Variant report

Variant	rs67408612
Chromosome Location	chr14:78193461-78193462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78190819..78193768-chr14:78194288..78197253,2	K562	blood:
2	chr14:78188831..78191119-chr14:78192620..78194304,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1076496	0.95[ASN][1000 genomes]
rs12432030	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12587155	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12587584	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587825	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590320	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12880300	0.83[ASN][1000 genomes]
rs12880840	0.83[ASN][1000 genomes]
rs12881898	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12886631	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12891621	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892669	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2267755	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2267757	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270443	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299931	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35261431	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35657726	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4540996	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899676	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4903624	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4903644	0.83[ASN][1000 genomes]
rs7145979	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72688831	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8003389	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003715	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8022886	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	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
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
6	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
14	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
22	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:78177000-78194800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:78177000-78204600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:78177000-78204600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
40	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
41	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:78177200-78194200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr14:78177200-78204800	Strong transcription	Liver	Liver
45	chr14:78177200-78205200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:78177200-78205400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:78177200-78223800	Strong transcription	Dnd41	blood
48	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:78177600-78206200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:78178400-78200000	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links