Variant report

Variant	rs12199447
Chromosome Location	chr6:143971551-143971552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11755709	0.91[ASN][1000 genomes]
rs12192270	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12193892	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12197980	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12200809	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12524982	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525281	0.86[ASN][1000 genomes]
rs12525974	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12527275	0.90[ASN][1000 genomes]
rs12530178	0.91[ASN][1000 genomes]
rs13191026	0.84[EUR][1000 genomes]
rs13192672	0.90[ASN][1000 genomes]
rs13193972	0.91[ASN][1000 genomes]
rs13195900	0.83[EUR][1000 genomes]
rs13199178	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214196	0.93[ASN][1000 genomes]
rs13219740	0.95[ASN][1000 genomes]
rs1338535	0.82[EUR][1000 genomes]
rs1539333	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17291151	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884172	0.88[ASN][1000 genomes]
rs2051009	0.82[ASN][1000 genomes]
rs2328506	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2328507	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34196129	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34775537	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286147	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35296418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4424099	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56392216	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62427376	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427377	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67470559	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6911970	0.82[EUR][1000 genomes]
rs6932482	0.88[ASN][1000 genomes]
rs7745970	0.83[EUR][1000 genomes]
rs7757372	0.80[EUR][1000 genomes]
rs9496699	0.82[EUR][1000 genomes]
rs9496738	0.84[ASN][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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1032369	chr6:143925374-144007513	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv604805	chr6:143930404-144005949	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv517253	chr6:143953672-143975157	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143956000-143973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:143959000-143978400	Weak transcription	Left Ventricle	heart
4	chr6:143959200-143973800	Weak transcription	Right Atrium	heart
5	chr6:143964000-143974000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:143968400-143973800	Weak transcription	HepG2	liver
7	chr6:143969200-143974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:143969200-143974600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr6:143969400-143973600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:143969800-143974400	Weak transcription	Placenta	Placenta
11	chr6:143970400-143973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:143970400-143973800	Weak transcription	Gastric	stomach
13	chr6:143970400-143974200	Weak transcription	Spleen	Spleen

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