Variant report

Variant	rs71421388
Chromosome Location	chr14:68232740-68232741
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	RAD21	chr14:68232692-68233098	A549	lung:	n/a	chr14:68232931-68232943
2	RAD21	chr14:68232708-68233087	HepG2	liver:	n/a	chr14:68232931-68232943
3	CTCF	chr14:68232673-68233259	A549	lung:	n/a	n/a
4	RAD21	chr14:68232738-68233167	A549	lung:	n/a	chr14:68232931-68232943

No.	Distal block	Cell Line	Cell type
1	chr14:68231367..68233516-chr14:68234102..68236145,2	MCF-7	breast:
2	chr14:68231981..68233538-chr14:68234681..68237116,2	K562	blood:
3	chr14:68143497..68145467-chr14:68232189..68234111,2	MCF-7	breast:
4	chr14:68171220..68171774-chr14:68232579..68233209,2	MCF-7	breast:

Variant related genes	Relation type
ZFYVE26	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12878157	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12880908	0.84[EUR][1000 genomes]
rs17782871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34157082	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34186579	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34612763	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34666247	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35103502	0.93[EUR][1000 genomes]
rs67583198	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68206200-68251000	Weak transcription	K562	blood
2	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
4	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:68213800-68280600	Strong transcription	Liver	Liver
11	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
12	chr14:68214600-68232800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
17	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
18	chr14:68218600-68236400	Strong transcription	GM12878-XiMat	blood
19	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:68220200-68232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:68221600-68233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:68225400-68242600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:68226000-68248800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr14:68226200-68233000	Strong transcription	Adipose Nuclei	Adipose
31	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:68226400-68232800	Strong transcription	Brain Substantia Nigra	brain
35	chr14:68226400-68233000	Strong transcription	Primary B cells from cord blood	blood
36	chr14:68226400-68239200	Strong transcription	HUVEC	blood vessel
37	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
39	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
41	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
42	chr14:68226400-68257600	Strong transcription	Ovary	ovary
43	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
45	chr14:68226400-68258000	Strong transcription	Dnd41	blood
46	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
49	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links