Variant report

Variant	rs4855448
Chromosome Location	chr3:69834473-69834474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69820056..69823613-chr3:69833464..69836716,3	K562	blood:
2	chr3:69824164..69825783-chr3:69833410..69835761,2	MCF-7	breast:
3	chr3:69810847..69812666-chr3:69831696..69834546,2	MCF-7	breast:
4	chr3:69704610..69707455-chr3:69833061..69835848,2	K562	blood:

Variant related genes	Relation type
ENSG00000187098	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11128143	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367369	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17043851	0.81[ASN][1000 genomes]
rs2116000	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28378222	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28613540	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4605553	0.81[ASN][1000 genomes]
rs55921103	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55947901	0.83[ASN][1000 genomes]
rs57537586	0.87[ASN][1000 genomes]
rs58244283	0.83[ASN][1000 genomes]
rs60551165	0.81[ASN][1000 genomes]
rs62250976	0.89[ASN][1000 genomes]
rs62250977	0.88[ASN][1000 genomes]
rs6762369	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6785461	0.84[ASN][1000 genomes]
rs6786207	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6786226	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7648607	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9834743	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69824000-69837000	Weak transcription	Lung	lung
2	chr3:69827400-69839200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:69828400-69836600	Enhancers	Fetal Heart	heart
4	chr3:69830000-69835600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:69830000-69836000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:69831000-69835600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:69832800-69836000	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:69833000-69835200	Enhancers	Brain Hippocampus Middle	brain
9	chr3:69833000-69835200	Enhancers	Brain Substantia Nigra	brain
10	chr3:69833000-69836000	Enhancers	HSMMtube	muscle
11	chr3:69833200-69836400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:69833200-69836400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:69833200-69837200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:69833200-69837200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:69833200-69837200	Enhancers	NHLF	lung
16	chr3:69833200-69838000	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:69833400-69834800	Enhancers	Fetal Stomach	stomach
18	chr3:69833400-69837200	Enhancers	NHDF-Ad	bronchial
19	chr3:69833600-69835000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:69833600-69837200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:69833800-69834800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:69833800-69834800	Flanking Active TSS	K562	blood
23	chr3:69833800-69835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:69833800-69835000	Enhancers	Osteobl	bone
25	chr3:69833800-69836800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr3:69833800-69837200	Enhancers	Fetal Lung	lung
27	chr3:69833800-69837200	Enhancers	Hela-S3	cervix
28	chr3:69833800-69837200	Enhancers	NHEK	skin
29	chr3:69834000-69834600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:69834000-69834600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:69834000-69834600	Enhancers	Fetal Muscle Trunk	muscle
32	chr3:69834000-69834600	Enhancers	Fetal Muscle Leg	muscle
33	chr3:69834000-69834800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:69834000-69834800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:69834000-69834800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:69834000-69834800	Enhancers	Aorta	Aorta
37	chr3:69834000-69835000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:69834000-69835000	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr3:69834000-69835000	Enhancers	Fetal Thymus	thymus
40	chr3:69834000-69835000	Enhancers	HUVEC	blood vessel
41	chr3:69834000-69835200	Enhancers	Brain Cingulate Gyrus	brain
42	chr3:69834000-69835400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:69834000-69835400	Enhancers	Colonic Mucosa	Colon
44	chr3:69834000-69835400	Flanking Active TSS	A549	lung
45	chr3:69834000-69835400	Enhancers	NH-A	brain
46	chr3:69834000-69835600	Enhancers	Left Ventricle	heart
47	chr3:69834000-69835600	Enhancers	Pancreas	Pancrea
48	chr3:69834000-69835600	Enhancers	Right Ventricle	heart
49	chr3:69834000-69836400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:69834000-69836400	Enhancers	Right Atrium	heart

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