Variant report

Variant	rs57125171
Chromosome Location	chr12:12380334-12380335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054762	0.83[ASN][1000 genomes]
rs11054765	0.83[ASN][1000 genomes]
rs12313063	0.83[ASN][1000 genomes]
rs12321230	0.83[ASN][1000 genomes]
rs73275029	0.83[ASN][1000 genomes]
rs73275034	0.83[ASN][1000 genomes]
rs73275042	0.83[ASN][1000 genomes]
rs73293337	0.83[ASN][1000 genomes]
rs74061124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061139	0.85[AFR][1000 genomes]
rs74061140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061143	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061144	0.85[AFR][1000 genomes]
rs74061150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs74061157	0.83[ASN][1000 genomes]
rs74061158	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
2	chr12:12368200-12381400	Weak transcription	Gastric	stomach
3	chr12:12368200-12384200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:12368600-12381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:12368600-12381400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:12370600-12380800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:12370600-12381000	Weak transcription	Left Ventricle	heart
9	chr12:12370800-12380800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:12370800-12392200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:12373000-12380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:12373000-12381200	Weak transcription	Lung	lung
13	chr12:12374600-12381000	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:12374600-12381400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:12374800-12380600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:12374800-12380600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:12374800-12380800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:12374800-12383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:12375000-12380800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:12377200-12381000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:12377200-12381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:12377400-12382400	Weak transcription	HSMM	muscle
23	chr12:12377800-12384200	Weak transcription	K562	blood
24	chr12:12377800-12407200	Weak transcription	NH-A	brain
25	chr12:12378800-12380800	ZNF genes & repeats	A549	lung
26	chr12:12379200-12396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:12379400-12382600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:12379400-12393600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:12379600-12380400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:12379600-12384200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:12379600-12393600	Weak transcription	NHLF	lung
32	chr12:12379800-12380600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:12379800-12382800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:12380000-12382400	Weak transcription	Fetal Kidney	kidney
35	chr12:12380000-12384200	Weak transcription	HepG2	liver
36	chr12:12380200-12381200	Weak transcription	Liver	Liver
37	chr12:12380200-12384800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:12380200-12388800	Weak transcription	Fetal Intestine Small	intestine

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