Variant report

Variant	rs12227729
Chromosome Location	chr12:121693888-121693889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10774589	0.83[AMR][1000 genomes]
rs10849861	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10849862	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065508	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1132780	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12227751	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12304301	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1560568	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288692	0.83[AMR][1000 genomes]
rs2668250	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794202	0.83[AMR][1000 genomes]
rs3794203	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794204	0.83[AMR][1000 genomes]
rs3794208	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7975295	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7975297	0.83[AMR][1000 genomes]
rs7975910	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
4	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
8	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
10	chr12:121679400-121699000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:121679600-121713000	Strong transcription	Liver	Liver
15	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
16	chr12:121679800-121694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose
24	chr12:121681000-121712600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:121681200-121706400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:121681200-121708800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:121681200-121708800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:121681200-121713600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:121681400-121708800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:121681600-121694000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:121682200-121695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:121684600-121696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:121684800-121694600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr12:121684800-121694600	Strong transcription	Dnd41	blood
37	chr12:121684800-121694800	Strong transcription	A549	lung
38	chr12:121684800-121695000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:121684800-121699800	Strong transcription	Ovary	ovary
40	chr12:121684800-121704200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:121684800-121711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:121685000-121694000	Strong transcription	Gastric	stomach
43	chr12:121685000-121694600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr12:121685000-121695200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:121685000-121696000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:121685000-121699800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:121685000-121701600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:121685200-121694000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr12:121685200-121694800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:121685200-121694800	Strong transcription	Fetal Lung	lung

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