Variant report

Variant	rs1033543
Chromosome Location	chr11:33667333-33667334
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	chr11:32450252..32452924-chr11:33665235..33667527,2	K562	blood:
2	chr11:33667138..33667889-chr11:33850774..33851566,2	K562	blood:

Variant related genes	Relation type
ENSG00000184937	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1033542	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1073655	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742298	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10742299	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10742300	1.00[ASW][hapmap];0.82[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10742301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10768013	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836087	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836088	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1569763	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4755237	0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs4755765	0.86[MEX][hapmap]
rs4755771	0.91[MEX][hapmap]
rs7106651	0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7114092	0.82[MEX][hapmap]
rs7115033	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117579	1.00[ASW][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs768474	1.00[ASW][hapmap];0.80[CEU][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs7949170	1.00[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs1033543	PAMR1	cis	parietal	SCAN
rs1033543	C11orf41	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33640800-33673600	Weak transcription	Fetal Brain Male	brain
2	chr11:33642600-33673600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:33643000-33673600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:33656800-33673600	Weak transcription	NH-A	brain
5	chr11:33657400-33673600	Weak transcription	HSMMtube	muscle
6	chr11:33657800-33673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:33657800-33688400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:33658600-33667600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:33662600-33667400	Weak transcription	Left Ventricle	heart
10	chr11:33662800-33668600	Weak transcription	Right Atrium	heart
11	chr11:33663400-33673600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:33664800-33670200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:33665400-33673000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:33665400-33673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:33665600-33673400	Weak transcription	HSMM	muscle
16	chr11:33665800-33691600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:33666400-33668000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:33666400-33668400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:33666400-33668800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:33666400-33668800	Strong transcription	Brain Germinal Matrix	brain
21	chr11:33666600-33668400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:33666600-33673000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:33666800-33668800	Enhancers	Adipose Nuclei	Adipose
24	chr11:33666800-33677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:33667000-33667600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:33667200-33667600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:33667200-33667600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:33667200-33668000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:33667200-33668200	Strong transcription	Fetal Brain Female	brain

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