Variant report

Variant	rs4835292
Chromosome Location	chr4:147222054-147222055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147215452..147218404-chr4:147220056..147222242,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10008275	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10010528	0.86[ASN][1000 genomes]
rs10013722	0.86[ASN][1000 genomes]
rs10027135	0.82[ASN][1000 genomes]
rs10032088	0.81[ASN][1000 genomes]
rs11735261	0.98[ASN][1000 genomes]
rs11736003	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11939345	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11947781	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17021396	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28521842	0.86[ASN][1000 genomes]
rs28625764	0.82[ASN][1000 genomes]
rs4835033	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835294	0.82[ASN][1000 genomes]
rs4835296	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835297	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4835299	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55798872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57713263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6846294	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6846584	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6857911	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9784436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9784437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9996311	0.86[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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:147180400-147233200	Weak transcription	Liver	Liver
4	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:147201000-147224800	Weak transcription	HMEC	breast
6	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
11	chr4:147208200-147234200	Weak transcription	Lung	lung
12	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
14	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:147208400-147254600	Weak transcription	Gastric	stomach
18	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
19	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:147209600-147225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:147209600-147229200	Weak transcription	Ovary	ovary
25	chr4:147209800-147222600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:147210400-147227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:147212800-147229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:147213400-147223600	Weak transcription	GM12878-XiMat	blood
30	chr4:147213600-147225400	Weak transcription	Primary B cells from cord blood	blood
31	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
32	chr4:147221000-147225800	Weak transcription	HSMMtube	muscle
33	chr4:147221000-147227200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:147221200-147227600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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