Variant report

Variant	rs12885612
Chromosome Location	chr14:37127410-37127411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr14:37126630-37129338	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr14:37123241-37129363	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr14:37125132-37130861	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

Variant related genes	Relation type
PAX9	TF binding region
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1018464	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848377	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12878491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12881240	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12881439	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12883049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895715	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34808452	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34914085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67155512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149262	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72679711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:37123600-37128200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
4	chr14:37123800-37128000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr14:37125000-37128000	Bivalent Enhancer	Liver	Liver
6	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
7	chr14:37125200-37128000	Bivalent Enhancer	Fetal Brain Male	brain
8	chr14:37125400-37127600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
9	chr14:37126200-37127600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
10	chr14:37126200-37129400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
12	chr14:37126400-37127600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr14:37126400-37128800	Bivalent Enhancer	Fetal Lung	lung
14	chr14:37126600-37128200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr14:37126800-37127600	Flanking Active TSS	Right Ventricle	heart
16	chr14:37126800-37127800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr14:37126800-37127800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr14:37126800-37127800	Bivalent Enhancer	Spleen	Spleen
19	chr14:37126800-37128000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:37127000-37127600	Bivalent Enhancer	Colon Smooth Muscle	Colon
21	chr14:37127000-37127800	Bivalent Enhancer	Brain Angular Gyrus	brain
22	chr14:37127000-37128400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr14:37127000-37128600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:37127000-37129000	Enhancers	Gastric	stomach
25	chr14:37127000-37129400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr14:37127200-37127600	Bivalent Enhancer	HepG2	liver
27	chr14:37127200-37127800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr14:37127200-37127800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr14:37127200-37128000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr14:37127200-37128000	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr14:37127200-37128000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr14:37127200-37128000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr14:37127200-37128200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr14:37127200-37128600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:37127200-37128600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:37127200-37128800	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr14:37127400-37127600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:37127400-37127600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr14:37127400-37127800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr14:37127400-37127800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:37127400-37128000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:37127400-37128000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:37127400-37128000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:37127400-37128000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:37127400-37128000	Bivalent Enhancer	Lung	lung
46	chr14:37127400-37128200	Bivalent Enhancer	Fetal Heart	heart
47	chr14:37127400-37128200	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr14:37127400-37128600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr14:37127400-37128600	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr14:37127400-37128800	Enhancers	Pancreas	Pancrea

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