Variant report

Variant	rs73191479
Chromosome Location	chr2:11694037-11694038
allele	C/T
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	POLR2A	chr2:11693148-11694987	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:11693869-11694059	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11693244..11695539-chr2:11699023..11701494,2	K562	blood:
2	chr2:11692018..11694220-chr2:11712327..11714726,2	K562	blood:

Variant related genes	Relation type
GREB1	TF binding region
ENSG00000251718	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4313952	0.93[ASN][1000 genomes]
rs6432210	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6432211	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432212	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432213	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432214	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432215	0.93[ASN][1000 genomes]
rs6432216	0.88[ASN][1000 genomes]
rs6432219	0.80[ASN][1000 genomes]
rs6749404	0.93[ASN][1000 genomes]
rs930310	0.93[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11683400-11697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:11687000-11694600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:11688600-11696400	Weak transcription	Pancreas	Pancrea
5	chr2:11690000-11711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:11691000-11694800	Genic enhancers	HepG2	liver
7	chr2:11691000-11697600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:11691400-11696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:11691400-11697600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:11691400-11699800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11693200-11695000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:11693600-11694200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:11693600-11694800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr2:11693800-11694200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:11693800-11694200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:11693800-11694200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11693800-11694200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr2:11693800-11694400	Enhancers	Adipose Nuclei	Adipose
19	chr2:11693800-11694400	Enhancers	Placenta	Placenta
20	chr2:11693800-11694600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:11693800-11694800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:11693800-11694800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:11693800-11694800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:11693800-11694800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:11693800-11694800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:11694000-11694200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:11694000-11694200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:11694000-11694200	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:11694000-11694400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr2:11694000-11694600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:11694000-11694800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:11694000-11694800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:11694000-11694800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:11694000-11694800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:11694000-11694800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:11694000-11694800	Transcr. at gene 5' and 3'	Ovary	ovary
37	chr2:11694000-11694800	Bivalent Enhancer	HSMMtube	muscle
38	chr2:11694000-11694800	Bivalent Enhancer	Osteobl	bone
39	chr2:11694000-11695000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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