Variant report

Variant	rs57326310
Chromosome Location	chr14:39523196-39523197
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	chr14:39518100..39520463-chr14:39520996..39523566,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1002193	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10129762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131369	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10134166	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10135561	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10136637	0.82[AFR][1000 genomes]
rs10139666	0.87[EUR][1000 genomes]
rs10140763	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10141924	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10142117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142350	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145417	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10145476	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10146176	0.83[ASN][1000 genomes]
rs10148712	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10151124	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483543	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1050136	0.84[ASN][1000 genomes]
rs11622731	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11622968	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11624584	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11849209	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11850579	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851680	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12587208	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17092044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092050	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17108948	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2144529	0.81[ASN][1000 genomes]
rs2144530	0.90[ASN][1000 genomes]
rs2180216	0.81[ASN][1000 genomes]
rs2273592	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28437577	0.83[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28501673	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28583114	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28666016	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28821293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3896147	0.81[EUR][1000 genomes]
rs45622837	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57482489	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58601678	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465524	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7155307	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.83[ASN][1000 genomes]
rs74048711	0.83[ASN][1000 genomes]
rs761805	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8018720	0.90[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs8022510	0.88[ASN][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][1000 genomes];0.81[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr14:39498000-39524200	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:39498200-39524200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:39498200-39524400	Strong transcription	Fetal Intestine Large	intestine
4	chr14:39498400-39524800	Weak transcription	K562	blood
5	chr14:39498600-39524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:39498600-39524800	Strong transcription	Adipose Nuclei	Adipose
7	chr14:39499000-39523200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:39499000-39523600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:39499000-39524200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr14:39499000-39524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:39499000-39524800	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:39499000-39525000	Strong transcription	Liver	Liver
13	chr14:39499600-39524600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr14:39500000-39524400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:39500000-39524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:39500000-39525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:39501400-39524800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:39502600-39524200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:39504200-39524000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39506200-39524800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:39508000-39524400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:39508400-39523400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:39510000-39524200	Weak transcription	Fetal Brain Male	brain
24	chr14:39510000-39524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:39511000-39524000	Strong transcription	HSMMtube	muscle
26	chr14:39511000-39524600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:39511000-39524600	Strong transcription	Placenta	Placenta
28	chr14:39511200-39524200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:39511200-39524800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:39511200-39525000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:39511400-39524200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr14:39512600-39524400	Strong transcription	Fetal Thymus	thymus
33	chr14:39512600-39525000	Strong transcription	Fetal Lung	lung
34	chr14:39513600-39525000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:39514000-39524200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:39514800-39524200	Strong transcription	Primary T cells from cord blood	blood
37	chr14:39514800-39524400	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:39514800-39524800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr14:39514800-39525000	Strong transcription	Left Ventricle	heart
40	chr14:39515200-39524200	Strong transcription	Primary B cells from cord blood	blood
41	chr14:39515200-39524400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:39515200-39525000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr14:39516000-39525000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:39516600-39524800	Weak transcription	NHEK	skin
45	chr14:39516600-39525000	Weak transcription	Stomach Mucosa	stomach
46	chr14:39517400-39523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39517400-39523600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:39517400-39525000	Strong transcription	Fetal Stomach	stomach
49	chr14:39517800-39525200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:39518600-39523800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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