Variant report

Variant	rs4132385
Chromosome Location	chr5:60614879-60614880
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60609834..60612374-chr5:60612817..60615641,2	K562	blood:
2	chr5:60609834..60612725-chr5:60612817..60615641,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13169711	0.80[AMR][1000 genomes]
rs13170135	0.80[AMR][1000 genomes]
rs4235486	0.83[ASN][1000 genomes]
rs4352559	0.80[EUR][1000 genomes]
rs4391122	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4421060	0.83[ASN][1000 genomes]
rs4546329	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4583848	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4604142	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6449525	0.81[ASN][1000 genomes]
rs6449526	0.81[ASN][1000 genomes]
rs6449527	0.81[ASN][1000 genomes]
rs6449528	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6449529	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6860599	0.81[ASN][1000 genomes]
rs6867278	0.81[ASN][1000 genomes]
rs6890684	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7701440	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7724551	0.81[AFR][1000 genomes];0.81[AMR][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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60600800-60615800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:60608800-60615400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:60610000-60618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:60610200-60615000	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:60610400-60615000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:60610400-60615000	Weak transcription	Stomach Mucosa	stomach
7	chr5:60610400-60615400	Weak transcription	Placenta	Placenta
8	chr5:60610800-60615000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:60610800-60618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:60611000-60615200	Weak transcription	NHEK	skin
11	chr5:60611000-60615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:60611200-60618200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:60611400-60615000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:60611400-60618200	Weak transcription	NH-A	brain
15	chr5:60611400-60618800	Weak transcription	A549	lung
16	chr5:60611800-60615400	Weak transcription	NHLF	lung
17	chr5:60611800-60618400	Weak transcription	HSMM	muscle
18	chr5:60613000-60618600	Weak transcription	Aorta	Aorta
19	chr5:60613400-60615200	Enhancers	Brain Anterior Caudate	brain
20	chr5:60613400-60616400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:60613400-60616400	Enhancers	Brain Substantia Nigra	brain
22	chr5:60613400-60621000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:60613800-60615200	Enhancers	HUVEC	blood vessel
24	chr5:60614000-60615000	Enhancers	Brain Hippocampus Middle	brain
25	chr5:60614000-60615000	Enhancers	Lung	lung
26	chr5:60614000-60615200	Enhancers	Adipose Nuclei	Adipose
27	chr5:60614000-60615200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:60614000-60615400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:60614000-60615600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:60614000-60615600	Enhancers	NHDF-Ad	bronchial
31	chr5:60614200-60615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:60614200-60615200	Enhancers	Primary hematopoietic stem cells	blood
33	chr5:60614200-60615400	Weak transcription	Left Ventricle	heart
34	chr5:60614200-60615400	Weak transcription	Spleen	Spleen
35	chr5:60614200-60615800	Weak transcription	Right Atrium	heart
36	chr5:60614200-60617000	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:60614200-60617400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:60614200-60617600	Enhancers	Fetal Lung	lung
39	chr5:60614400-60615000	Enhancers	Primary B cells from cord blood	blood
40	chr5:60614400-60615000	Enhancers	GM12878-XiMat	blood
41	chr5:60614400-60615200	Weak transcription	Brain Angular Gyrus	brain
42	chr5:60614400-60615200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr5:60614400-60615200	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:60614400-60616200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:60614400-60616200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:60614400-60616200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:60614400-60616200	Enhancers	Fetal Brain Male	brain
48	chr5:60614600-60615000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:60614600-60615200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr5:60614600-60615400	Enhancers	Colon Smooth Muscle	Colon

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