Variant report

Variant	rs11944147
Chromosome Location	chr4:141856307-141856308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1001487	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11730659	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1346056	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364877	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425426	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17424664	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs1895756	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321685	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321686	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321687	0.91[EUR][1000 genomes]
rs35486006	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956338	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs6537023	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857782	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141848200-141856400	Weak transcription	NH-A	brain
2	chr4:141848200-141860600	Weak transcription	Aorta	Aorta
3	chr4:141850000-141857400	Enhancers	Colon Smooth Muscle	Colon
4	chr4:141851400-141857600	Enhancers	Fetal Heart	heart
5	chr4:141851600-141857600	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:141852000-141863400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:141853800-141856400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:141854000-141859400	Weak transcription	Fetal Brain Female	brain
9	chr4:141854200-141859600	Weak transcription	Right Ventricle	heart
10	chr4:141855200-141856800	Enhancers	Fetal Lung	lung
11	chr4:141855200-141857200	Enhancers	Fetal Muscle Leg	muscle
12	chr4:141855200-141857400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:141855200-141857600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:141855400-141856600	Enhancers	HSMMtube	muscle
15	chr4:141855400-141856800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:141855400-141857400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:141855600-141856800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:141855600-141867600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:141855800-141856800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:141855800-141856800	Enhancers	Osteobl	bone
21	chr4:141855800-141857000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:141855800-141857600	Enhancers	Adipose Nuclei	Adipose
23	chr4:141856000-141856400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:141856000-141856800	Active TSS	Stomach Smooth Muscle	stomach
25	chr4:141856000-141859600	Weak transcription	Fetal Stomach	stomach
26	chr4:141856000-141859600	Weak transcription	Left Ventricle	heart
27	chr4:141856000-141861000	Weak transcription	Psoas Muscle	Psoas
28	chr4:141856000-141863400	Weak transcription	Ovary	ovary
29	chr4:141856000-141863400	Weak transcription	Right Atrium	heart
30	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
31	chr4:141856200-141856800	Enhancers	Fetal Brain Male	brain
32	chr4:141856200-141857000	Enhancers	Muscle Satellite Cultured Cells	--

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