Variant report

Variant	rs73257446
Chromosome Location	chr5:114605514-114605515
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	chr5:114593990..114598856-chr5:114605325..114609897,4	K562	blood:
2	chr5:114604992..114607279-chr5:114608141..114610271,2	K562	blood:

Variant related genes	Relation type
ENSG00000164219	Chromatin interaction
ENSG00000271797	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17132480	0.92[AFR][1000 genomes]
rs17137549	0.92[AFR][1000 genomes]
rs17137556	0.92[AFR][1000 genomes]
rs17137563	0.92[AFR][1000 genomes]
rs35940728	1.00[AFR][1000 genomes]
rs57979677	0.89[AFR][1000 genomes]
rs58955791	0.92[AFR][1000 genomes]
rs59891755	1.00[AFR][1000 genomes]
rs59955726	0.92[AFR][1000 genomes]
rs60460575	0.92[AFR][1000 genomes]
rs73253428	0.84[AFR][1000 genomes]
rs73253432	0.92[AFR][1000 genomes]
rs73253434	0.92[AFR][1000 genomes]
rs73253440	0.92[AFR][1000 genomes]
rs73253463	0.92[AFR][1000 genomes]
rs73253466	0.92[AFR][1000 genomes]
rs73255427	0.92[AFR][1000 genomes]
rs73255447	0.92[AFR][1000 genomes]
rs73255479	0.92[AFR][1000 genomes]
rs73255484	0.92[AFR][1000 genomes]
rs73255489	0.92[AFR][1000 genomes]
rs73255491	0.92[AFR][1000 genomes]
rs73255494	0.92[AFR][1000 genomes]
rs73255498	0.92[AFR][1000 genomes]
rs73257403	0.89[AFR][1000 genomes]
rs73257406	0.92[AFR][1000 genomes]
rs73257411	0.86[AFR][1000 genomes]
rs73257413	0.92[AFR][1000 genomes]
rs73257417	0.86[AFR][1000 genomes]
rs73257425	0.92[AFR][1000 genomes]
rs73257437	0.92[AFR][1000 genomes]
rs73257462	1.00[AFR][1000 genomes]
rs73257485	1.00[AFR][1000 genomes]
rs73257491	0.92[AFR][1000 genomes]
rs73257494	0.92[AFR][1000 genomes]
rs73259410	0.92[AFR][1000 genomes]
rs73259416	0.92[AFR][1000 genomes]
rs73259426	0.92[AFR][1000 genomes]
rs7703973	0.92[AFR][1000 genomes]
rs7711888	0.92[AFR][1000 genomes]
rs7724266	0.92[AFR][1000 genomes]
rs7725609	0.92[AFR][1000 genomes]
rs7726219	0.92[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114598800-114608200	Weak transcription	Small Intestine	intestine
2	chr5:114598800-114612200	Weak transcription	Gastric	stomach
3	chr5:114598800-114613000	Weak transcription	Esophagus	oesophagus
4	chr5:114599000-114606200	Weak transcription	HSMMtube	muscle
5	chr5:114599000-114606400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:114599000-114606400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:114599000-114608800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:114599000-114610200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:114599000-114610200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:114599000-114610400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:114599000-114610600	Weak transcription	Pancreas	Pancrea
12	chr5:114599000-114610600	Weak transcription	NHLF	lung
13	chr5:114599000-114612200	Weak transcription	Right Ventricle	heart
14	chr5:114599000-114612800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:114599000-114612800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:114599000-114612800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:114599000-114612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:114599000-114612800	Weak transcription	Fetal Intestine Large	intestine
19	chr5:114599000-114612800	Weak transcription	Fetal Thymus	thymus
20	chr5:114599000-114614200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:114599000-114617000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:114599000-114617200	Weak transcription	Thymus	Thymus
23	chr5:114599000-114624000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:114599000-114626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
26	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:114599000-114631200	Weak transcription	HSMM	muscle
28	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
29	chr5:114599200-114606200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:114599200-114606200	Weak transcription	Primary T cells from cord blood	blood
31	chr5:114599200-114606200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:114599200-114606200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:114599200-114606400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:114599200-114606400	Weak transcription	Primary B cells from cord blood	blood
35	chr5:114599200-114606400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr5:114599200-114606400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:114599200-114608000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:114599200-114608000	Weak transcription	Adipose Nuclei	Adipose
39	chr5:114599200-114608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:114599200-114608800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr5:114599200-114609200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:114599200-114609200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:114599200-114609400	Weak transcription	Colonic Mucosa	Colon
44	chr5:114599200-114610200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:114599200-114610400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:114599200-114610400	Weak transcription	Fetal Lung	lung
47	chr5:114599200-114610400	Weak transcription	A549	lung
48	chr5:114599200-114611000	Weak transcription	Ovary	ovary
49	chr5:114599200-114611800	Weak transcription	Fetal Kidney	kidney
50	chr5:114599200-114612000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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