Variant report

Variant	rs2412787
Chromosome Location	chr4:57953532-57953533
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	chr4:57947462..57949584-chr4:57951331..57953950,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10010274	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111626	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111627	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11936912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899085	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242005	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4309904	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6554414	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73242637	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663799	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
3	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
4	chr4:57945200-57958000	Weak transcription	Gastric	stomach
5	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
6	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
7	chr4:57948000-57955600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57948000-57955800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:57948400-57955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:57948400-57956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
12	chr4:57948600-57960400	Weak transcription	HSMM	muscle
13	chr4:57949800-57957200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:57950000-57954200	Weak transcription	Fetal Kidney	kidney
15	chr4:57950000-57955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:57950000-57955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:57950000-57957400	Weak transcription	Ovary	ovary
18	chr4:57950000-57958200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:57950000-57960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:57950000-57960400	Weak transcription	Right Atrium	heart
21	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:57950200-57953600	Weak transcription	Liver	Liver
23	chr4:57950200-57955800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:57950600-57954800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:57950800-57955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:57950800-57957600	Weak transcription	A549	lung
27	chr4:57950800-57960400	Weak transcription	NHLF	lung
28	chr4:57951000-57955400	Weak transcription	HUVEC	blood vessel
29	chr4:57951000-57955600	Strong transcription	Osteobl	bone
30	chr4:57951200-57956800	Weak transcription	HMEC	breast
31	chr4:57951400-57955800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:57951600-57953600	Enhancers	Fetal Heart	heart
33	chr4:57952000-57954000	Enhancers	Right Ventricle	heart
34	chr4:57952000-57958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:57952200-57957800	Weak transcription	GM12878-XiMat	blood
36	chr4:57952400-57955600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:57952400-57955800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:57952600-57955600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:57952600-57956000	Strong transcription	HSMMtube	muscle
40	chr4:57952800-57953600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:57952800-57955600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:57952800-57955600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:57953000-57955000	Strong transcription	NH-A	brain
44	chr4:57953000-57957600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:57953200-57953600	Enhancers	Colon Smooth Muscle	Colon
46	chr4:57953200-57955800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:57953400-57954000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:57953400-57955800	Weak transcription	Left Ventricle	heart
49	chr4:57953400-57955800	Weak transcription	NHEK	skin
50	chr4:57953400-57956800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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