Variant report

Variant	rs4639250
Chromosome Location	chr5:94816902-94816903
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	chr5:94815715..94817542-chr5:94820797..94823312,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12516085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12657120	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731829	0.96[ASN][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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
4	chr5:94794800-94817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:94795200-94826600	Weak transcription	NHEK	skin
6	chr5:94797000-94817000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:94797000-94819200	Weak transcription	HepG2	liver
8	chr5:94799200-94821600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:94802000-94821600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:94804200-94817800	Weak transcription	Fetal Heart	heart
12	chr5:94804600-94817000	Weak transcription	GM12878-XiMat	blood
13	chr5:94804600-94821600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:94804600-94823000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:94807800-94817000	Strong transcription	Primary B cells from cord blood	blood
16	chr5:94808000-94821600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:94808200-94821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:94808200-94822800	Weak transcription	Psoas Muscle	Psoas
19	chr5:94809000-94823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:94809800-94823000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr5:94810200-94823000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:94810200-94823000	Strong transcription	Dnd41	blood
23	chr5:94810200-94823000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:94810200-94823200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:94810200-94827400	Strong transcription	Fetal Thymus	thymus
26	chr5:94810600-94823000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:94810600-94823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:94810600-94823200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr5:94810600-94827600	Strong transcription	Placenta	Placenta
30	chr5:94810800-94821200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:94810800-94821600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:94810800-94823200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:94810800-94823200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:94811000-94822200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
36	chr5:94811200-94817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:94811200-94823000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:94811200-94835600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr5:94811800-94817400	Weak transcription	Osteobl	bone
40	chr5:94811800-94817600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:94811800-94821600	Weak transcription	Brain Angular Gyrus	brain
42	chr5:94811800-94821600	Weak transcription	Esophagus	oesophagus
43	chr5:94811800-94822400	Weak transcription	Colonic Mucosa	Colon
44	chr5:94812000-94817000	Weak transcription	Small Intestine	intestine
45	chr5:94812000-94818000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:94812000-94820000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:94812000-94820000	Weak transcription	Fetal Stomach	stomach
48	chr5:94812000-94820200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:94812000-94821000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:94812000-94821400	Weak transcription	Pancreas	Pancrea

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