Variant report

Variant	rs74061143
Chromosome Location	chr12:12389584-12389585
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	chr12:12389441..12390958-chr12:12394768..12397080,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11054762	1.00[ASN][1000 genomes]
rs11054765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321230	1.00[ASN][1000 genomes]
rs57125171	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58389257	1.00[EUR][1000 genomes]
rs73275029	1.00[ASN][1000 genomes]
rs73275034	1.00[ASN][1000 genomes]
rs73275042	1.00[ASN][1000 genomes]
rs73293337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061124	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061127	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061155	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061157	1.00[ASN][1000 genomes]
rs74061158	1.00[EUR][1000 genomes];1.00[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:12370800-12392200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:12377800-12407200	Weak transcription	NH-A	brain
4	chr12:12379200-12396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12379400-12393600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:12379600-12393600	Weak transcription	NHLF	lung
7	chr12:12381400-12393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12381600-12390000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:12381800-12391800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:12381800-12393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:12382000-12392000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:12382000-12393800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:12383000-12393600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:12383000-12393800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:12383000-12394200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:12383200-12389800	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:12384800-12389600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:12384800-12389800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:12384800-12390000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:12384800-12392000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:12384800-12417200	Weak transcription	K562	blood
22	chr12:12385000-12390000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:12385000-12390000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:12385000-12392000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:12385000-12393600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:12385000-12393600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:12385000-12393600	Weak transcription	Ovary	ovary
28	chr12:12385000-12394600	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:12385000-12396600	Weak transcription	Left Ventricle	heart
30	chr12:12385000-12396800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:12385000-12404000	Weak transcription	Lung	lung
32	chr12:12385000-12417800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:12385200-12409200	Weak transcription	Pancreas	Pancrea
34	chr12:12386000-12390000	Weak transcription	Brain Anterior Caudate	brain
35	chr12:12386600-12396800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:12387000-12389800	Weak transcription	HepG2	liver
37	chr12:12387400-12389800	Weak transcription	Liver	Liver
38	chr12:12388400-12389600	ZNF genes & repeats	Fetal Stomach	stomach
39	chr12:12388800-12390200	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr12:12388800-12390400	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr12:12389200-12393000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:12389400-12389600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:12389400-12389600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:12389400-12389600	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:12389400-12389600	Enhancers	A549	lung
46	chr12:12389400-12390000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12389400-12390000	Enhancers	Psoas Muscle	Psoas
48	chr12:12389400-12390800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links