Variant report

Variant	rs300947
Chromosome Location	chr4:144209789-144209790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144209479..144212330-chr4:144213134..144215865,2	K562	blood:
2	chr4:144203308..144204917-chr4:144209557..144211230,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10012713	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10028909	0.89[ASN][1000 genomes]
rs10033104	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10434185	0.85[CEU][hapmap]
rs11100779	0.85[CEU][hapmap]
rs11947952	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12643013	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13114280	0.84[EUR][1000 genomes]
rs13118846	0.95[ASN][1000 genomes]
rs13118943	0.84[EUR][1000 genomes]
rs13129434	0.89[ASN][1000 genomes]
rs13136521	0.86[CHB][hapmap]
rs13137362	0.89[ASN][1000 genomes]
rs13137565	0.84[CEU][hapmap]
rs1440412	0.84[AMR][1000 genomes]
rs1532981	0.95[ASN][1000 genomes]
rs2119269	0.84[EUR][1000 genomes]
rs300894	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300899	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300901	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300902	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300903	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300913	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300914	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300915	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300917	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs300921	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs300924	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs300925	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300927	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300929	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs300938	0.81[EUR][1000 genomes]
rs300940	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300941	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300946	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300949	0.90[EUR][1000 genomes]
rs300951	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300953	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805249	0.80[CEU][hapmap]
rs4285045	0.84[CEU][hapmap]
rs4413361	0.80[CEU][hapmap]
rs4690783	0.84[EUR][1000 genomes]
rs476417	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs592349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624170	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6537152	0.89[ASN][1000 genomes]
rs6537153	0.90[ASN][1000 genomes]
rs666542	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820340	0.85[CEU][hapmap]
rs6823434	0.89[ASN][1000 genomes]
rs6840603	0.93[ASN][1000 genomes]
rs7435424	0.84[CEU][hapmap]
rs7436840	0.83[EUR][1000 genomes]
rs763918	0.84[EUR][1000 genomes]
rs7655782	0.95[ASN][1000 genomes]
rs7690761	0.95[ASN][1000 genomes]
rs7692813	0.85[CEU][hapmap]
rs9996072	0.85[CEU][hapmap]
rs9998017	0.84[CEU][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv880177	chr4:144174773-144214082	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144206000-144210200	Enhancers	Fetal Stomach	stomach
2	chr4:144208400-144209800	Enhancers	Adipose Nuclei	Adipose
3	chr4:144208400-144209800	Enhancers	NHDF-Ad	bronchial
4	chr4:144208400-144214000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:144208800-144210200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:144208800-144210200	Enhancers	Psoas Muscle	Psoas
7	chr4:144208800-144212200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:144208800-144212200	Weak transcription	Fetal Lung	lung
9	chr4:144209000-144210000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:144209000-144210000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:144209000-144211600	Weak transcription	Ovary	ovary
12	chr4:144209000-144215000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:144209000-144215600	Weak transcription	Right Atrium	heart
14	chr4:144209000-144217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:144209400-144212200	Weak transcription	NHEK	skin
16	chr4:144209600-144209800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:144209600-144209800	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:144209600-144212200	Weak transcription	HMEC	breast
19	chr4:144209600-144212400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:144209600-144215000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:144209600-144215600	Weak transcription	NHLF	lung

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