Variant report

Variant	rs9380755
Chromosome Location	chr6:38472126-38472127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38470131..38472161-chr6:38480038..38482429,2	K562	blood:
2	chr6:38466684..38468343-chr6:38470238..38473899,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1079606	1.00[CHB][hapmap]
rs12660215	1.00[CHB][hapmap]
rs12664020	1.00[CHB][hapmap]
rs13193103	1.00[CHB][hapmap]
rs13197522	1.00[CHB][hapmap]
rs6907434	1.00[CHB][hapmap]

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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9380755	PGC	cis	cerebellum	SCAN
rs9380755	APOBEC2	cis	parietal	SCAN
rs9380755	RPL10A	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38452400-38496600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38454400-38486400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38460800-38473000	Enhancers	Brain Germinal Matrix	brain
5	chr6:38467200-38476400	Weak transcription	Ovary	ovary
6	chr6:38467400-38476400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:38468000-38472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:38468000-38476400	Weak transcription	Brain Substantia Nigra	brain
9	chr6:38468200-38472600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:38468600-38486400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:38469200-38475000	Enhancers	Fetal Muscle Leg	muscle
12	chr6:38469800-38472400	Enhancers	HSMMtube	muscle
13	chr6:38469800-38472800	Enhancers	HepG2	liver
14	chr6:38470200-38472400	Enhancers	Fetal Lung	lung
15	chr6:38470600-38472400	Enhancers	Brain Hippocampus Middle	brain
16	chr6:38470800-38472800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:38471000-38472200	Enhancers	Fetal Heart	heart
18	chr6:38471000-38472200	Enhancers	Fetal Stomach	stomach
19	chr6:38471000-38473200	Enhancers	Fetal Brain Male	brain
20	chr6:38471200-38472200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:38471200-38472400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:38471400-38476400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:38471600-38472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:38471600-38476000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:38471600-38476000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:38471600-38476400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:38471600-38476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:38471600-38484200	Weak transcription	Right Atrium	heart
29	chr6:38471600-38493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:38471800-38472200	Enhancers	Brain Anterior Caudate	brain
31	chr6:38471800-38472200	Enhancers	Fetal Brain Female	brain
32	chr6:38471800-38472400	Enhancers	Brain Angular Gyrus	brain
33	chr6:38471800-38472400	Enhancers	Rectal Smooth Muscle	rectum
34	chr6:38471800-38472600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:38471800-38476000	Weak transcription	HSMM	muscle
36	chr6:38471800-38476400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:38471800-38476400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:38472000-38476000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:38472000-38476400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:38472000-38476400	Weak transcription	Psoas Muscle	Psoas
41	chr6:38472000-38482400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:38472000-38493800	Weak transcription	Lung	lung

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