Variant report

Variant	rs4323189
Chromosome Location	chr5:60614586-60614587
allele	A/T
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10044518	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10044575	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12188621	1.00[CHB][hapmap]
rs12188882	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs73105363	0.90[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	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:58 , 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	chr5:60607800-60614600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:60608800-60615400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:60610000-60618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:60610200-60614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:60610200-60615000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:60610400-60614600	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:60610400-60614600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:60610400-60614800	Weak transcription	Small Intestine	intestine
10	chr5:60610400-60615000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:60610400-60615000	Weak transcription	Stomach Mucosa	stomach
12	chr5:60610400-60615400	Weak transcription	Placenta	Placenta
13	chr5:60610800-60615000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:60610800-60618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:60611000-60614800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:60611000-60615200	Weak transcription	NHEK	skin
17	chr5:60611000-60615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:60611200-60618200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:60611400-60615000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:60611400-60618200	Weak transcription	NH-A	brain
21	chr5:60611400-60618800	Weak transcription	A549	lung
22	chr5:60611800-60615400	Weak transcription	NHLF	lung
23	chr5:60611800-60618400	Weak transcription	HSMM	muscle
24	chr5:60613000-60618600	Weak transcription	Aorta	Aorta
25	chr5:60613400-60615200	Enhancers	Brain Anterior Caudate	brain
26	chr5:60613400-60616400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:60613400-60616400	Enhancers	Brain Substantia Nigra	brain
28	chr5:60613400-60621000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:60613800-60615200	Enhancers	HUVEC	blood vessel
30	chr5:60614000-60614600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:60614000-60614600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:60614000-60614800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:60614000-60614800	Enhancers	Osteobl	bone
34	chr5:60614000-60615000	Enhancers	Brain Hippocampus Middle	brain
35	chr5:60614000-60615000	Enhancers	Lung	lung
36	chr5:60614000-60615200	Enhancers	Adipose Nuclei	Adipose
37	chr5:60614000-60615200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:60614000-60615400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:60614000-60615600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:60614000-60615600	Enhancers	NHDF-Ad	bronchial
41	chr5:60614200-60614600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:60614200-60615200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:60614200-60615200	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:60614200-60615400	Weak transcription	Left Ventricle	heart
45	chr5:60614200-60615400	Weak transcription	Spleen	Spleen
46	chr5:60614200-60615800	Weak transcription	Right Atrium	heart
47	chr5:60614200-60617000	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:60614200-60617400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr5:60614200-60617600	Enhancers	Fetal Lung	lung
50	chr5:60614400-60615000	Enhancers	Primary B cells from cord blood	blood

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