Variant report

Variant	rs2434605
Chromosome Location	chr5:14292625-14292626
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	chr5:14292581-14293638	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs13175673	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13184211	1.00[CHB][hapmap]
rs13184670	1.00[CHB][hapmap]
rs164861	1.00[ASN][1000 genomes]
rs17299045	1.00[CHB][hapmap]
rs17302408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs187125	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs245577	1.00[ASN][1000 genomes]
rs26057	1.00[CHB][hapmap]
rs26058	1.00[CHB][hapmap]
rs26059	1.00[CHB][hapmap]
rs26061	1.00[CHB][hapmap]
rs2607077	1.00[ASN][1000 genomes]
rs2607078	1.00[ASN][1000 genomes]
rs2697663	1.00[ASN][1000 genomes]
rs27665	1.00[CHB][hapmap]
rs28010	1.00[CHB][hapmap]
rs30616	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs30617	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs30619	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs30620	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs32339	1.00[CHB][hapmap]
rs32341	1.00[CHB][hapmap]
rs32390	1.00[CHB][hapmap]
rs32394	1.00[CHB][hapmap]
rs354285	1.00[CHB][hapmap]
rs354298	1.00[CHB][hapmap]
rs354300	1.00[CHB][hapmap]
rs354305	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs354308	1.00[ASN][1000 genomes]
rs354312	1.00[CHB][hapmap]
rs3849082	1.00[CHB][hapmap]
rs39856	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs42485	1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs706271	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs773701	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs773702	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs773703	1.00[CHB][hapmap]
rs773763	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs799025	1.00[ASN][1000 genomes]
rs897724	1.00[ASN][1000 genomes]
rs897726	1.00[ASN][1000 genomes]
rs923616	1.00[CHB][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	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
5	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
7	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:14278600-14296200	Strong transcription	NH-A	brain
9	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:14285000-14292800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:14285000-14295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14285200-14293000	Weak transcription	Fetal Lung	lung
19	chr5:14285400-14293000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:14285600-14292800	Strong transcription	NHLF	lung
21	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:14286000-14294000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:14286600-14292800	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:14286800-14293200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:14286800-14294000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:14286800-14295600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr5:14286800-14301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:14286800-14301800	Strong transcription	Liver	Liver
35	chr5:14287000-14297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
37	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr5:14287400-14296200	Strong transcription	Osteobl	bone
39	chr5:14287600-14292800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:14287600-14293000	Strong transcription	HSMM	muscle
41	chr5:14287600-14293200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:14287600-14293200	Weak transcription	Pancreas	Pancrea
43	chr5:14287800-14293200	Strong transcription	Adipose Nuclei	Adipose
44	chr5:14287800-14298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:14287800-14298600	Weak transcription	Primary T cells from cord blood	blood
46	chr5:14288000-14295400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr5:14288600-14295200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:14288600-14301600	Strong transcription	GM12878-XiMat	blood
50	chr5:14288800-14300600	Strong transcription	Rectal Mucosa Donor 29	rectum

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