Variant report

Variant	rs2144664
Chromosome Location	chr1:185013349-185013350
allele	A/G
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	RCOR1	chr1:185013103-185013419	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185010943..185013509-chr1:185124566..185127368,2	MCF-7	breast:
2	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:
3	chr1:184941138..184943515-chr1:185012025..185014366,2	K562	blood:
4	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000121486	Chromatin interaction
ENSG00000116668	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10429841	0.91[AMR][1000 genomes]
rs10489582	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10494582	1.00[EUR][1000 genomes]
rs11804954	1.00[EUR][1000 genomes]
rs12024255	1.00[EUR][1000 genomes]
rs12026308	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12033761	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs12037199	1.00[EUR][1000 genomes]
rs12038977	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12041641	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12045533	0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12240005	1.00[EUR][1000 genomes]
rs16823734	0.92[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16823739	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823862	1.00[EUR][1000 genomes]
rs16823869	1.00[EUR][1000 genomes]
rs16823875	1.00[EUR][1000 genomes]
rs16823884	1.00[EUR][1000 genomes]
rs16823891	1.00[EUR][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs34769115	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41377350	1.00[EUR][1000 genomes]
rs57266144	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58031282	1.00[EUR][1000 genomes]
rs58685423	1.00[EUR][1000 genomes]
rs59611551	1.00[EUR][1000 genomes]
rs60064915	1.00[EUR][1000 genomes]
rs61146985	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61379702	1.00[EUR][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes]
rs6679946	1.00[EUR][1000 genomes]
rs6698620	1.00[EUR][1000 genomes]
rs7516303	1.00[EUR][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]
rs953701	1.00[EUR][1000 genomes]
rs953702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522073	chr1:184986725-185013349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv947340	chr1:185012848-185017415	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:185010600-185013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:185010600-185014000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:185010600-185014000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:185010600-185014000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:185012200-185014000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:185012400-185013800	Enhancers	HepG2	liver
11	chr1:185012800-185013800	Enhancers	K562	blood
12	chr1:185012800-185014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:185013000-185014000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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