Variant report

Variant	rs2321685
Chromosome Location	chr4:141859666-141859667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:141858527..141861200-chr4:141868423..141870294,2	K562	blood:

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

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

rs_ID	r²[population]
rs1001487	0.91[EUR][1000 genomes]
rs11730659	0.93[EUR][1000 genomes]
rs11944147	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364877	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17424664	0.89[EUR][1000 genomes]
rs1895756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321686	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321687	0.91[EUR][1000 genomes]
rs35486006	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4956338	0.83[EUR][1000 genomes]
rs6537023	0.93[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141848200-141860600	Weak transcription	Aorta	Aorta
2	chr4:141852000-141863400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:141855600-141867600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:141856000-141861000	Weak transcription	Psoas Muscle	Psoas
5	chr4:141856000-141863400	Weak transcription	Ovary	ovary
6	chr4:141856000-141863400	Weak transcription	Right Atrium	heart
7	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
8	chr4:141856600-141864000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:141857200-141860000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:141857400-141861000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:141857600-141864800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:141858200-141862000	Enhancers	Colon Smooth Muscle	Colon
13	chr4:141858400-141861400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:141858600-141860400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:141858600-141863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:141859000-141859800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:141859000-141859800	Enhancers	NHLF	lung
18	chr4:141859000-141860200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:141859000-141860200	Enhancers	NH-A	brain
20	chr4:141859000-141860400	Enhancers	HSMM	muscle
21	chr4:141859000-141861400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr4:141859000-141861600	Enhancers	HSMMtube	muscle
23	chr4:141859000-141861800	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:141859200-141859800	Enhancers	Fetal Lung	lung
25	chr4:141859200-141860200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:141859200-141861400	Enhancers	Fetal Brain Male	brain
27	chr4:141859200-141861400	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:141859400-141860000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:141859400-141860000	Enhancers	Fetal Muscle Leg	muscle
30	chr4:141859400-141860200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:141859400-141861400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:141859400-141861400	Enhancers	NHDF-Ad	bronchial
33	chr4:141859400-141862000	Enhancers	Fetal Brain Female	brain
34	chr4:141859400-141864800	Enhancers	Osteobl	bone
35	chr4:141859400-141866200	Enhancers	Fetal Heart	heart
36	chr4:141859600-141860000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:141859600-141860000	Enhancers	Left Ventricle	heart
38	chr4:141859600-141860000	Enhancers	Right Ventricle	heart
39	chr4:141859600-141860200	Enhancers	Fetal Stomach	stomach
40	chr4:141859600-141861200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:141859600-141861400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:141859600-141861400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr4:141859600-141868800	Weak transcription	A549	lung

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