-33657400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:33643000-33643600	Weak transcription	Adipose Nuclei	Adipose
31	chr11:33643000-33643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:33643000-33645400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:33643000-33645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:33643000-33673600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:33643200-33646000	Enhancers	Fetal Muscle Leg	muscle

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