Variant report

Variant	rs12232964
Chromosome Location	chr2:33739556-33739557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12233054	0.82[ASN][1000 genomes]
rs12475635	0.83[ASN][1000 genomes]
rs3754825	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12232964	FAM98A	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	chr2:33729800-33740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33731400-33740200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:33735400-33743800	Weak transcription	NHDF-Ad	bronchial
9	chr2:33735400-33761800	Weak transcription	Spleen	Spleen
10	chr2:33735600-33740000	Weak transcription	Fetal Heart	heart
11	chr2:33735800-33740200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:33735800-33746800	Weak transcription	Psoas Muscle	Psoas
13	chr2:33735800-33746800	Weak transcription	Right Ventricle	heart
14	chr2:33735800-33754800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:33736200-33740000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:33736200-33740600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:33736200-33742600	Weak transcription	Gastric	stomach
18	chr2:33736400-33741800	Weak transcription	Brain Angular Gyrus	brain
19	chr2:33736600-33740000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:33737000-33743800	Strong transcription	Primary B cells from cord blood	blood
21	chr2:33737000-33744400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:33737400-33740400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:33737400-33749800	Strong transcription	GM12878-XiMat	blood
24	chr2:33737600-33760800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:33738000-33740000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:33738600-33740200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:33738800-33740000	Weak transcription	Left Ventricle	heart
29	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:33739200-33740200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:33739200-33740200	Weak transcription	HUVEC	blood vessel
32	chr2:33739200-33741600	Weak transcription	Brain Substantia Nigra	brain
33	chr2:33739200-33747000	Weak transcription	Fetal Kidney	kidney
34	chr2:33739200-33761800	Weak transcription	Fetal Muscle Trunk	muscle

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