Variant report

Variant	rs2594950
Chromosome Location	chr2:177508622-177508623
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177508167..177510114-chr2:177515846..177517517,2	K562	blood:
2	chr2:177502565..177504869-chr2:177507966..177509530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163364	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10179687	0.85[ASN][1000 genomes]
rs10202251	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10210519	0.88[ASN][1000 genomes]
rs1054978	0.88[ASN][1000 genomes]
rs11695305	0.87[ASN][1000 genomes]
rs12467496	0.88[ASN][1000 genomes]
rs12616772	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12617412	0.87[ASN][1000 genomes]
rs12693096	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13019019	0.88[ASN][1000 genomes]
rs13395810	0.88[ASN][1000 genomes]
rs13428659	0.88[ASN][1000 genomes]
rs1448519	0.87[ASN][1000 genomes]
rs1448531	0.90[JPT][hapmap]
rs1545398	0.82[ASN][1000 genomes]
rs1562608	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1562611	0.87[ASN][1000 genomes]
rs16864180	0.88[ASN][1000 genomes]
rs17610485	0.87[ASN][1000 genomes]
rs1868340	0.88[ASN][1000 genomes]
rs1975589	0.87[ASN][1000 genomes]
rs2029041	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2362866	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2594947	0.90[ASN][1000 genomes]
rs2594948	0.86[ASN][1000 genomes]
rs2710024	0.88[ASN][1000 genomes]
rs35704455	0.88[ASN][1000 genomes]
rs4606966	0.85[ASN][1000 genomes]
rs4893911	0.88[ASN][1000 genomes]
rs4893912	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4893914	0.87[ASN][1000 genomes]
rs4894189	0.88[ASN][1000 genomes]
rs4894190	0.88[ASN][1000 genomes]
rs4894191	0.87[ASN][1000 genomes]
rs4894192	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718739	0.88[ASN][1000 genomes]
rs6740315	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6753693	0.88[ASN][1000 genomes]
rs6760357	0.88[ASN][1000 genomes]
rs72928334	0.84[ASN][1000 genomes]
rs72930221	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834464	chr2:177375743-177534410	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 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	chr2:177503000-177509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:177504200-177511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:177505400-177508800	Enhancers	HMEC	breast
4	chr2:177505800-177508800	Enhancers	Osteobl	bone
5	chr2:177508000-177508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:177508000-177508800	Enhancers	HUVEC	blood vessel
7	chr2:177508000-177509000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:177508200-177508800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr2:177508200-177508800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr2:177508200-177508800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:177508400-177508800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:177508400-177508800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:177508400-177508800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr2:177508400-177508800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:177508400-177508800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:177508400-177509400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr2:177508600-177508800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr2:177508600-177508800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr2:177508600-177508800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:177508600-177508800	Bivalent Enhancer	Aorta	Aorta
21	chr2:177508600-177508800	Bivalent Enhancer	Esophagus	oesophagus
22	chr2:177508600-177508800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:177508600-177508800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr2:177508600-177508800	Bivalent Enhancer	Left Ventricle	heart
25	chr2:177508600-177508800	Bivalent Enhancer	Right Atrium	heart
26	chr2:177508600-177518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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