Variant report

Variant	rs11112301
Chromosome Location	chr12:105406377-105406378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10507189	0.81[AMR][1000 genomes]
rs10861283	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10861284	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861285	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10861289	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10861290	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10861298	0.95[ASN][1000 genomes]
rs11112214	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11112216	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112219	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112222	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112226	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112236	0.81[AMR][1000 genomes]
rs11112239	0.82[ASN][1000 genomes]
rs11112240	0.82[ASN][1000 genomes]
rs11112244	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11112247	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11112255	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112267	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112272	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11112273	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112274	0.93[EUR][1000 genomes]
rs11112275	0.93[EUR][1000 genomes]
rs11112278	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112289	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112326	0.87[AMR][1000 genomes]
rs11519610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11519721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368856	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12371663	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12372030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372069	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12372636	0.84[AMR][1000 genomes]
rs16891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4405400	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56741182	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303811	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9943769	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:105385800-105408400	Weak transcription	Fetal Heart	heart
4	chr12:105387600-105412200	Weak transcription	HepG2	liver
5	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
6	chr12:105389400-105406800	Weak transcription	NH-A	brain
7	chr12:105389400-105411200	Weak transcription	Osteobl	bone
8	chr12:105391000-105407400	Weak transcription	NHDF-Ad	bronchial
9	chr12:105393200-105411400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:105393400-105421200	Weak transcription	NHLF	lung
12	chr12:105393600-105412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:105393800-105406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:105393800-105406400	Weak transcription	Spleen	Spleen
15	chr12:105393800-105406600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105393800-105407000	Weak transcription	Pancreas	Pancrea
17	chr12:105393800-105407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:105393800-105407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:105393800-105412000	Weak transcription	Lung	lung
20	chr12:105393800-105412200	Weak transcription	Placenta	Placenta
21	chr12:105393800-105412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:105393800-105414400	Weak transcription	Esophagus	oesophagus
23	chr12:105393800-105414600	Weak transcription	Colonic Mucosa	Colon
24	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:105394000-105406800	Weak transcription	Brain Angular Gyrus	brain
26	chr12:105394000-105414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:105394200-105406800	Weak transcription	Right Ventricle	heart
29	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:105394400-105406600	Weak transcription	Thymus	Thymus
32	chr12:105394400-105412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:105394600-105406400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
35	chr12:105395200-105414400	Weak transcription	Fetal Kidney	kidney
36	chr12:105397400-105407000	Weak transcription	HUVEC	blood vessel
37	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
38	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:105397800-105406400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:105397800-105408800	Weak transcription	K562	blood
41	chr12:105397800-105412400	Weak transcription	Psoas Muscle	Psoas
42	chr12:105398000-105406600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:105398000-105407000	Weak transcription	HSMMtube	muscle
44	chr12:105398000-105412000	Weak transcription	NHEK	skin
45	chr12:105399000-105414200	Weak transcription	Small Intestine	intestine
46	chr12:105399200-105414200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:105399400-105406400	Weak transcription	Dnd41	blood
48	chr12:105399400-105412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:105399600-105406400	Weak transcription	Fetal Stomach	stomach
50	chr12:105399600-105407000	Weak transcription	Adipose Nuclei	Adipose

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