Variant report

Variant	rs12372237
Chromosome Location	chr12:12381094-12381095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11054736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054738	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054741	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611108	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181332	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817910	0.82[EUR][1000 genomes]
rs12820350	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823867	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201398	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35172905	0.81[EUR][1000 genomes]
rs56084505	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920856	0.92[ASN][1000 genomes]
rs71457140	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12368200-12381400	Weak transcription	Gastric	stomach
2	chr12:12368200-12384200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:12368600-12381400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:12370800-12392200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:12373000-12381200	Weak transcription	Lung	lung
7	chr12:12374600-12381400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:12374800-12383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:12377200-12381200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:12377400-12382400	Weak transcription	HSMM	muscle
11	chr12:12377800-12384200	Weak transcription	K562	blood
12	chr12:12377800-12407200	Weak transcription	NH-A	brain
13	chr12:12379200-12396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:12379400-12382600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:12379400-12393600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:12379600-12384200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:12379600-12393600	Weak transcription	NHLF	lung
18	chr12:12379800-12382800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:12380000-12382400	Weak transcription	Fetal Kidney	kidney
20	chr12:12380000-12384200	Weak transcription	HepG2	liver
21	chr12:12380200-12381200	Weak transcription	Liver	Liver
22	chr12:12380200-12384800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:12380200-12388800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:12380400-12382600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:12380600-12382000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:12380800-12381200	Weak transcription	A549	lung
27	chr12:12380800-12381800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:12380800-12381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:12380800-12382000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:12380800-12382000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:12380800-12382200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:12380800-12382600	Weak transcription	Brain Angular Gyrus	brain
33	chr12:12380800-12388400	Weak transcription	Fetal Stomach	stomach
34	chr12:12381000-12381400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:12381000-12381400	Enhancers	Pancreas	Pancrea
36	chr12:12381000-12381600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:12381000-12381600	Enhancers	Left Ventricle	heart
38	chr12:12381000-12381800	Enhancers	Aorta	Aorta
39	chr12:12381000-12382000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:12381000-12383000	Enhancers	Brain Hippocampus Middle	brain

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