Variant report

Variant	rs8020026
Chromosome Location	chr14:70132213-70132214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70129166..70132900-chr14:70155782..70158446,3	K562	blood:
2	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
3	chr14:70130032..70132900-chr14:70156054..70158446,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11620826	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623812	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11627867	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11629212	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587433	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275747	0.90[ASN][1000 genomes]
rs1275748	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1275749	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17107177	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957365	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275124	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784143	0.95[EUR][1000 genomes]
rs3784144	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784149	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3825736	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899310	0.81[ASN][1000 genomes]
rs4902742	0.82[EUR][1000 genomes]
rs61980727	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61980737	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982060	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61982061	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010776	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70125600-70132600	Weak transcription	HSMMtube	muscle
4	chr14:70125800-70133400	Weak transcription	HSMM	muscle
5	chr14:70125800-70133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:70127200-70133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:70127400-70133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70127400-70133800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:70127400-70134200	Enhancers	Colon Smooth Muscle	Colon
11	chr14:70127400-70134200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:70127600-70134800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:70127600-70135000	Enhancers	Adipose Nuclei	Adipose
15	chr14:70127600-70135000	Enhancers	Psoas Muscle	Psoas
16	chr14:70127800-70133000	Enhancers	HepG2	liver
17	chr14:70127800-70133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:70127800-70134000	Enhancers	Fetal Intestine Large	intestine
19	chr14:70128000-70132600	Enhancers	Right Ventricle	heart
20	chr14:70128000-70133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70128200-70133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:70128400-70132800	Weak transcription	HUVEC	blood vessel
24	chr14:70128400-70133800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:70128400-70136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:70128600-70133600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:70129000-70132400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:70129000-70132800	Weak transcription	Esophagus	oesophagus
32	chr14:70129000-70134000	Enhancers	Liver	Liver
33	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
34	chr14:70129200-70133000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:70129200-70133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:70129200-70135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:70129400-70133200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:70129400-70134200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:70129400-70134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:70129600-70134200	Enhancers	Fetal Heart	heart
41	chr14:70129800-70134000	Enhancers	K562	blood
42	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr14:70130000-70132400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:70130000-70132400	Enhancers	Left Ventricle	heart
45	chr14:70130000-70132400	Enhancers	Lung	lung
46	chr14:70130000-70132400	Enhancers	Pancreas	Pancrea
47	chr14:70130000-70132600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:70130000-70148800	Weak transcription	NHEK	skin
50	chr14:70130200-70132400	Weak transcription	NHDF-Ad	bronchial

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