Variant report

Variant	rs2124439
Chromosome Location	chr2:33743805-33743806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10200743	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2305573	0.86[CEU][hapmap];0.94[CHB][hapmap];0.86[EUR][1000 genomes]
rs3856497	0.86[YRI][hapmap]
rs4561642	0.82[CHB][hapmap]
rs4670648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4670659	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs6729792	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7565568	0.86[CEU][hapmap];0.94[CHB][hapmap]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2124439	FAM98A	Cis_1M	lymphoblastoid	RTeQTL
rs2124439	RASGRP3	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
7	chr2:33735800-33746800	Weak transcription	Psoas Muscle	Psoas
8	chr2:33735800-33746800	Weak transcription	Right Ventricle	heart
9	chr2:33735800-33754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:33737000-33744400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:33737400-33749800	Strong transcription	GM12878-XiMat	blood
12	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:33739200-33747000	Weak transcription	Fetal Kidney	kidney
16	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:33740000-33744000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:33740000-33752000	Weak transcription	Lung	lung
19	chr2:33740800-33746200	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:33740800-33746600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:33740800-33746800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:33740800-33751200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:33740800-33754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:33741000-33746200	Weak transcription	Fetal Heart	heart
26	chr2:33742400-33746600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:33742600-33746000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:33742600-33746600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:33742800-33744200	Strong transcription	Left Ventricle	heart
30	chr2:33742800-33746600	Weak transcription	Adipose Nuclei	Adipose
31	chr2:33743400-33746600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:33743800-33744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33743800-33744600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:33743800-33744800	Enhancers	NHDF-Ad	bronchial
35	chr2:33743800-33745600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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