Variant report

Variant	rs1973592
Chromosome Location	chr5:126188263-126188264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126187172..126189769-chr5:126406554..126408895,2	K562	blood:
2	chr5:126180771..126183524-chr5:126185712..126188380,2	K562	blood:
3	chr5:126187035..126188826-chr5:126364717..126367008,2	K562	blood:
4	chr5:126187764..126191404-chr5:126191529..126194421,4	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000164241	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1110322	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740069	0.80[ASN][1000 genomes]
rs12656316	0.84[ASN][1000 genomes]
rs4836299	0.98[ASN][1000 genomes]
rs62392872	0.88[ASN][1000 genomes]
rs62392876	0.87[ASN][1000 genomes]
rs6869763	0.80[ASN][1000 genomes]
rs72663350	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs959573	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:126181800-126189200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
9	chr5:126183600-126188600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
12	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:126185400-126189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:126185400-126190800	Weak transcription	Stomach Mucosa	stomach
20	chr5:126186200-126189000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:126186200-126189400	Enhancers	Fetal Brain Male	brain
22	chr5:126186400-126188400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:126186400-126188800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:126186400-126188800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:126186400-126189000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:126186400-126189000	Enhancers	Fetal Muscle Leg	muscle
27	chr5:126186400-126189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:126186400-126189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:126186600-126188400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:126186600-126188800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:126186600-126188800	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:126186600-126189000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:126186600-126189000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:126186600-126189200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr5:126186600-126189200	Enhancers	Fetal Stomach	stomach
36	chr5:126186600-126189200	Enhancers	Fetal Thymus	thymus
37	chr5:126186600-126189400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:126186600-126189400	Enhancers	Right Atrium	heart
39	chr5:126186800-126188800	Enhancers	NHLF	lung
40	chr5:126186800-126189000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:126186800-126189800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:126187000-126188400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:126187000-126188600	Enhancers	NH-A	brain
44	chr5:126187000-126189000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:126187000-126189200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr5:126187200-126188800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:126187200-126189200	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:126187200-126189200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:126187400-126188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:126187400-126188400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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