Variant report

Variant	rs4279905
Chromosome Location	chr1:211780431-211780432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211756541..211758387-chr1:211778493..211780947,2	K562	blood:
2	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
3	chr1:211763176..211765854-chr1:211779475..211781006,2	K562	blood:
4	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
5	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
6	chr1:211775675..211778278-chr1:211779018..211782912,5	K562	blood:
7	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:
8	chr1:211778982..211780566-chr1:211824273..211827147,2	K562	blood:
9	chr1:211762463..211765854-chr1:211778944..211781006,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000222080	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17640020	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17696510	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28408172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603227	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs61851767	0.81[ASN][1000 genomes]
rs633972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540692	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9430076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:211777000-211780600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:211777000-211780600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:211777000-211781000	Weak transcription	Stomach Mucosa	stomach
6	chr1:211777000-211782600	Weak transcription	Hela-S3	cervix
7	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:211777200-211782600	Weak transcription	Osteobl	bone
9	chr1:211777200-211786200	Weak transcription	NHLF	lung
10	chr1:211777400-211780600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:211777400-211784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:211777400-211784200	Weak transcription	NHDF-Ad	bronchial
13	chr1:211777600-211780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:211777600-211782600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:211778000-211780600	Weak transcription	Fetal Intestine Large	intestine
16	chr1:211778200-211781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:211778400-211781200	Weak transcription	Liver	Liver
18	chr1:211778600-211782600	Weak transcription	A549	lung
19	chr1:211778800-211780600	Active TSS	K562	blood
20	chr1:211778800-211781000	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:211778800-211781200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr1:211779000-211780600	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:211779000-211781000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:211779000-211781400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:211779200-211781000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr1:211779200-211784600	Weak transcription	Right Atrium	heart
27	chr1:211779400-211780800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:211779400-211781000	Active TSS	Brain Hippocampus Middle	brain
29	chr1:211779600-211780600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:211779600-211780600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:211779600-211780800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:211779600-211781000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:211779600-211784600	Weak transcription	Lung	lung
34	chr1:211779800-211780600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:211779800-211780600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:211779800-211780800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:211779800-211780800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:211779800-211781000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:211779800-211781000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:211779800-211781200	Weak transcription	Colonic Mucosa	Colon
41	chr1:211780000-211780600	Flanking Active TSS	Fetal Thymus	thymus
42	chr1:211780000-211780600	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:211780000-211780800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:211780000-211780800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:211780000-211781800	Weak transcription	Small Intestine	intestine
46	chr1:211780000-211784200	Weak transcription	Brain Anterior Caudate	brain
47	chr1:211780000-211784200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:211780000-211784800	Weak transcription	Esophagus	oesophagus
49	chr1:211780200-211780600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:211780200-211780600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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