Variant report

Variant	rs74053658
Chromosome Location	chr14:56132579-56132580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56123511..56126228-chr14:56130259..56133014,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1951888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56322135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56723444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57382615	1.00[ASN][1000 genomes]
rs59821184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61533026	0.88[AFR][1000 genomes]
rs74051603	0.90[AFR][1000 genomes]
rs74053630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009454	0.82[AFR][1000 genomes];1.00[AMR][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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56088400-56153200	Weak transcription	Gastric	stomach
4	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:56094400-56132600	Strong transcription	HSMM	muscle
6	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
11	chr14:56102400-56145200	Weak transcription	Lung	lung
12	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
13	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
15	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
19	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:56115000-56155000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr14:56118400-56138400	Weak transcription	HSMMtube	muscle
23	chr14:56119200-56139200	Weak transcription	K562	blood
24	chr14:56120000-56139200	Weak transcription	Brain Angular Gyrus	brain
25	chr14:56122000-56138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:56122000-56145400	Weak transcription	Pancreas	Pancrea
27	chr14:56122200-56138400	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:56122200-56138600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:56122400-56145000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:56122400-56145400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:56122400-56152600	Weak transcription	Esophagus	oesophagus
32	chr14:56122400-56164800	Weak transcription	Small Intestine	intestine
33	chr14:56124000-56137400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:56124000-56138400	Weak transcription	Brain Substantia Nigra	brain
35	chr14:56124000-56142200	Weak transcription	Fetal Kidney	kidney
36	chr14:56124800-56138200	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:56125000-56144600	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:56125200-56137800	Weak transcription	NHLF	lung
39	chr14:56126200-56137400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:56127000-56138200	Weak transcription	HepG2	liver
41	chr14:56128200-56145200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:56128200-56149800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:56129200-56143800	Weak transcription	Fetal Intestine Small	intestine
44	chr14:56129200-56144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:56129200-56145200	Weak transcription	Fetal Stomach	stomach
46	chr14:56129800-56134400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:56129800-56135000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:56129800-56136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:56129800-56137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:56129800-56137600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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