Variant report

Variant	rs11573048
Chromosome Location	chr4:57947394-57947395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10516161	1.00[JPT][hapmap]
rs11573056	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11573059	1.00[ASN][1000 genomes]
rs17087484	1.00[JPT][hapmap]
rs28699131	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35281174	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242642	0.97[EUR][1000 genomes]
rs73242645	0.97[EUR][1000 genomes]
rs73242650	0.94[EUR][1000 genomes]
rs73242656	0.87[EUR][1000 genomes]
rs73242657	0.87[EUR][1000 genomes]
rs73242663	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7356193	1.00[JPT][hapmap]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 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	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
2	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57939800-57949800	Enhancers	HMEC	breast
8	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
10	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:57943800-57948600	Enhancers	HSMM	muscle
12	chr4:57943800-57950200	Enhancers	NHLF	lung
13	chr4:57944000-57948200	Enhancers	Fetal Lung	lung
14	chr4:57944000-57948400	Enhancers	Fetal Stomach	stomach
15	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
16	chr4:57944600-57947400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:57944800-57947800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:57944800-57950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:57945000-57948200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:57945000-57950000	Enhancers	NHDF-Ad	bronchial
21	chr4:57945200-57958000	Weak transcription	Gastric	stomach
22	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
23	chr4:57945400-57948200	Enhancers	Fetal Heart	heart
24	chr4:57945400-57948400	Enhancers	HepG2	liver
25	chr4:57945400-57948600	Enhancers	Brain Hippocampus Middle	brain
26	chr4:57945400-57948800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:57945400-57950000	Enhancers	NHEK	skin
28	chr4:57945600-57948400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:57945600-57948600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:57945600-57948600	Enhancers	Colon Smooth Muscle	Colon
31	chr4:57945600-57948800	Enhancers	Fetal Kidney	kidney
32	chr4:57945800-57948000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:57945800-57948000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:57945800-57948600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:57946000-57948400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:57946000-57950000	Enhancers	Left Ventricle	heart
37	chr4:57946200-57947400	Enhancers	A549	lung
38	chr4:57946200-57947600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:57946200-57947800	Enhancers	Lung	lung
40	chr4:57946200-57948200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:57946200-57948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:57946200-57949200	Enhancers	Right Atrium	heart
43	chr4:57946400-57948200	Weak transcription	Brain Anterior Caudate	brain
44	chr4:57946400-57948400	Weak transcription	Fetal Intestine Small	intestine
45	chr4:57946600-57948400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:57946600-57949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:57946600-57950800	Genic enhancers	NH-A	brain
48	chr4:57946800-57947400	Enhancers	Placenta	Placenta
49	chr4:57946800-57947800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:57946800-57948200	Enhancers	Right Ventricle	heart

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