Variant report

Variant	rs72865102
Chromosome Location	chr3:43627141-43627142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43626913..43628469-chr3:43681334..43682854,2	K562	blood:
2	chr3:43624986..43627370-chr3:43630211..43632128,5	K562	blood:
3	chr3:43626940..43629718-chr3:43630634..43633041,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10510737	0.96[AFR][1000 genomes]
rs17075754	0.96[AFR][1000 genomes]
rs17075829	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1842805	0.96[AFR][1000 genomes]
rs1905181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57790719	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57838122	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60329676	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6763411	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6769241	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6772068	0.96[AFR][1000 genomes]
rs6800306	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6802567	0.85[AFR][1000 genomes]
rs6803386	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72865005	0.86[AFR][1000 genomes]
rs72865027	0.95[AFR][1000 genomes]
rs72865029	0.95[AFR][1000 genomes]
rs72865044	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72865091	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865095	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865099	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72866821	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72866837	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72866845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7628239	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7636753	0.92[AFR][1000 genomes]
rs7642287	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7651078	0.86[AFR][1000 genomes]
rs922642	0.96[AFR][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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
2	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
3	chr3:43584000-43632800	Weak transcription	Small Intestine	intestine
4	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
5	chr3:43587200-43632000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:43587800-43634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:43590600-43636400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:43595000-43632600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:43595800-43632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:43596600-43632000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:43596600-43632600	Weak transcription	HSMMtube	muscle
13	chr3:43597200-43628800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:43601600-43631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:43602000-43632600	Weak transcription	Esophagus	oesophagus
16	chr3:43602600-43632800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:43614000-43632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:43614000-43632600	Weak transcription	Fetal Intestine Small	intestine
19	chr3:43614400-43632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:43614400-43632600	Weak transcription	Gastric	stomach
21	chr3:43614600-43653800	Weak transcription	HepG2	liver
22	chr3:43616800-43633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:43618400-43639400	Weak transcription	Liver	Liver
24	chr3:43618600-43632600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:43618600-43632600	Weak transcription	Adipose Nuclei	Adipose
26	chr3:43618600-43632600	Weak transcription	Fetal Intestine Large	intestine
27	chr3:43618600-43632600	Weak transcription	Placenta	Placenta
28	chr3:43618600-43633000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:43618600-43644000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:43618600-43649600	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:43618600-43654400	Weak transcription	Colonic Mucosa	Colon
32	chr3:43618600-43662400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:43618800-43632600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:43618800-43632800	Weak transcription	Left Ventricle	heart
35	chr3:43619000-43631400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:43619600-43631800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:43619600-43632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:43619600-43632800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:43619800-43632600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:43620000-43632600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:43621800-43632200	Weak transcription	Fetal Muscle Leg	muscle
42	chr3:43622000-43627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:43622000-43627600	Weak transcription	Ovary	ovary
44	chr3:43622000-43632400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr3:43622000-43632600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:43622000-43632600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:43622000-43632600	Weak transcription	Fetal Stomach	stomach
48	chr3:43622200-43630800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr3:43622200-43648400	Weak transcription	HMEC	breast
50	chr3:43623400-43632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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