Variant report

Variant	rs6419391
Chromosome Location	chr12:105671907-105671908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10778371	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4964130	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4964344	0.84[ASN][1000 genomes]
rs4964345	0.84[ASN][1000 genomes]
rs4964348	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4964350	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964353	0.91[CEU][hapmap]
rs6539197	0.83[ASN][1000 genomes]
rs6539201	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs66925241	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7134360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71441894	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7300300	0.84[ASN][1000 genomes]
rs7358662	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959327	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7970588	0.95[CEU][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970719	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978648	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1044450	chr12:105668451-105682822	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105659600-105672200	Weak transcription	Aorta	Aorta
2	chr12:105664600-105672200	Weak transcription	HSMM	muscle
3	chr12:105665000-105674200	Weak transcription	Osteobl	bone
4	chr12:105665600-105674800	Weak transcription	NHDF-Ad	bronchial
5	chr12:105668200-105674800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:105668600-105673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:105670400-105674600	Weak transcription	NHEK	skin
8	chr12:105670400-105674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:105670600-105672000	Weak transcription	NHLF	lung
10	chr12:105670600-105675000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:105670600-105675000	Weak transcription	HMEC	breast
12	chr12:105671200-105673200	Enhancers	Fetal Intestine Large	intestine
13	chr12:105671400-105673800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:105671600-105672400	Enhancers	Gastric	stomach
15	chr12:105671800-105672400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:105671800-105672600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:105671800-105672600	Enhancers	A549	lung
18	chr12:105671800-105672800	Enhancers	Fetal Intestine Small	intestine
19	chr12:105671800-105672800	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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