Variant report

Variant	rs12231368
Chromosome Location	chr12:4458745-4458746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11063081	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11063105	0.82[AFR][1000 genomes]
rs12230757	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12819556	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12819956	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133330	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv275025	chr12:4441705-4462505	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12231368	C12orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4431200-4461200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4431200-4465800	Weak transcription	Psoas Muscle	Psoas
3	chr12:4431600-4460400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:4431600-4462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:4431600-4463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:4431600-4465000	Weak transcription	Pancreas	Pancrea
7	chr12:4432200-4463400	Weak transcription	Small Intestine	intestine
8	chr12:4432200-4463600	Weak transcription	Colonic Mucosa	Colon
9	chr12:4433200-4463200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:4433800-4460400	Weak transcription	Gastric	stomach
11	chr12:4434000-4461600	Weak transcription	NHLF	lung
12	chr12:4434000-4465000	Weak transcription	Esophagus	oesophagus
13	chr12:4441000-4465600	Weak transcription	Fetal Intestine Large	intestine
14	chr12:4441400-4459400	Weak transcription	HepG2	liver
15	chr12:4441800-4463600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:4443400-4464800	Weak transcription	Fetal Brain Male	brain
17	chr12:4443600-4463400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:4445200-4461000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:4445800-4460600	Weak transcription	Hela-S3	cervix
20	chr12:4446800-4461000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:4447400-4464800	Weak transcription	Right Ventricle	heart
22	chr12:4447600-4459000	Weak transcription	Dnd41	blood
23	chr12:4447600-4460400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:4447600-4460400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:4447600-4461000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:4447600-4461200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:4447600-4461400	Weak transcription	Fetal Thymus	thymus
28	chr12:4447600-4461400	Weak transcription	HSMMtube	muscle
29	chr12:4447600-4462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:4447600-4464400	Weak transcription	Spleen	Spleen
31	chr12:4447600-4464800	Weak transcription	Brain Germinal Matrix	brain
32	chr12:4447800-4459400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:4447800-4460400	Weak transcription	Lung	lung
34	chr12:4447800-4464200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:4448000-4459200	Weak transcription	NH-A	brain
36	chr12:4448000-4460400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:4448000-4460400	Weak transcription	Aorta	Aorta
38	chr12:4448000-4460400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:4448000-4461800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:4448000-4462600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:4448000-4464800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:4448200-4460400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:4448200-4460400	Weak transcription	Liver	Liver
44	chr12:4448200-4460800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:4448400-4459000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:4448400-4460200	Weak transcription	NHEK	skin
47	chr12:4448600-4462600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:4448800-4460000	Weak transcription	Osteobl	bone
49	chr12:4448800-4460400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:4449000-4459000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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