Variant report

Variant	rs10144194
Chromosome Location	chr14:24763612-24763613
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	POLR2A	chr14:24763602-24763671	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24760425..24763261-chr14:24763604..24766558,4	MCF-7	breast:
2	chr14:24710626..24712809-chr14:24761699..24764407,2	K562	blood:

Variant related genes	Relation type
DHRS1	TF binding region
ENSG00000092330	Chromatin interaction
ENSG00000157379	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10138762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053648	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1053649	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587807	0.99[ASN][1000 genomes]
rs12891891	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896458	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950505	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144492	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144493	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2180197	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281472	0.89[ASN][1000 genomes]
rs2295303	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2332232	0.83[ASN][1000 genomes]
rs3181382	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3742510	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742511	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4247000	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4247001	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4982895	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573678	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941506	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748000-24764800	Weak transcription	K562	blood
4	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
5	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
7	chr14:24749400-24763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:24750800-24765000	Weak transcription	NHDF-Ad	bronchial
9	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
10	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:24756400-24764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
14	chr14:24757200-24764800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:24757400-24765000	Weak transcription	Fetal Kidney	kidney
16	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
17	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
18	chr14:24758000-24765400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:24758400-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
22	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:24758600-24763800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:24758600-24765400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24758600-24765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:24758600-24765600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:24758600-24765800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:24758600-24765800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr14:24758600-24766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:24758600-24766000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr14:24758600-24766000	Strong transcription	Placenta	Placenta
32	chr14:24758800-24765600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:24758800-24766000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:24759400-24765400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:24759400-24766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:24759600-24765400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:24759800-24764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:24759800-24764800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:24759800-24765600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:24759800-24765800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:24759800-24765800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:24759800-24765800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:24759800-24766000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:24759800-24766600	Genic enhancers	Liver	Liver
45	chr14:24759800-24768000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:24760200-24764800	Weak transcription	NH-A	brain
47	chr14:24760200-24765800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr14:24760200-24767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:24760400-24764800	Weak transcription	HUVEC	blood vessel
50	chr14:24761200-24765000	Weak transcription	Hela-S3	cervix

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