Variant report

Variant	rs56934019
Chromosome Location	chr4:82390827-82390828
allele	-/CACA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10440362	0.81[EUR][1000 genomes]
rs13353696	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28408727	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28410139	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57077180	0.81[AMR][1000 genomes]
rs60006878	0.81[AMR][1000 genomes]
rs6846142	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72884907	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73829600	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7693787	0.84[AMR][1000 genomes];0.88[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1261741	chr4:82390825-82390827	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:82369600-82391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:82377800-82391000	Weak transcription	Dnd41	blood
5	chr4:82379000-82391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:82380600-82391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:82380600-82391200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:82380600-82391200	Weak transcription	Placenta	Placenta
9	chr4:82383200-82391000	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:82387000-82391000	Weak transcription	Colonic Mucosa	Colon
11	chr4:82387000-82391400	Weak transcription	Psoas Muscle	Psoas
12	chr4:82387400-82391000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:82387600-82391000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:82388400-82391000	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:82388400-82391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:82388600-82391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:82388800-82391200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:82388800-82391600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:82389400-82391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:82389600-82391000	Enhancers	Brain Substantia Nigra	brain
21	chr4:82389800-82391000	Enhancers	Fetal Intestine Large	intestine
22	chr4:82389800-82391400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:82389800-82391400	Active TSS	Fetal Brain Female	brain
24	chr4:82389800-82391400	Enhancers	Small Intestine	intestine
25	chr4:82389800-82391400	Enhancers	NHEK	skin
26	chr4:82389800-82393800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:82390000-82391000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:82390000-82391000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:82390000-82391200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:82390000-82391200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:82390000-82391400	Active TSS	Right Atrium	heart
32	chr4:82390000-82391600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:82390200-82391000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:82390200-82391000	Weak transcription	Brain Germinal Matrix	brain
35	chr4:82390200-82391400	Active TSS	Brain Anterior Caudate	brain
36	chr4:82390200-82392600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:82390400-82391000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr4:82390400-82391000	Enhancers	Fetal Kidney	kidney
39	chr4:82390400-82391200	Enhancers	Gastric	stomach
40	chr4:82390400-82391400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:82390400-82393600	Active TSS	Lung	lung
42	chr4:82390600-82391000	Active TSS	Primary B cells from cord blood	blood
43	chr4:82390600-82391000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:82390600-82391000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr4:82390600-82391000	Active TSS	Adipose Nuclei	Adipose
46	chr4:82390600-82391000	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:82390600-82391000	Weak transcription	Stomach Mucosa	stomach
48	chr4:82390600-82391000	Enhancers	Thymus	Thymus
49	chr4:82390600-82391000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
50	chr4:82390600-82391400	Weak transcription	Left Ventricle	heart

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