Variant report

Variant	rs12422974
Chromosome Location	chr12:48038342-48038343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12423045	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12423789	0.82[AMR][1000 genomes]
rs12426347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426387	0.82[AMR][1000 genomes]
rs12426849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2020962	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35044089	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57848393	0.84[EUR][1000 genomes]
rs67201012	0.84[EUR][1000 genomes]
rs67408202	0.84[EUR][1000 genomes]
rs7303895	0.96[EUR][1000 genomes]
rs7304743	0.96[EUR][1000 genomes]
rs73102120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102166	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102168	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102171	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102188	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102195	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102201	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104103	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104104	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104111	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104115	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104116	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73104138	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104143	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104144	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104148	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104152	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104155	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104161	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104163	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73104177	0.84[EUR][1000 genomes]
rs73104184	0.84[EUR][1000 genomes]
rs73104188	0.84[EUR][1000 genomes]
rs73111210	0.88[AMR][1000 genomes]
rs73111212	0.88[AMR][1000 genomes]
rs73111216	0.88[AMR][1000 genomes]
rs73111217	0.88[AMR][1000 genomes]
rs73111220	0.82[AMR][1000 genomes]
rs73111226	0.82[AMR][1000 genomes]
rs73111229	0.82[AMR][1000 genomes]
rs73111231	0.82[AMR][1000 genomes]
rs73111258	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73113117	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73113139	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73113143	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73113159	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73113161	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7954764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
2	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
3	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:48016000-48044400	Weak transcription	NH-A	brain
6	chr12:48023600-48044800	Weak transcription	Gastric	stomach
7	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
8	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:48030800-48042000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
12	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:48031400-48042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48031400-48042000	Weak transcription	K562	blood
16	chr12:48031400-48044600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
18	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:48031600-48044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:48031600-48044600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:48035000-48044600	Weak transcription	HSMM	muscle
23	chr12:48036000-48038800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:48036400-48044600	Weak transcription	NHDF-Ad	bronchial
25	chr12:48036600-48055400	Weak transcription	Ovary	ovary
26	chr12:48036800-48039200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:48037400-48039000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:48037400-48042200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:48037800-48040000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:48038000-48038400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:48038000-48038800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr12:48038000-48039400	Weak transcription	Primary B cells from cord blood	blood
33	chr12:48038000-48042000	Weak transcription	Placenta	Placenta
34	chr12:48038000-48042200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:48038200-48038800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr12:48038200-48039800	Weak transcription	A549	lung
37	chr12:48038200-48044200	Weak transcription	Osteobl	bone
38	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine

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