Variant report

Variant	rs73273623
Chromosome Location	chr14:55657169-55657170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55517345..55520488-chr14:55656247..55658381,3	K562	blood:
2	chr14:55634555..55636876-chr14:55655010..55657376,2	K562	blood:
3	chr14:55516908..55519746-chr14:55654326..55658338,3	K562	blood:
4	chr14:55654827..55657243-chr14:55881202..55883542,2	K562	blood:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10129161	1.00[EUR][1000 genomes]
rs10132875	1.00[EUR][1000 genomes]
rs10133915	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10136880	1.00[EUR][1000 genomes]
rs10138550	0.88[AMR][1000 genomes]
rs10140881	0.95[ASN][1000 genomes]
rs10141323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10498473	0.88[AMR][1000 genomes]
rs11844443	0.98[ASN][1000 genomes]
rs1971474	1.00[EUR][1000 genomes]
rs2296490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2340932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2340935	0.88[ASN][1000 genomes]
rs28379289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28405981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28547246	0.94[ASN][1000 genomes]
rs28676392	0.98[ASN][1000 genomes]
rs2879891	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759668	1.00[EUR][1000 genomes]
rs6573008	0.98[ASN][1000 genomes]
rs6650507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7157520	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157768	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7159490	0.98[ASN][1000 genomes]
rs73271796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003961	0.98[ASN][1000 genomes]
rs8009660	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012105	0.98[ASN][1000 genomes]
rs8017256	0.98[ASN][1000 genomes]
rs8021306	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8022890	0.88[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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:55646800-55657200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:55649800-55657600	Weak transcription	Placenta	Placenta
6	chr14:55655200-55658000	Flanking Active TSS	HUVEC	blood vessel
7	chr14:55655600-55657800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr14:55655800-55657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:55655800-55657600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr14:55656000-55657200	Enhancers	Fetal Heart	heart
11	chr14:55656000-55657200	Enhancers	Fetal Lung	lung
12	chr14:55656000-55659000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:55656200-55657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:55656200-55657400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:55656200-55657600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:55656200-55657600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:55656200-55657600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:55656200-55657600	Flanking Active TSS	Dnd41	blood
19	chr14:55656200-55657800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:55656200-55658000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:55656200-55659000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:55656200-55659200	Active TSS	NHDF-Ad	bronchial
23	chr14:55656400-55657200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:55656400-55657400	Flanking Active TSS	NHEK	skin
25	chr14:55656400-55657600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:55656400-55659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:55656400-55659000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:55656600-55657600	Active TSS	Fetal Brain Female	brain
29	chr14:55656600-55657800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr14:55656600-55657800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:55656600-55658800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:55656600-55658800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:55656600-55659000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr14:55656600-55659000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:55656600-55659200	Active TSS	HSMM	muscle
36	chr14:55656600-55659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:55656800-55657200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:55656800-55657400	Weak transcription	Gastric	stomach
39	chr14:55656800-55657400	Active TSS	NH-A	brain
40	chr14:55656800-55658800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:55656800-55658800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:55656800-55658800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:55656800-55659000	Active TSS	NHLF	lung
44	chr14:55657000-55657200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:55657000-55657200	Active TSS	Muscle Satellite Cultured Cells	--
46	chr14:55657000-55657200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:55657000-55657200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:55657000-55657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:55657000-55657200	Active TSS	Fetal Stomach	stomach
50	chr14:55657000-55657400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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