Variant report

Variant	rs72717401
Chromosome Location	chr14:67825398-67825399
allele	A/C
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	chr14:67825240-67825415	ProgFib	skin:	n/a	n/a
2	CHD1	chr14:67824371-67828204	IMR90	lung:	n/a	chr14:67826150-67826157
3	MXI1	chr14:67825339-67827877	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr14:67824299-67825505	K562	blood:	n/a	n/a
5	HCFC1	chr14:67825382-67827870	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr14:67825306-67827795	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67822941..67825500-chr14:67825537..67827471,2	K562	blood:
2	chr14:67705865..67709673-chr14:67825015..67827419,4	MCF-7	breast:
3	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:

Variant related genes	Relation type
EIF2S1	TF binding region
ENSG00000134001	Chromatin interaction
ENSG00000072415	Chromatin interaction
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11539356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759756	0.97[ASN][1000 genomes]
rs41285536	0.90[EUR][1000 genomes]
rs45479091	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45561936	1.00[EUR][1000 genomes]
rs57259066	0.90[ASN][1000 genomes]
rs58979599	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60541082	0.90[ASN][1000 genomes]
rs72715389	0.90[EUR][1000 genomes]
rs72717319	0.90[EUR][1000 genomes]
rs72717347	1.00[EUR][1000 genomes]
rs72717359	1.00[EUR][1000 genomes]
rs72717362	1.00[EUR][1000 genomes]
rs72717366	1.00[EUR][1000 genomes]
rs72717367	1.00[EUR][1000 genomes]
rs72717368	0.90[ASN][1000 genomes]
rs72717369	0.90[ASN][1000 genomes]
rs72717370	1.00[EUR][1000 genomes]
rs72717371	0.81[ASN][1000 genomes]
rs72717372	1.00[EUR][1000 genomes]
rs72717375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717376	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717379	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717381	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717382	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717383	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717385	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717392	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719115	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719116	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719118	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719122	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719125	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719127	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719128	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719133	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:67815000-67825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:67816800-67825600	Weak transcription	Aorta	Aorta
4	chr14:67817400-67825400	Weak transcription	Fetal Kidney	kidney
5	chr14:67820600-67825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:67823200-67825600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:67823200-67825600	Enhancers	Fetal Heart	heart
8	chr14:67823400-67825400	Enhancers	Liver	Liver
9	chr14:67823400-67825600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:67823400-67825600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:67823400-67825800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:67823400-67828400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:67823600-67825400	Enhancers	Primary T cells from cord blood	blood
14	chr14:67823600-67825600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:67823800-67825400	Enhancers	Fetal Stomach	stomach
16	chr14:67823800-67825400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:67823800-67825600	Flanking Active TSS	HMEC	breast
18	chr14:67823800-67826000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:67823800-67828400	Active TSS	Right Ventricle	heart
20	chr14:67823800-67828600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:67824000-67825400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:67824000-67825600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:67824000-67825800	Flanking Active TSS	Osteobl	bone
24	chr14:67824000-67826000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:67824000-67827800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr14:67824000-67828000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:67824200-67825400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:67824200-67825400	Enhancers	Brain Substantia Nigra	brain
29	chr14:67824200-67825400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr14:67824200-67825600	Flanking Active TSS	NH-A	brain
31	chr14:67824200-67829600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:67824200-67829600	Active TSS	K562	blood
33	chr14:67824400-67825400	Enhancers	Fetal Brain Male	brain
34	chr14:67824400-67825400	Flanking Active TSS	NHDF-Ad	bronchial
35	chr14:67824400-67825600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:67824400-67825600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:67824400-67825600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr14:67824400-67825600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:67824400-67825600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:67824400-67825600	Enhancers	Colon Smooth Muscle	Colon
41	chr14:67824400-67825600	Flanking Active TSS	NHEK	skin
42	chr14:67824400-67825800	Enhancers	Small Intestine	intestine
43	chr14:67824400-67826000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:67824400-67826000	Enhancers	Spleen	Spleen
45	chr14:67824600-67825400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:67824600-67825400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:67824600-67825400	Enhancers	Fetal Lung	lung
48	chr14:67824600-67825400	Enhancers	Fetal Muscle Leg	muscle
49	chr14:67824600-67825600	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:67824600-67828000	Active TSS	NHLF	lung

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