Variant report

Variant	rs12303819
Chromosome Location	chr12:123031736-123031737
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11058715	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11058774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11058777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11059272	1.00[AMR][1000 genomes]
rs12296637	0.92[AFR][1000 genomes]
rs12299649	1.00[AMR][1000 genomes]
rs12307488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309203	1.00[AMR][1000 genomes]
rs12314476	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318097	1.00[AMR][1000 genomes]
rs7956493	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899570	chr12:122985057-123089209	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1041677	chr12:122991478-123114125	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123012400-123035000	Weak transcription	Lung	lung
2	chr12:123012400-123036600	Weak transcription	Esophagus	oesophagus
3	chr12:123012400-123066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123012400-123114000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:123012400-123117000	Weak transcription	Pancreas	Pancrea
6	chr12:123012400-123121200	Weak transcription	Aorta	Aorta
7	chr12:123012600-123032000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:123012600-123036600	Weak transcription	Left Ventricle	heart
9	chr12:123012600-123042600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:123012600-123066200	Weak transcription	Psoas Muscle	Psoas
11	chr12:123012600-123095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:123012800-123032000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:123012800-123032000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:123012800-123036200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:123012800-123036800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:123012800-123037200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:123012800-123037600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:123012800-123042000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:123012800-123042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:123012800-123065800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:123012800-123097400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:123012800-123109200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:123013000-123031800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:123013000-123037000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:123013000-123076400	Weak transcription	Right Ventricle	heart
26	chr12:123013000-123109200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:123013200-123034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:123013200-123035200	Weak transcription	Liver	Liver
29	chr12:123013200-123036200	Weak transcription	Fetal Kidney	kidney
30	chr12:123013200-123036600	Weak transcription	Spleen	Spleen
31	chr12:123013200-123037600	Weak transcription	Small Intestine	intestine
32	chr12:123013200-123045800	Strong transcription	Fetal Thymus	thymus
33	chr12:123013200-123050000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:123013200-123103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:123013200-123112400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:123013400-123041800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:123013400-123080600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:123013400-123107400	Weak transcription	Fetal Heart	heart
39	chr12:123013400-123120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:123013800-123050000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:123014400-123084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:123014600-123085400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:123015400-123079800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:123015600-123115000	Strong transcription	Dnd41	blood
45	chr12:123017000-123038400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:123017000-123039200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:123017000-123045600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:123017200-123043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:123018200-123045000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:123018600-123049600	Strong transcription	H1 Cell Line	embryonic stem cell

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