Variant report

Variant	rs11048367
Chromosome Location	chr12:26134871-26134872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10431215	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459081	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10771249	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771251	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10771252	0.82[ASN][1000 genomes]
rs10771253	0.82[ASN][1000 genomes]
rs10771255	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10842641	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842642	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842645	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842646	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10842647	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842648	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842650	0.82[ASN][1000 genomes]
rs10842651	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11048363	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048364	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048365	0.82[ASN][1000 genomes]
rs11048368	0.82[ASN][1000 genomes]
rs11048370	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11048374	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12227480	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12811312	0.82[ASN][1000 genomes]
rs1874349	0.82[ASN][1000 genomes]
rs1874351	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1994995	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2643933	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61247260	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6487522	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315752	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7956992	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963754	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964657	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969486	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971740	0.82[ASN][1000 genomes]
rs7971906	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977148	0.82[ASN][1000 genomes]
rs7979763	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
4	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
5	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
6	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:26131000-26145400	Weak transcription	Lung	lung
10	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:26131000-26146200	Weak transcription	HSMM	muscle
12	chr12:26131200-26137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:26132400-26135400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:26132400-26137800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:26132800-26137200	Weak transcription	Psoas Muscle	Psoas
18	chr12:26132800-26137800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:26132800-26137800	Weak transcription	Fetal Lung	lung
20	chr12:26132800-26138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:26132800-26138000	Weak transcription	Brain Substantia Nigra	brain
22	chr12:26132800-26138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:26133000-26135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:26133000-26136600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26133000-26137400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:26133000-26137600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:26133000-26137600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:26133000-26137800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:26133000-26137800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:26133000-26137800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:26133000-26138000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:26133000-26139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:26133000-26144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:26133000-26144600	Weak transcription	HMEC	breast
35	chr12:26133000-26144600	Weak transcription	NHEK	skin
36	chr12:26133000-26145200	Weak transcription	NH-A	brain
37	chr12:26133000-26145200	Weak transcription	Osteobl	bone
38	chr12:26133200-26135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:26133200-26138000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:26133200-26138200	Weak transcription	Brain Anterior Caudate	brain
41	chr12:26133600-26138000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:26133800-26135000	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:26134000-26135000	Enhancers	Fetal Intestine Small	intestine
44	chr12:26134000-26136000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:26134200-26137200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:26134200-26138200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:26134400-26135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:26134400-26137200	Weak transcription	Left Ventricle	heart
50	chr12:26134400-26138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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