Variant report

Variant	rs28621419
Chromosome Location	chr1:226416186-226416187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10915963	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11579072	0.81[AFR][1000 genomes]
rs17575721	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2169568	0.81[AFR][1000 genomes]
rs4082281	0.86[ASN][1000 genomes]
rs41357249	0.82[ASN][1000 genomes]
rs57707220	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58149851	0.84[AFR][1000 genomes]
rs66950676	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67392783	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67440774	0.85[AFR][1000 genomes]
rs67810611	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68046363	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72764505	0.85[AFR][1000 genomes]
rs9659181	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226411800-226416200	Weak transcription	Dnd41	blood
2	chr1:226412000-226416400	Weak transcription	K562	blood
3	chr1:226412000-226417400	Weak transcription	Left Ventricle	heart
4	chr1:226412000-226417800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:226412000-226417800	Weak transcription	Right Ventricle	heart
6	chr1:226412000-226417800	Weak transcription	HSMM	muscle
7	chr1:226412000-226418200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226412000-226424200	Weak transcription	Psoas Muscle	Psoas
9	chr1:226412000-226426200	Weak transcription	Lung	lung
10	chr1:226412000-226427600	Weak transcription	Spleen	Spleen
11	chr1:226412000-226428000	Weak transcription	Pancreas	Pancrea
12	chr1:226412000-226429400	Weak transcription	Gastric	stomach
13	chr1:226412000-226431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:226412000-226449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:226412000-226455400	Weak transcription	Ovary	ovary
16	chr1:226412000-226456200	Weak transcription	NH-A	brain
17	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
18	chr1:226412200-226417200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:226412200-226417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:226412200-226417600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:226412200-226417800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:226412200-226417800	Weak transcription	HUVEC	blood vessel
23	chr1:226412200-226424000	Weak transcription	NHEK	skin
24	chr1:226412200-226424400	Weak transcription	A549	lung
25	chr1:226412200-226424400	Weak transcription	HMEC	breast
26	chr1:226412200-226425800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:226412200-226426000	Weak transcription	Brain Substantia Nigra	brain
28	chr1:226412200-226428000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:226412200-226437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226412200-226448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:226412400-226417000	Weak transcription	Primary T cells from cord blood	blood
34	chr1:226412400-226424400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:226412400-226435600	Weak transcription	Hela-S3	cervix
36	chr1:226412400-226442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:226412400-226443000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:226412400-226443000	Weak transcription	Osteobl	bone
39	chr1:226412400-226446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:226412600-226416200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:226412800-226421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:226413000-226445000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:226413000-226448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:226413200-226424400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
46	chr1:226413400-226417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:226413400-226419800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:226413600-226416200	Weak transcription	Fetal Thymus	thymus
49	chr1:226413600-226417600	Weak transcription	Fetal Stomach	stomach
50	chr1:226413600-226424400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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