Variant report

Variant	rs11730543
Chromosome Location	chr4:166269340-166269341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166262631..166267437-chr4:166267990..166271315,4	K562	blood:
2	chr4:166247031..166249903-chr4:166268462..166270625,2	K562	blood:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11726415	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11729568	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944540	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046216	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488534	1.00[ASN][1000 genomes]
rs17488569	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488814	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17488835	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17488877	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36230153	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4353858	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387271	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6829944	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830103	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701623	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701624	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701625	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72701638	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701640	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701655	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72701660	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72701663	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	esv1847399	chr4:166259587-166284836	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv2763404	chr4:166265940-166275340	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166252200-166269400	Weak transcription	Gastric	stomach
2	chr4:166253400-166272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:166254000-166269400	Weak transcription	Fetal Heart	heart
4	chr4:166261400-166272600	Weak transcription	HSMMtube	muscle
5	chr4:166261600-166272800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:166263200-166280400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:166263400-166272800	Weak transcription	NH-A	brain
8	chr4:166264000-166271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:166264000-166274600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:166264200-166274800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:166264400-166270200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:166265200-166269400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:166265200-166269600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:166265200-166269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:166265200-166270000	Weak transcription	HMEC	breast
16	chr4:166265200-166271000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:166265200-166272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:166265400-166269400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:166265400-166269800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:166265400-166270000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:166267000-166272800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:166267800-166269400	Weak transcription	HepG2	liver
23	chr4:166269000-166269800	Enhancers	Liver	Liver
24	chr4:166269000-166270200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:166269200-166270400	Enhancers	Stomach Mucosa	stomach
26	chr4:166269200-166270400	Enhancers	K562	blood

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