Variant report

Variant	rs9918315
Chromosome Location	chr6:12954485-12954486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:12954460-12954610	HFF-Myc	foreskin:	n/a	n/a

Variant related genes	Relation type
PHACTR1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57008197	1.00[AFR][1000 genomes]
rs58423965	1.00[AFR][1000 genomes]
rs60783028	0.91[AFR][1000 genomes]
rs9473074	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9473076	1.00[AFR][1000 genomes]
rs9473078	1.00[AFR][1000 genomes]
rs9918386	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv5202	chr6:12916229-12958517	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12945600-12954600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12945600-12957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:12950600-12957000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:12950800-12956800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:12952000-12956800	Weak transcription	Right Ventricle	heart
6	chr6:12952000-12957400	Weak transcription	Left Ventricle	heart
7	chr6:12952600-12954600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:12952600-12956200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:12952600-12956800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:12952600-12957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:12952800-12957000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:12953000-12956600	Weak transcription	Fetal Brain Female	brain
13	chr6:12953000-12957400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:12953000-12957400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:12953200-12956400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:12953200-12956600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:12953200-12956600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:12953200-12957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:12953200-12957000	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:12953200-12957400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:12953400-12956200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:12953400-12956200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:12953400-12956600	Weak transcription	Fetal Brain Male	brain
24	chr6:12953400-12956600	Weak transcription	Fetal Stomach	stomach
25	chr6:12953400-12957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:12953800-12954800	Flanking Active TSS	Fetal Heart	heart
27	chr6:12954000-12954800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:12954200-12954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:12954200-12954800	Enhancers	HSMM	muscle
30	chr6:12954400-12954600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:12954400-12954600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:12954400-12954800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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