Variant report

Variant	rs62337489
Chromosome Location	chr4:144262493-144262494
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	chr4:144261573..144263488-chr4:144322361..144324414,2	K562	blood:
2	chr4:144254658..144259448-chr4:144261105..144264742,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10155329	1.00[AMR][1000 genomes]
rs10598	1.00[AMR][1000 genomes]
rs2323011	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28989215	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28989221	0.89[EUR][1000 genomes]
rs28989224	0.89[EUR][1000 genomes]
rs28989225	0.89[EUR][1000 genomes]
rs28989230	0.89[EUR][1000 genomes]
rs62330292	0.83[AMR][1000 genomes]
rs62337486	0.93[EUR][1000 genomes]
rs62337511	1.00[EUR][1000 genomes]
rs62337512	0.90[EUR][1000 genomes]
rs62337513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337515	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337516	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337517	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337518	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337519	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337524	0.89[EUR][1000 genomes]
rs62337525	0.89[EUR][1000 genomes]
rs62337526	0.89[EUR][1000 genomes]
rs62337527	0.89[EUR][1000 genomes]
rs62337528	0.89[EUR][1000 genomes]
rs62337529	0.89[EUR][1000 genomes]
rs62337530	0.89[EUR][1000 genomes]
rs62337531	0.89[EUR][1000 genomes]
rs62337532	0.89[EUR][1000 genomes]
rs6828635	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs745164	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144259200-144262600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:144259200-144262600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:144259200-144262600	Weak transcription	Gastric	stomach
4	chr4:144259200-144262600	Weak transcription	Spleen	Spleen
5	chr4:144259200-144264000	Weak transcription	Small Intestine	intestine
6	chr4:144259200-144272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:144259400-144262600	Weak transcription	Esophagus	oesophagus
8	chr4:144259400-144262600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:144259400-144262600	Weak transcription	Lung	lung
10	chr4:144259400-144265400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:144259400-144268600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:144259400-144272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:144259400-144272600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:144259600-144262600	Weak transcription	Fetal Thymus	thymus
15	chr4:144259600-144264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:144259600-144264200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:144259600-144264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:144259600-144265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:144259600-144276200	Weak transcription	Fetal Kidney	kidney
20	chr4:144259800-144262600	Weak transcription	Brain Germinal Matrix	brain
21	chr4:144259800-144264200	Weak transcription	HMEC	breast
22	chr4:144259800-144264600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:144259800-144264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:144259800-144264800	Weak transcription	Fetal Brain Female	brain
25	chr4:144259800-144265400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:144259800-144268600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:144260000-144262600	Weak transcription	Right Atrium	heart
28	chr4:144260000-144264400	Weak transcription	NHEK	skin
29	chr4:144260000-144267400	Weak transcription	Stomach Mucosa	stomach
30	chr4:144260000-144268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:144260000-144272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:144260200-144264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:144260200-144264600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:144260200-144268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:144260400-144263000	Enhancers	Psoas Muscle	Psoas
36	chr4:144260600-144262600	Weak transcription	Left Ventricle	heart
37	chr4:144260800-144262600	Weak transcription	Placenta	Placenta
38	chr4:144260800-144262600	Weak transcription	Pancreas	Pancrea
39	chr4:144261000-144262600	Weak transcription	Ovary	ovary
40	chr4:144261000-144264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:144261000-144264600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:144261000-144264600	Weak transcription	NHLF	lung
43	chr4:144261000-144265200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:144261000-144265600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:144261000-144266000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:144261000-144268600	Weak transcription	Primary B cells from cord blood	blood
47	chr4:144261200-144262600	Weak transcription	Colonic Mucosa	Colon
48	chr4:144261200-144262600	Enhancers	Colon Smooth Muscle	Colon
49	chr4:144261200-144262600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:144261200-144262600	Weak transcription	Fetal Intestine Large	intestine

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