Variant report

Variant	rs12231768
Chromosome Location	chr12:106891977-106891978
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106880850..106882517-chr12:106891803..106893326,2	K562	blood:
2	chr12:106886428..106888936-chr12:106890690..106892663,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10778483	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10778484	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861600	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10861607	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10861615	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10861616	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112983	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11113012	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11113014	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11113015	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11113016	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11113020	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11113023	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11113025	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13561	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17038484	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1882413	0.81[CHB][hapmap];0.81[AMR][1000 genomes]
rs2243506	0.85[CHB][hapmap];0.81[AMR][1000 genomes]
rs2244958	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2245062	0.81[CHB][hapmap];0.81[AMR][1000 genomes]
rs2246353	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2249162	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2249773	0.86[AMR][1000 genomes]
rs2250262	0.85[CHB][hapmap];0.86[AMR][1000 genomes]
rs2254755	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2288266	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288269	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2374609	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34619628	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3851635	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3902141	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137444	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7137638	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs741624	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12231768	POLR3B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:106854400-106904800	Weak transcription	HSMM	muscle
3	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
4	chr12:106855800-106895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:106855800-106896200	Weak transcription	Thymus	Thymus
6	chr12:106856000-106893000	Weak transcription	Right Ventricle	heart
7	chr12:106856800-106899400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:106858600-106895400	Weak transcription	Fetal Heart	heart
9	chr12:106865200-106892400	Weak transcription	Aorta	Aorta
10	chr12:106865400-106893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:106865400-106895200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:106865400-106897800	Weak transcription	Spleen	Spleen
13	chr12:106865600-106894200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:106872600-106897800	Weak transcription	Psoas Muscle	Psoas
15	chr12:106881800-106893000	Weak transcription	K562	blood
16	chr12:106884000-106893200	Weak transcription	NH-A	brain
17	chr12:106884800-106899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:106886200-106916400	Weak transcription	A549	lung
19	chr12:106887200-106893400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:106887600-106895400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:106887600-106898000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:106887600-106907800	Weak transcription	Small Intestine	intestine
23	chr12:106887800-106895200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:106887800-106900200	Weak transcription	Fetal Brain Male	brain
25	chr12:106888000-106899800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:106888200-106894200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:106888200-106895400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:106888200-106895600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:106888200-106897800	Weak transcription	Fetal Brain Female	brain
30	chr12:106888200-106898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:106888200-106899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:106888200-106906800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:106888800-106900400	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:106889000-106899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:106889200-106892800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:106889200-106897200	Weak transcription	Stomach Mucosa	stomach
37	chr12:106889200-106903200	Weak transcription	HMEC	breast
38	chr12:106889200-106904600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:106889200-106905400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:106889400-106892000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:106889400-106892000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:106889400-106892000	Strong transcription	Esophagus	oesophagus
43	chr12:106889400-106892200	Strong transcription	Left Ventricle	heart
44	chr12:106889400-106894800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:106889400-106896800	Strong transcription	Adipose Nuclei	Adipose
46	chr12:106889400-106899600	Strong transcription	Fetal Stomach	stomach
47	chr12:106889400-106904000	Strong transcription	Primary T cells from cord blood	blood
48	chr12:106889400-106904600	Strong transcription	Liver	Liver
49	chr12:106889600-106892000	Strong transcription	Brain Anterior Caudate	brain
50	chr12:106889600-106896600	Strong transcription	Ovary	ovary

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