Variant report

Variant	rs72911287
Chromosome Location	chr3:47472981-47472982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47468827..47471837-chr3:47472368..47475711,3	K562	blood:
2	chr3:47465811..47468194-chr3:47471734..47473557,2	K562	blood:
3	chr3:47471759..47474582-chr3:47484532..47486796,2	K562	blood:
4	chr3:47468490..47471294-chr3:47472368..47475711,5	K562	blood:
5	chr3:47471198..47476124-chr3:47477779..47481546,5	K562	blood:
6	chr3:47471759..47475390-chr3:47483723..47486796,3	K562	blood:

Variant related genes	Relation type
ENSG00000114650	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1038392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56398518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59825859	0.89[AMR][1000 genomes]
rs72911242	0.81[AMR][1000 genomes]
rs72911269	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7642630	0.89[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47450400-47484800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:47456000-47473000	Strong transcription	Thymus	Thymus
4	chr3:47461800-47478800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:47463000-47485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:47463200-47473000	Weak transcription	NH-A	brain
7	chr3:47463200-47474400	Weak transcription	Fetal Kidney	kidney
8	chr3:47463400-47475400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:47463400-47477600	Strong transcription	Fetal Thymus	thymus
10	chr3:47463400-47484600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:47463600-47476800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:47463600-47476800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:47463600-47484800	Strong transcription	Primary T cells from cord blood	blood
14	chr3:47463800-47473000	Strong transcription	Fetal Stomach	stomach
15	chr3:47463800-47476800	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:47463800-47479400	Weak transcription	A549	lung
17	chr3:47464000-47474800	Weak transcription	HSMM	muscle
18	chr3:47464000-47476600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr3:47464000-47476800	Strong transcription	Dnd41	blood
20	chr3:47464000-47484200	Weak transcription	Right Atrium	heart
21	chr3:47464600-47473200	Strong transcription	Primary B cells from cord blood	blood
22	chr3:47464600-47474000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:47464600-47476800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:47464600-47476800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:47464800-47476600	Strong transcription	Spleen	Spleen
26	chr3:47464800-47477200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:47465200-47476600	Strong transcription	Lung	lung
28	chr3:47465200-47476800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:47465200-47476800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:47465200-47476800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:47465200-47476800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:47465400-47473200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:47465400-47484600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr3:47465600-47476800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:47465600-47476800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:47465600-47476800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:47465600-47484200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr3:47466200-47475200	Weak transcription	Small Intestine	intestine
39	chr3:47466400-47473000	Weak transcription	HMEC	breast
40	chr3:47467000-47474400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:47467000-47474600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr3:47467600-47474400	Weak transcription	NHLF	lung
43	chr3:47467800-47474400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr3:47467800-47474800	Weak transcription	Psoas Muscle	Psoas
45	chr3:47467800-47475400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:47469200-47484400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:47469600-47473000	Weak transcription	Osteobl	bone
48	chr3:47469800-47474600	Weak transcription	Fetal Lung	lung
49	chr3:47470000-47473000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:47470000-47474400	Weak transcription	HSMMtube	muscle

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