Variant report

Variant	rs1949863
Chromosome Location	chr12:47543955-47543956
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47541282..47542895-chr12:47543869..47545971,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1608825	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097638	0.87[AMR][1000 genomes]
rs4548703	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727019	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61927693	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
2	chr12:47527000-47547800	Weak transcription	Ovary	ovary
3	chr12:47535800-47549600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47536000-47549600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:47536000-47550000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:47536000-47550200	Weak transcription	Adipose Nuclei	Adipose
8	chr12:47536000-47550200	Weak transcription	Aorta	Aorta
9	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:47536400-47549400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:47539400-47550000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:47540000-47544800	Weak transcription	Primary T cells from cord blood	blood
14	chr12:47540000-47545200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:47540000-47545200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:47540000-47549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47540000-47549200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:47541600-47558400	Weak transcription	NHEK	skin
19	chr12:47541800-47549200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:47542000-47545200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links