Variant report

Variant	rs10134425
Chromosome Location	chr14:78200392-78200393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1006038	0.90[CHB][hapmap]
rs1006039	0.91[CHB][hapmap]
rs1006040	0.90[CHB][hapmap]
rs1008988	0.95[CHB][hapmap]
rs10138747	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139492	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10142722	0.90[CHB][hapmap]
rs10143249	0.89[ASN][1000 genomes]
rs10143294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10144448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10146255	0.92[ASN][1000 genomes]
rs1048147	0.90[CHB][hapmap]
rs10483885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs114763	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621719	0.85[ASN][1000 genomes]
rs11622761	0.85[ASN][1000 genomes]
rs11624118	0.85[ASN][1000 genomes]
rs11628888	0.85[CHB][hapmap]
rs11846215	0.84[ASN][1000 genomes]
rs12879880	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885306	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12887313	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890728	0.85[CHB][hapmap]
rs12890828	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477262	0.90[CHB][hapmap]
rs1477263	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477264	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106157	0.91[CHB][hapmap]
rs176941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176943	0.90[CHB][hapmap]
rs176946	0.90[CHB][hapmap]
rs176947	0.93[ASN][1000 genomes]
rs176948	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176951	0.91[CHB][hapmap]
rs176954	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176955	0.90[CHB][hapmap]
rs176956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176961	1.00[ASN][1000 genomes]
rs176963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176964	0.91[CHB][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176969	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176970	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176972	0.99[ASN][1000 genomes]
rs176975	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176977	0.96[ASN][1000 genomes]
rs176980	0.90[CHB][hapmap]
rs2080703	0.92[ASN][1000 genomes]
rs2111831	0.81[ASN][1000 genomes]
rs2267756	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267759	0.91[CHB][hapmap]
rs2267760	0.90[CHB][hapmap]
rs2267761	0.91[CHB][hapmap]
rs2267762	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2267763	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267764	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267766	0.87[AMR][1000 genomes]
rs2277917	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2284233	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2284234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299930	0.90[CHB][hapmap]
rs3759728	0.90[CHB][hapmap]
rs3783980	0.90[CHB][hapmap]
rs3783981	0.92[ASN][1000 genomes]
rs3783982	0.92[ASN][1000 genomes]
rs4632066	0.90[CHB][hapmap]
rs4641655	0.92[ASN][1000 genomes]
rs4899670	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4899673	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4899674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61992864	0.80[ASN][1000 genomes]
rs61992867	0.83[ASN][1000 genomes]
rs61992868	0.83[ASN][1000 genomes]
rs6574392	0.96[ASN][1000 genomes]
rs6574394	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574404	0.86[CHB][hapmap]
rs7142390	0.91[CHB][hapmap]
rs7143926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145717	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148078	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7148126	0.92[ASN][1000 genomes]
rs7150531	0.90[ASN][1000 genomes]
rs7151685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7154571	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159310	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7160355	0.95[ASN][1000 genomes]
rs717682	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs759713	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs8003691	0.90[CHB][hapmap]
rs8010541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8011337	0.90[CHB][hapmap]
rs8015645	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs8016447	0.90[CHB][hapmap]
rs8022516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323649	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9323650	0.90[CHB][hapmap]
rs9323651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
13	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
16	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
21	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:78177000-78204600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:78177000-78204600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
38	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
39	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:78177200-78204800	Strong transcription	Liver	Liver
42	chr14:78177200-78205200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:78177200-78205400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:78177200-78223800	Strong transcription	Dnd41	blood
45	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:78177600-78206200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:78180000-78204800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:78180200-78204600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:78180200-78205600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:78180400-78204600	Strong transcription	Brain Substantia Nigra	brain

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