Variant report

Variant	rs2074734
Chromosome Location	chr22:31535995-31535996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31534966..31537778-chr22:31554685..31557531,2	MCF-7	breast:
2	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
3	chr22:31522240..31525129-chr22:31533508..31536686,3	K562	blood:
4	chr22:31534039..31536501-chr22:31538813..31541013,2	K562	blood:
5	chr22:31476560..31478859-chr22:31533468..31537086,3	MCF-7	breast:
6	chr22:31521352..31522863-chr22:31533988..31536377,2	MCF-7	breast:
7	chr22:31522608..31525129-chr22:31534842..31536686,3	K562	blood:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000264141	Chromatin interaction
ENSG00000138942	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11089493	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17220418	0.82[CHB][hapmap]
rs17820958	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2057951	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2073856	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2073859	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2073860	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2073861	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2232173	0.97[EUR][1000 genomes]
rs2240424	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2267168	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2283882	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2413028	0.85[ASN][1000 genomes]
rs3761430	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827331	0.91[ASN][1000 genomes]
rs4364102	0.84[ASN][1000 genomes]
rs5749219	0.82[ASN][1000 genomes]
rs5749222	0.86[JPT][hapmap]
rs5749225	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs5749236	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5749240	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5749252	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs5749255	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs5753485	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753494	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs5753495	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs5753502	0.81[ASN][1000 genomes]
rs5753509	0.89[CHB][hapmap]
rs5753511	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753516	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753519	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753525	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs5753526	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753527	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753535	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs5753540	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs5753566	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs5997893	0.81[JPT][hapmap]
rs5997921	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs62237366	0.97[EUR][1000 genomes]
rs713619	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7286926	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7292620	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs8135417	0.86[JPT][hapmap]
rs874356	0.87[JPT][hapmap]
rs9619178	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9621212	1.00[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
2	chr22:31519800-31536000	Weak transcription	Gastric	stomach
3	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
4	chr22:31524600-31536000	Weak transcription	Right Ventricle	heart
5	chr22:31524800-31536400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:31528000-31536000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:31528200-31536400	Weak transcription	Pancreas	Pancrea
8	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
9	chr22:31534600-31536600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr22:31534600-31536800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31535000-31536200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr22:31535000-31536600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr22:31535200-31536400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31535200-31536400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:31535200-31536400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:31535200-31536600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr22:31535200-31536600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr22:31535400-31536400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr22:31535400-31536400	Active TSS	Lung	lung
20	chr22:31535400-31536600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr22:31535400-31536600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr22:31535400-31536600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31535400-31536600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31535600-31536000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:31535600-31536200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr22:31535600-31536600	Flanking Active TSS	Esophagus	oesophagus
27	chr22:31535600-31536800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31535800-31536000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr22:31535800-31536000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:31535800-31536200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:31535800-31536400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:31535800-31536400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31535800-31536600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:31535800-31536800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr22:31535800-31536800	Enhancers	Fetal Brain Female	brain
36	chr22:31535800-31537000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:31535800-31537000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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