Variant report

Variant	rs2295064
Chromosome Location	chr11:33680613-33680614
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	chr11:33674641..33678001-chr11:33680305..33683108,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10742302	0.81[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs10836085	0.81[CEU][hapmap]
rs10836094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836097	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs1096557	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11032332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032335	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032338	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11601472	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12226271	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280103	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574994	0.88[ASN][1000 genomes]
rs1321015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741020	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs3741021	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3781839	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs7101438	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs831622	0.84[EUR][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
rs2295064	RAG2	cis	parietal	SCAN
rs2295064	C11orf41	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33657800-33688400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:33665800-33691600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:33668400-33682400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:33668800-33685200	Weak transcription	HUVEC	blood vessel
5	chr11:33673800-33683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:33674000-33681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:33674000-33684600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:33674000-33686000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:33674000-33689800	Weak transcription	NH-A	brain
10	chr11:33674000-33690800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:33674200-33690000	Weak transcription	Fetal Brain Male	brain
12	chr11:33674400-33690800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:33674400-33691400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:33674400-33691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:33674600-33690800	Weak transcription	Psoas Muscle	Psoas
16	chr11:33674800-33700000	Weak transcription	Brain Angular Gyrus	brain
17	chr11:33675000-33681200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:33675400-33687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:33676000-33690800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:33677400-33682200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:33677400-33689400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:33677800-33689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33678600-33684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:33678800-33686400	Weak transcription	NHEK	skin
25	chr11:33678800-33686600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:33678800-33686800	Weak transcription	Esophagus	oesophagus
27	chr11:33678800-33695400	Weak transcription	Brain Anterior Caudate	brain
28	chr11:33679000-33681200	Weak transcription	Brain Germinal Matrix	brain
29	chr11:33679800-33681800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:33680000-33684400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:33680000-33691400	Weak transcription	Osteobl	bone
32	chr11:33680200-33681000	Weak transcription	Fetal Brain Female	brain
33	chr11:33680200-33685800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:33680400-33681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:33680400-33686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:33680400-33691600	Weak transcription	HSMMtube	muscle
37	chr11:33680400-33692000	Weak transcription	GM12878-XiMat	blood

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