Variant report

Variant	rs34785361
Chromosome Location	chr14:71372021-71372022
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	chr14:71371711-71373446	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr14:71372006-71372301	HepG2	liver:	n/a	chr14:71372113-71372124
3	CEBPB	chr14:71371912-71372310	IMR90	lung:	n/a	chr14:71372113-71372124

Variant related genes	Relation type
PCNX	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10137675	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148633	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10220379	0.92[ASN][1000 genomes]
rs10483835	0.84[ASN][1000 genomes]
rs11847244	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12432180	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12433409	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435253	0.86[ASN][1000 genomes]
rs12435675	0.90[EUR][1000 genomes]
rs12878013	0.90[EUR][1000 genomes]
rs12880918	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12881674	0.83[AMR][1000 genomes]
rs12888201	0.96[EUR][1000 genomes]
rs12891140	0.94[EUR][1000 genomes]
rs12891245	0.90[EUR][1000 genomes]
rs12891445	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892262	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12893528	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12894731	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12895177	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12896855	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1468469	0.83[ASN][1000 genomes]
rs17093729	0.83[ASN][1000 genomes]
rs17108694	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17108711	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108730	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108753	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108755	0.92[ASN][1000 genomes]
rs17108869	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108873	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17108897	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2051865	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2158537	0.83[AMR][1000 genomes]
rs2158998	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286312	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286314	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2526891	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34119685	0.84[ASN][1000 genomes]
rs34335220	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34740221	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34968850	0.90[ASN][1000 genomes]
rs34971726	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34998980	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35041597	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35092982	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35127721	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35168506	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35523654	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35725944	0.94[ASN][1000 genomes]
rs36089307	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4488390	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902872	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902873	0.84[ASN][1000 genomes]
rs4902874	0.84[ASN][1000 genomes]
rs4902877	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902878	0.94[EUR][1000 genomes]
rs61990447	0.83[ASN][1000 genomes]
rs71425225	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71425229	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71425386	0.92[ASN][1000 genomes]
rs7158548	0.94[EUR][1000 genomes]
rs7492431	0.86[ASN][1000 genomes]
rs8015773	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs917066	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71350600-71373000	Weak transcription	Spleen	Spleen
2	chr14:71361800-71373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:71364000-71373800	Weak transcription	Small Intestine	intestine
4	chr14:71364200-71373000	Weak transcription	NHEK	skin
5	chr14:71364200-71373600	Weak transcription	Lung	lung
6	chr14:71365400-71373400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:71368000-71372200	Weak transcription	Gastric	stomach
8	chr14:71368200-71373000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:71368600-71373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:71368600-71373200	Weak transcription	GM12878-XiMat	blood
11	chr14:71368600-71373200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:71368600-71373400	Weak transcription	NH-A	brain
13	chr14:71368600-71373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:71368800-71373000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:71368800-71373600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:71369200-71373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:71370400-71373000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:71370600-71373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:71370600-71373400	Enhancers	Fetal Muscle Leg	muscle
20	chr14:71370600-71373400	Enhancers	Fetal Stomach	stomach
21	chr14:71370800-71372200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:71370800-71372400	Enhancers	Left Ventricle	heart
23	chr14:71370800-71372800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:71370800-71373200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:71370800-71373400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:71370800-71373600	Enhancers	Fetal Lung	lung
27	chr14:71371000-71372400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:71371000-71373000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:71371000-71373000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:71371000-71373400	Enhancers	Ovary	ovary
31	chr14:71371000-71373600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:71371200-71372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr14:71371200-71372400	Enhancers	Fetal Kidney	kidney
34	chr14:71371200-71372800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:71371200-71373000	Enhancers	Rectal Smooth Muscle	rectum
36	chr14:71371200-71373200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:71371200-71373400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:71371200-71373600	Weak transcription	Colonic Mucosa	Colon
39	chr14:71371200-71373600	Enhancers	HSMM	muscle
40	chr14:71371200-71374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:71371400-71373000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:71371400-71373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:71371400-71373400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:71371600-71372200	Enhancers	Brain Hippocampus Middle	brain
45	chr14:71371600-71372200	Enhancers	Placenta	Placenta
46	chr14:71371600-71372200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:71371600-71372200	Enhancers	HUVEC	blood vessel
48	chr14:71371600-71372200	Enhancers	Osteobl	bone
49	chr14:71371600-71372400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:71371600-71372600	Flanking Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links