Variant report

Variant	rs72988254
Chromosome Location	chr3:141648117-141648118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141645508..141649980-chr3:141650119..141655905,6	K562	blood:
2	chr3:141646387..141648492-chr3:141652894..141655843,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16851955	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16851963	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41265477	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72988233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72988236	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72988253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
3	chr3:141623600-141652400	Strong transcription	Fetal Thymus	thymus
4	chr3:141624600-141649200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:141625600-141668400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:141626600-141659000	Weak transcription	Pancreas	Pancrea
7	chr3:141627600-141649200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:141627800-141652600	Weak transcription	Brain Anterior Caudate	brain
9	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:141628600-141658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
13	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
15	chr3:141632000-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:141632400-141654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:141633000-141659000	Weak transcription	NHLF	lung
18	chr3:141634200-141648600	Weak transcription	Aorta	Aorta
19	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:141634400-141648600	Weak transcription	Fetal Kidney	kidney
21	chr3:141634400-141656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:141635400-141648200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:141635400-141648600	Strong transcription	Fetal Intestine Large	intestine
24	chr3:141635800-141652400	Weak transcription	HSMM	muscle
25	chr3:141635800-141652600	Strong transcription	Thymus	Thymus
26	chr3:141637400-141658800	Weak transcription	Brain Germinal Matrix	brain
27	chr3:141638200-141648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:141638600-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:141640200-141648200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:141640200-141650200	Weak transcription	GM12878-XiMat	blood
31	chr3:141640600-141656400	Weak transcription	Fetal Brain Male	brain
32	chr3:141640600-141658800	Weak transcription	Fetal Heart	heart
33	chr3:141640800-141659200	Weak transcription	Colonic Mucosa	Colon
34	chr3:141640800-141659200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:141641000-141652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:141641200-141648200	Weak transcription	HepG2	liver
37	chr3:141641200-141648800	Strong transcription	Fetal Stomach	stomach
38	chr3:141642800-141648800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:141642800-141658600	Weak transcription	A549	lung
40	chr3:141643000-141656400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:141643000-141656400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:141643000-141675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:141643400-141671200	Weak transcription	Right Ventricle	heart
44	chr3:141643600-141650200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:141644800-141649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:141644800-141650000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:141644800-141650000	Weak transcription	Osteobl	bone
48	chr3:141644800-141652400	Weak transcription	HSMMtube	muscle
49	chr3:141644800-141658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:141644800-141658600	Weak transcription	NHDF-Ad	bronchial

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