Variant report

Variant	rs17112133
Chromosome Location	chr14:42078644-42078645
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	POLR2A	chr14:42078015-42078719	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr14:42078393-42079528	H1-hESC	embryonic stem cell:	n/a	chr14:42079002-42079013 chr14:42078763-42078772
3	REST	chr14:42078462-42079916	H1-neurons	neurons:	n/a	chr14:42079410-42079423 chr14:42079263-42079281

Variant related genes	Relation type
ENSG00000258636	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1111177	0.85[ASN][1000 genomes]
rs1111179	0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11157242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1117723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[ASN][1000 genomes]
rs12100476	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12100840	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12100891	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12431444	0.87[ASN][1000 genomes]
rs12587520	0.85[ASN][1000 genomes]
rs12589112	0.94[ASN][1000 genomes]
rs12589180	0.88[ASN][1000 genomes]
rs12590527	0.88[ASN][1000 genomes]
rs1609735	0.87[ASN][1000 genomes]
rs17092256	0.85[ASN][1000 genomes]
rs17112137	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17112148	0.89[ASN][1000 genomes]
rs1950834	0.89[ASN][1000 genomes]
rs1950835	0.88[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1950836	0.82[ASN][1000 genomes]
rs1950838	0.85[ASN][1000 genomes]
rs1956446	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1956447	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1998126	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2077067	0.85[ASN][1000 genomes]
rs2166751	0.83[ASN][1000 genomes]
rs28755010	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2899928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4479135	0.81[ASN][1000 genomes]
rs58845274	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59063354	0.89[ASN][1000 genomes]
rs59937937	0.88[ASN][1000 genomes]
rs61990289	0.89[ASN][1000 genomes]
rs6572097	0.88[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap]
rs6572099	0.85[ASN][1000 genomes]
rs7148091	0.86[ASN][1000 genomes]
rs8007172	0.85[ASN][1000 genomes]
rs8013655	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:42073000-42079600	Active TSS	Right Atrium	heart
3	chr14:42073600-42079800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:42074800-42079800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:42075200-42079200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr14:42076000-42079800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr14:42076200-42079600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr14:42076200-42079800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:42076800-42078800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:42077000-42079000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr14:42077000-42079600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
12	chr14:42077200-42079600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr14:42077200-42079800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:42077200-42079800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:42077400-42078800	Bivalent/Poised TSS	Fetal Brain Male	brain
16	chr14:42077400-42079600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr14:42077400-42079800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
18	chr14:42077600-42079600	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:42077600-42081000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:42077800-42078800	Active TSS	Fetal Muscle Trunk	muscle
21	chr14:42077800-42079000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr14:42077800-42079000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:42077800-42079200	Weak transcription	Pancreas	Pancrea
24	chr14:42077800-42079200	Active TSS	Psoas Muscle	Psoas
25	chr14:42077800-42079400	Bivalent/Poised TSS	Right Ventricle	heart
26	chr14:42077800-42079600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr14:42078000-42078800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr14:42078200-42079200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:42078200-42079200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr14:42078200-42079800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr14:42078400-42079200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:42078400-42079400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr14:42078400-42079400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:42078400-42079400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:42078400-42079600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:42078400-42079600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:42078400-42079600	Active TSS	Brain Anterior Caudate	brain
38	chr14:42078400-42079600	Active TSS	Fetal Kidney	kidney
39	chr14:42078400-42079600	Active TSS	Ovary	ovary
40	chr14:42078400-42079800	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr14:42078400-42079800	Bivalent/Poised TSS	NHLF	lung
42	chr14:42078400-42080200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:42078400-42080600	Active TSS	Brain Angular Gyrus	brain
44	chr14:42078600-42078800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
45	chr14:42078600-42079000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:42078600-42079200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:42078600-42079400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:42078600-42079400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr14:42078600-42079400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr14:42078600-42079400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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