Variant report

Variant	rs72976257
Chromosome Location	chr4:86854676-86854677
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	chr4:86853756..86855558-chr4:86856892..86859472,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17011217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17011232	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2060589	1.00[EUR][1000 genomes]
rs61758879	1.00[AMR][1000 genomes]
rs72976253	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976258	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72976260	0.87[AFR][1000 genomes]
rs72976268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
2	chr4:86851200-86863200	Weak transcription	Psoas Muscle	Psoas
3	chr4:86851400-86861600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:86851400-86865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:86851400-86874600	Weak transcription	HSMMtube	muscle
6	chr4:86851600-86858200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:86851600-86870000	Weak transcription	HSMM	muscle
8	chr4:86851600-86874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:86852200-86855400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:86853000-86855400	Enhancers	Liver	Liver
11	chr4:86853400-86854800	Enhancers	Fetal Thymus	thymus
12	chr4:86853600-86854800	Enhancers	Fetal Muscle Leg	muscle
13	chr4:86853600-86855000	Enhancers	NHDF-Ad	bronchial
14	chr4:86853800-86854800	Enhancers	Primary T cells from cord blood	blood
15	chr4:86853800-86854800	Enhancers	Small Intestine	intestine
16	chr4:86853800-86860000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86853800-86864400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:86854000-86854800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:86854000-86855000	Weak transcription	Stomach Mucosa	stomach
20	chr4:86854000-86867400	Weak transcription	Fetal Lung	lung
21	chr4:86854000-86874200	Weak transcription	Fetal Stomach	stomach
22	chr4:86854000-86893000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:86854200-86854800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:86854200-86854800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:86854200-86854800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:86854200-86854800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:86854200-86854800	Flanking Active TSS	Fetal Kidney	kidney
28	chr4:86854200-86855000	Enhancers	Right Atrium	heart
29	chr4:86854200-86855200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:86854200-86857000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:86854200-86859000	Weak transcription	Fetal Intestine Large	intestine
32	chr4:86854200-86859000	Weak transcription	Fetal Intestine Small	intestine
33	chr4:86854200-86859200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:86854200-86859200	Weak transcription	Aorta	Aorta
35	chr4:86854200-86860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:86854200-86860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:86854200-86860200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:86854200-86860200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:86854200-86863000	Weak transcription	HUVEC	blood vessel
40	chr4:86854200-86863200	Weak transcription	Pancreas	Pancrea
41	chr4:86854200-86880200	Weak transcription	Gastric	stomach
42	chr4:86854200-86893000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:86854200-86915800	Weak transcription	Left Ventricle	heart
44	chr4:86854400-86855000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:86854400-86855000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:86854400-86855600	Enhancers	Dnd41	blood
47	chr4:86854400-86858400	Weak transcription	A549	lung
48	chr4:86854400-86860800	Weak transcription	Adipose Nuclei	Adipose
49	chr4:86854600-86854800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:86854600-86854800	Active TSS	Pancreatic Islets	Pancreatic Islet

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