Variant report

Variant	rs4904155
Chromosome Location	chr14:37127044-37127045
allele	C/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	CTCF	chr14:37126920-37127070	SK-N-SH_RA	brain:	n/a	chr14:37126934-37126941
2	CTBP2	chr14:37126630-37129338	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr14:37127015-37127273	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr14:37126938-37127202	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr14:37126900-37127050	AG09319	gingival:	n/a	chr14:37126934-37126941
6	CTCF	chr14:37127040-37127190	SK-N-SH_RA	brain:	n/a	chr14:37127138-37127147
7	SUZ12	chr14:37123241-37129363	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr14:37125132-37130861	NT2-D1	testis:	n/a	n/a
9	YY1	chr14:37126978-37127298	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr14:37126785-37127246	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-6	chr14:37126773-37127105	NONHSAT036445

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2073240	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073241	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073243	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073244	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073245	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073246	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073247	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295218	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295220	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4904210	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61994900	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148372	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156392	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs752132	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011628	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011668	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:85 , 50 per page) page: 1 2

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	chr14:37124400-37127200	Bivalent Enhancer	Placenta	Placenta
6	chr14:37125000-37128000	Bivalent Enhancer	Liver	Liver
7	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
8	chr14:37125200-37127200	Active TSS	Right Atrium	heart
9	chr14:37125200-37128000	Bivalent Enhancer	Fetal Brain Male	brain
10	chr14:37125400-37127400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr14:37125400-37127600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr14:37125600-37127200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
13	chr14:37126000-37127200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr14:37126000-37127400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:37126000-37127400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:37126200-37127200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:37126200-37127200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:37126200-37127600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr14:37126200-37129400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
21	chr14:37126400-37127200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:37126400-37127200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:37126400-37127200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr14:37126400-37127200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr14:37126400-37127200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr14:37126400-37127200	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr14:37126400-37127400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:37126400-37127600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr14:37126400-37128800	Bivalent Enhancer	Fetal Lung	lung
30	chr14:37126600-37127200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr14:37126600-37127200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:37126600-37127200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr14:37126600-37127200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr14:37126600-37127200	Bivalent Enhancer	HUVEC	blood vessel
35	chr14:37126600-37127200	Bivalent Enhancer	NH-A	brain
36	chr14:37126600-37127200	Bivalent/Poised TSS	NHEK	skin
37	chr14:37126600-37127400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:37126600-37127400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:37126600-37127400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr14:37126600-37127400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:37126600-37127400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
42	chr14:37126600-37127400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr14:37126600-37127400	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr14:37126600-37128200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr14:37126800-37127200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr14:37126800-37127200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr14:37126800-37127200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:37126800-37127200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:37126800-37127200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:37126800-37127200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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