Variant report

Variant	rs12155383
Chromosome Location	chr7:127806005-127806006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127804591..127807479-chr7:127875712..127877601,2	K562	blood:
2	chr7:127795407..127797844-chr7:127804124..127806542,3	MCF-7	breast:
3	chr7:127799897..127802659-chr7:127804825..127806354,2	K562	blood:
4	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10216248	0.94[ASN][1000 genomes]
rs10269842	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12155392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537331	1.00[CHB][hapmap]
rs17151707	1.00[CHB][hapmap]
rs17151739	1.00[CHB][hapmap]
rs4731407	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56340588	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62484033	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62484034	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62484035	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962635	1.00[CHB][hapmap]
rs896181	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	esv989073	chr7:127800713-127812327	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12155383	KLHDC10	cis	parietal	SCAN
rs12155383	RBM28	cis	cerebellum	SCAN
rs12155383	C14orf135	trans	cerebellum	SCAN
rs12155383	OPN1SW	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127803000-127806600	Enhancers	HMEC	breast
2	chr7:127803600-127806400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:127803800-127806200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr7:127803800-127806200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr7:127803800-127806400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr7:127804600-127806200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:127804600-127806400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:127804800-127806200	Weak transcription	Pancreas	Pancrea
9	chr7:127805000-127806400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr7:127805400-127806200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:127805400-127806400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr7:127805400-127806600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:127805400-127808800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr7:127805600-127806400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:127805600-127806600	Weak transcription	HSMM	muscle
16	chr7:127805600-127809200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:127805800-127806200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr7:127805800-127806200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr7:127805800-127806400	Weak transcription	HSMMtube	muscle
20	chr7:127805800-127806600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127805800-127806800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:127805800-127806800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr7:127805800-127807200	Weak transcription	Hela-S3	cervix
24	chr7:127806000-127806200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:127806000-127806200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:127806000-127806200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:127806000-127806400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:127806000-127806400	Bivalent Enhancer	Right Ventricle	heart
29	chr7:127806000-127806600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr7:127806000-127806600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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