Variant report

Variant	rs58112821
Chromosome Location	chr14:97037356-97037357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97034631..97037578-chr14:97040490..97042712,2	K562	blood:
2	chr14:97032756..97036569-chr14:97036806..97040099,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10136266	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136277	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139164	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140247	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10143834	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144704	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10467873	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160341	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160343	0.88[AFR][1000 genomes]
rs11160344	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621566	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621778	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623142	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625090	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627288	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848720	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11848778	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147439	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329034	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379390	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484251	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094149	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274795	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28718054	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28738720	0.85[EUR][1000 genomes]
rs2887550	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4514608	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56184178	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56960368	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60920648	0.86[EUR][1000 genomes]
rs61435932	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61570427	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66881740	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7142806	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7146883	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7160148	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013517	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs965950	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv977612	chr14:97037072-97040541	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:97008200-97039400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:97008400-97038400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:97008600-97040200	Strong transcription	Fetal Thymus	thymus
7	chr14:97010200-97040200	Strong transcription	Primary B cells from cord blood	blood
8	chr14:97016800-97039200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:97019800-97038800	Weak transcription	Small Intestine	intestine
11	chr14:97020200-97039400	Weak transcription	Psoas Muscle	Psoas
12	chr14:97020200-97039600	Weak transcription	Gastric	stomach
13	chr14:97020200-97042600	Weak transcription	Esophagus	oesophagus
14	chr14:97020400-97040400	Weak transcription	Aorta	Aorta
15	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
16	chr14:97020800-97040800	Weak transcription	Colonic Mucosa	Colon
17	chr14:97023200-97039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:97023200-97040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:97023200-97046400	Weak transcription	K562	blood
20	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:97023600-97041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart
24	chr14:97023800-97038000	Weak transcription	Brain Angular Gyrus	brain
25	chr14:97023800-97040200	Weak transcription	Fetal Stomach	stomach
26	chr14:97023800-97040600	Weak transcription	Pancreas	Pancrea
27	chr14:97023800-97040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:97023800-97042400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:97023800-97043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:97023800-97044800	Weak transcription	Lung	lung
31	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
32	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:97024000-97038200	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:97024000-97040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:97024000-97040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:97026200-97041000	Weak transcription	Brain Germinal Matrix	brain
38	chr14:97026800-97039600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:97027600-97040600	Weak transcription	HSMMtube	muscle
40	chr14:97030000-97040200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:97031200-97040400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:97031600-97038600	Weak transcription	Thymus	Thymus
43	chr14:97031600-97040000	Weak transcription	NHEK	skin
44	chr14:97031600-97042400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:97031800-97038000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:97032000-97039600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:97032000-97039600	Weak transcription	HepG2	liver
48	chr14:97032000-97040000	Weak transcription	NHLF	lung
49	chr14:97032000-97040800	Weak transcription	Brain Anterior Caudate	brain
50	chr14:97032200-97039800	Weak transcription	Fetal Kidney	kidney

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