Variant report

Variant	rs8012235
Chromosome Location	chr14:39801355-39801356
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10130584	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10135713	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10142118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10143290	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10144680	0.83[EUR][1000 genomes]
rs10146207	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10148678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148762	0.90[EUR][1000 genomes]
rs10150863	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1040811	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10483539	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10782392	0.86[EUR][1000 genomes]
rs10872919	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11157055	0.86[EUR][1000 genomes]
rs12434446	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2025029	0.86[EUR][1000 genomes]
rs2094275	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2099409	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2117338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2274398	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783292	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899219	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899237	0.81[AMR][1000 genomes]
rs4902500	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571914	0.93[EUR][1000 genomes]
rs6571916	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571917	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6571918	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571934	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6571935	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6571936	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7140561	0.85[AFR][1000 genomes]
rs7143289	0.90[AFR][1000 genomes]
rs7156249	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7158384	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7158558	0.85[AFR][1000 genomes]
rs7158633	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7159584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8006412	0.81[AMR][1000 genomes]
rs8010635	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010826	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8019161	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
3	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:39759400-39801800	Weak transcription	NHLF	lung
7	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
8	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
16	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
17	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
21	chr14:39772600-39808000	Weak transcription	Fetal Heart	heart
22	chr14:39773200-39802400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:39773400-39801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:39779000-39801400	Weak transcription	Fetal Thymus	thymus
25	chr14:39782800-39808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:39785600-39802000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:39786400-39801400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:39786400-39801600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:39786600-39801600	Weak transcription	Aorta	Aorta
30	chr14:39786600-39801600	Weak transcription	Esophagus	oesophagus
31	chr14:39786600-39801600	Weak transcription	Gastric	stomach
32	chr14:39786600-39801600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
34	chr14:39786800-39801600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:39786800-39801600	Weak transcription	Psoas Muscle	Psoas
36	chr14:39786800-39802400	Weak transcription	Pancreas	Pancrea
37	chr14:39786800-39808000	Weak transcription	K562	blood
38	chr14:39786800-39823000	Strong transcription	Liver	Liver
39	chr14:39788200-39801800	Weak transcription	NHEK	skin
40	chr14:39788800-39801400	Weak transcription	NH-A	brain
41	chr14:39789400-39809600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:39790400-39801800	Weak transcription	HSMM	muscle
43	chr14:39791600-39801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:39791600-39804800	Weak transcription	Fetal Brain Female	brain
45	chr14:39792400-39801400	Weak transcription	A549	lung
46	chr14:39792600-39801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:39792600-39813800	Weak transcription	NHDF-Ad	bronchial
48	chr14:39792800-39802400	Weak transcription	Osteobl	bone
49	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung

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