Variant report

Variant	rs4346144
Chromosome Location	chr14:78219144-78219145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78215856..78220355-chr14:78223281..78227527,5	K562	blood:
2	chr14:78217096..78219959-chr14:78223868..78226613,3	K562	blood:
3	chr14:78218266..78220358-chr14:78265479..78267981,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100603	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10141302	0.83[CEU][hapmap]
rs10151802	0.83[CEU][hapmap]
rs11621071	0.83[CEU][hapmap]
rs11621461	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622143	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11623841	0.81[CEU][hapmap]
rs11624213	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11625663	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11626695	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11628506	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11628565	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs176894	0.91[CEU][hapmap]
rs17753195	0.81[CEU][hapmap]
rs1972615	0.81[CEU][hapmap]
rs2160903	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2364603	0.91[CEU][hapmap]
rs34849143	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7143656	0.81[CEU][hapmap]
rs7359160	0.83[CEU][hapmap]
rs8019042	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9323655	0.83[CEU][hapmap]
rs9323656	0.81[CEU][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:78177200-78223800	Strong transcription	Dnd41	blood
12	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
15	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
17	chr14:78205400-78219400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:78205600-78219200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:78206800-78221400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:78207000-78219400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:78207000-78222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:78207200-78222000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:78207400-78223000	Strong transcription	Fetal Thymus	thymus
24	chr14:78207600-78222400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:78207600-78224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
27	chr14:78208400-78221400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:78208800-78221800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:78209600-78221200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:78209600-78221400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:78209800-78223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:78210000-78223800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:78210600-78222800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:78211200-78221800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:78211400-78223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:78211400-78223800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:78212000-78221600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr14:78212800-78222800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:78212800-78225600	Weak transcription	Stomach Mucosa	stomach
40	chr14:78213000-78219200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:78213600-78221400	Strong transcription	Adipose Nuclei	Adipose
42	chr14:78214000-78221800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:78214000-78223000	Strong transcription	Fetal Lung	lung
44	chr14:78214200-78220000	Strong transcription	Brain Anterior Caudate	brain
45	chr14:78214200-78221400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:78214200-78221600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:78214200-78221600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:78214200-78222000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr14:78214200-78222800	Strong transcription	Primary T cells from cord blood	blood
50	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links