Variant report

Variant	rs586931
Chromosome Location	chr18:8384848-8384849
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8383086..8385135-chr18:8394319..8396529,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs607017	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs609949	1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap]
rs628891	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs630525	0.83[CHB][hapmap]
rs656068	0.85[CEU][hapmap];0.90[CHD][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs678682	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs8082894	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
2	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:8367800-8398600	Weak transcription	NHLF	lung
4	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
7	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
12	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:8377600-8386800	Weak transcription	NHDF-Ad	bronchial
16	chr18:8378600-8398600	Weak transcription	Hela-S3	cervix
17	chr18:8378800-8396600	Weak transcription	HMEC	breast
18	chr18:8378800-8397000	Weak transcription	NHEK	skin
19	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:8379200-8396000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:8379200-8396800	Weak transcription	Primary T cells from cord blood	blood
22	chr18:8379400-8385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:8379400-8387000	Weak transcription	Fetal Intestine Small	intestine
24	chr18:8379400-8387800	Weak transcription	Fetal Brain Female	brain
25	chr18:8379400-8394200	Strong transcription	Adipose Nuclei	Adipose
26	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
28	chr18:8380000-8394200	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:8381000-8385000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:8381000-8385000	Weak transcription	Gastric	stomach
31	chr18:8381000-8387200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:8381000-8405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:8382200-8387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr18:8382400-8387000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:8382400-8387600	Weak transcription	NH-A	brain
36	chr18:8382400-8409400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr18:8382600-8387600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:8382600-8394200	Weak transcription	Brain Substantia Nigra	brain
39	chr18:8382600-8406400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr18:8382600-8407200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr18:8382800-8387000	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:8382800-8387200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:8382800-8387200	Weak transcription	Brain Angular Gyrus	brain
44	chr18:8382800-8389600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:8383000-8386400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:8383000-8387600	Weak transcription	Fetal Brain Male	brain
47	chr18:8383000-8397600	Weak transcription	HSMMtube	muscle
48	chr18:8383200-8387000	Weak transcription	Aorta	Aorta
49	chr18:8383600-8388800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr18:8383600-8389800	Strong transcription	Fetal Stomach	stomach

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