Variant report

Variant	rs12931204
Chromosome Location	chr16:65139396-65139397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:65134846..65136786-chr16:65138250..65139943,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11641230	0.86[AMR][1000 genomes];0.90[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	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12931204	C16orf70	cis	cerebellum	SCAN
rs12931204	FHOD1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65095800-65152000	Weak transcription	Fetal Intestine Large	intestine
2	chr16:65106200-65147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:65106400-65147600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr16:65106800-65151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:65113200-65141600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:65113800-65140400	Weak transcription	Fetal Brain Male	brain
7	chr16:65115800-65147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:65117400-65141000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:65120800-65148600	Weak transcription	Aorta	Aorta
10	chr16:65122200-65147400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr16:65126600-65140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:65129200-65148400	Weak transcription	Fetal Kidney	kidney
13	chr16:65130200-65147400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:65132600-65139400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:65133600-65141800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:65133800-65139800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:65134200-65140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:65134200-65148600	Weak transcription	HMEC	breast
19	chr16:65135400-65139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:65135400-65143600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:65136800-65141600	Weak transcription	NH-A	brain
22	chr16:65136800-65144600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:65137000-65141800	Weak transcription	Spleen	Spleen
24	chr16:65137000-65147400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr16:65137200-65139600	Weak transcription	HSMM	muscle
26	chr16:65137200-65141600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:65138200-65142200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:65138400-65139600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:65138400-65139800	Enhancers	Brain Hippocampus Middle	brain
30	chr16:65138400-65139800	Enhancers	Fetal Stomach	stomach
31	chr16:65138400-65140200	Genic enhancers	Fetal Lung	lung
32	chr16:65138800-65139600	Enhancers	Fetal Muscle Leg	muscle
33	chr16:65139000-65139400	Genic enhancers	Osteobl	bone
34	chr16:65139000-65139600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:65139000-65139600	Enhancers	HSMMtube	muscle
36	chr16:65139200-65139400	Flanking Active TSS	Ovary	ovary
37	chr16:65139200-65139600	Enhancers	Brain Substantia Nigra	brain
38	chr16:65139200-65139600	Enhancers	Fetal Heart	heart
39	chr16:65139200-65139600	Enhancers	NHDF-Ad	bronchial
40	chr16:65139200-65139800	Enhancers	Brain Anterior Caudate	brain
41	chr16:65139200-65139800	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links