Variant report

Variant	rs30629
Chromosome Location	chr5:14290805-14290806
allele	C/T
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	chr5:14290776-14291256	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
TRIO	TF binding region

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11133784	0.81[JPT][hapmap]
rs12522960	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs151899	0.81[JPT][hapmap]
rs154150	0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs164859	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs164860	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs164862	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs164863	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs165092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs165094	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs165095	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165096	0.86[ASN][1000 genomes]
rs2440982	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs30618	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs30621	0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[ASN][1000 genomes]
rs30625	0.82[ASN][1000 genomes]
rs30626	0.97[ASN][1000 genomes]
rs30627	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs30628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30630	0.96[ASN][1000 genomes]
rs30631	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs30632	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs30633	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs30635	0.80[EUR][1000 genomes]
rs354303	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs356026	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs356027	0.96[ASN][1000 genomes]
rs356028	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356029	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42253	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701604	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556928	0.81[JPT][hapmap]
rs56334634	0.84[ASN][1000 genomes]
rs58221971	0.87[ASN][1000 genomes]
rs6554849	0.87[ASN][1000 genomes]
rs6554850	0.84[ASN][1000 genomes]
rs6554851	0.84[ASN][1000 genomes]
rs7380307	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7700787	0.80[CHD][hapmap];0.82[JPT][hapmap]

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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
3	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
6	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
9	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:14278600-14296200	Strong transcription	NH-A	brain
11	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:14284800-14291000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:14285000-14292800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:14285000-14295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:14285200-14291200	Weak transcription	Thymus	Thymus
23	chr5:14285200-14293000	Weak transcription	Fetal Lung	lung
24	chr5:14285400-14291000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:14285400-14293000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:14285600-14292800	Strong transcription	NHLF	lung
27	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:14286000-14294000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:14286200-14291800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:14286200-14292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:14286400-14292000	Strong transcription	Fetal Intestine Small	intestine
34	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:14286600-14292800	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:14286800-14291600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:14286800-14293200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:14286800-14294000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:14286800-14295600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:14286800-14301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:14286800-14301800	Strong transcription	Liver	Liver
45	chr5:14287000-14291600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:14287000-14297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
48	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr5:14287200-14291000	Weak transcription	Spleen	Spleen
50	chr5:14287200-14292000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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