Variant report

Variant	rs7975527
Chromosome Location	chr12:49674860-49674861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49620672..49622599-chr12:49674006..49675575,2	K562	blood:
2	chr12:49674067..49675633-chr12:49740443..49742458,2	MCF-7	breast:
3	chr12:49674656..49677388-chr12:49681241..49683027,2	K562	blood:
4	chr12:49448441..49451741-chr12:49671827..49675031,3	K562	blood:

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000178401	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11168963	0.98[ASN][1000 genomes]
rs6580706	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49668000-49676000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:49668000-49676000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:49668000-49678000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:49668400-49676200	Weak transcription	NHLF	lung
5	chr12:49668600-49676000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:49668600-49682400	Weak transcription	HMEC	breast
7	chr12:49668800-49675200	Weak transcription	Spleen	Spleen
8	chr12:49669000-49676200	Weak transcription	HSMM	muscle
9	chr12:49669000-49676400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:49671400-49676000	Weak transcription	HSMMtube	muscle
11	chr12:49671400-49676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:49671800-49677600	Weak transcription	Hela-S3	cervix
13	chr12:49672200-49676400	Weak transcription	NHEK	skin
14	chr12:49673400-49675200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:49673400-49676200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:49673800-49676200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:49674000-49675000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:49674000-49675200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:49674000-49675200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:49674000-49675200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:49674000-49675800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49674000-49675800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:49674000-49676000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:49674000-49676000	Weak transcription	K562	blood
25	chr12:49674000-49676200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:49674000-49676200	Weak transcription	A549	lung
27	chr12:49674000-49676600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:49674000-49677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:49674000-49677600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:49674200-49675200	Enhancers	Primary B cells from cord blood	blood
31	chr12:49674200-49675800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:49674200-49675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:49674200-49676000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:49674200-49677600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:49674600-49676000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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