Variant report

Variant	rs12475635
Chromosome Location	chr2:33743181-33743182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12232964	0.83[ASN][1000 genomes]
rs12233054	0.90[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs3754823	0.85[JPT][hapmap]
rs3754825	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597095	0.84[CEU][hapmap];0.90[CHB][hapmap];0.88[EUR][1000 genomes];0.80[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	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
rs12475635	FAM98A	Cis_1M	lymphoblastoid	RTeQTL
rs12475635	RASGRP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 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	chr2:33735400-33743800	Weak transcription	NHDF-Ad	bronchial
7	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
8	chr2:33735800-33746800	Weak transcription	Psoas Muscle	Psoas
9	chr2:33735800-33746800	Weak transcription	Right Ventricle	heart
10	chr2:33735800-33754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:33737000-33743800	Strong transcription	Primary B cells from cord blood	blood
12	chr2:33737000-33744400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:33737400-33749800	Strong transcription	GM12878-XiMat	blood
14	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:33739200-33747000	Weak transcription	Fetal Kidney	kidney
18	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:33740000-33744000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:33740000-33752000	Weak transcription	Lung	lung
21	chr2:33740200-33743800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:33740800-33746200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:33740800-33746600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:33740800-33746800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:33740800-33751200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:33740800-33754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:33741000-33746200	Weak transcription	Fetal Heart	heart
29	chr2:33742400-33746600	Weak transcription	Brain Angular Gyrus	brain
30	chr2:33742600-33743400	Strong transcription	Brain Substantia Nigra	brain
31	chr2:33742600-33746000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:33742600-33746600	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:33742800-33744200	Strong transcription	Left Ventricle	heart
34	chr2:33742800-33746600	Weak transcription	Adipose Nuclei	Adipose

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