Variant report

Variant	rs2273775
Chromosome Location	chr1:186292463-186292464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186291321..186293772-chr1:186343182..186344896,2	MCF-7	breast:
2	chr1:186290710..186293581-chr1:186342428..186344666,2	K562	blood:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction
ENSG00000157181	Chromatin interaction

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

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

rs_ID	r²[population]
rs11799811	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11799843	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11805289	0.88[AMR][1000 genomes]
rs11805302	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11806068	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11806304	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11809402	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11811320	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12728791	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12733799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12739797	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12740221	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12742751	0.88[AMR][1000 genomes]
rs12749203	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919194	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273774	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293569	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293570	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34467087	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34552348	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924250	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35131069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35146131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35942197	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3766698	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3766701	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817586	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57716405	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71634159	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 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	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186277600-186295200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
5	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:186278600-186292800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:186279400-186295800	Strong transcription	A549	lung
9	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
10	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:186280000-186340400	Strong transcription	Dnd41	blood
15	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:186280000-186342400	Strong transcription	Osteobl	bone
19	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:186280000-186342600	Strong transcription	HSMM	muscle
21	chr1:186280200-186295800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:186280200-186297200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
24	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:186281000-186341800	Strong transcription	Liver	Liver
30	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:186281200-186295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:186281200-186297400	Strong transcription	NHDF-Ad	bronchial
33	chr1:186281200-186297600	Strong transcription	Fetal Intestine Large	intestine
34	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
36	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
39	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:186281200-186342200	Strong transcription	NH-A	brain
41	chr1:186281400-186295600	Strong transcription	Fetal Lung	lung
42	chr1:186281400-186297600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
48	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:186281600-186297200	Strong transcription	Muscle Satellite Cultured Cells	--

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