Variant report

Variant	rs61393887
Chromosome Location	chr4:119633750-119633751
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	chr4:119618502..119620267-chr4:119631410..119633788,2	K562	blood:
2	chr4:119626579..119629053-chr4:119632251..119635031,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55712195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56683591	1.00[EUR][1000 genomes]
rs59168173	1.00[EUR][1000 genomes]
rs72905464	1.00[EUR][1000 genomes]
rs72907289	1.00[EUR][1000 genomes]
rs7681126	1.00[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
6	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
8	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:119609000-119634800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:119609000-119635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:119609000-119635000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:119609000-119636000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:119609200-119634400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr4:119609200-119634800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:119609200-119635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:119609200-119635600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:119609200-119635800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:119609200-119636200	Strong transcription	Adipose Nuclei	Adipose
22	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
23	chr4:119609400-119635600	Strong transcription	Dnd41	blood
24	chr4:119613000-119634400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:119621800-119634800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:119622000-119635800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:119623600-119635600	Strong transcription	Primary B cells from cord blood	blood
29	chr4:119624800-119636000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:119625400-119634200	Strong transcription	Fetal Intestine Large	intestine
31	chr4:119625400-119634600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:119625400-119636000	Strong transcription	Liver	Liver
33	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
34	chr4:119626600-119646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:119626600-119648000	Weak transcription	Psoas Muscle	Psoas
36	chr4:119626800-119642200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:119626800-119644800	Weak transcription	Aorta	Aorta
38	chr4:119627200-119645000	Weak transcription	Spleen	Spleen
39	chr4:119627400-119645200	Weak transcription	Gastric	stomach
40	chr4:119627400-119645600	Weak transcription	Pancreas	Pancrea
41	chr4:119627400-119648600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:119627800-119642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:119627800-119646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:119627800-119648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:119628000-119634000	Weak transcription	Brain Angular Gyrus	brain
46	chr4:119628000-119639600	Weak transcription	NHEK	skin
47	chr4:119628000-119640800	Weak transcription	Fetal Brain Male	brain
48	chr4:119628000-119646400	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:119628000-119647000	Weak transcription	Brain Substantia Nigra	brain
50	chr4:119628000-119659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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