Variant report

Variant	rs609224
Chromosome Location	chr18:331546-331547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:330383..333322-chr18:336315..339343,3	K562	blood:
2	chr18:331361..333834-chr18:339514..341220,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17451399	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17548313	0.81[EUR][1000 genomes]
rs2305026	0.87[EUR][1000 genomes]
rs55640219	0.81[EUR][1000 genomes]
rs55897009	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56124500	0.81[EUR][1000 genomes]
rs56312846	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364297	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089625	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089630	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62089638	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv543530	chr18:112528-932674	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1067102	chr18:112528-984688	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv543531	chr18:112528-984688	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057029	chr18:141491-356238	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1066995	chr18:141491-415027	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1064735	chr18:141491-483651	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1062680	chr18:141491-549166	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1067218	chr18:141491-603796	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv543544	chr18:141491-675519	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv1064998	chr18:141491-1095845	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
11	nsv543545	chr18:141491-1095845	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
12	nsv532441	chr18:148763-1108997	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
13	nsv530373	chr18:148963-533693	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv948987	chr18:220071-461872	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	nsv948735	chr18:220071-615394	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
16	nsv534315	chr18:225061-776966	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
17	nsv909287	chr18:225964-677240	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv1066129	chr18:258717-369148	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv932642	chr18:287678-901106	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
20	nsv457977	chr18:289153-407958	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
21	nsv576235	chr18:289153-407958	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	nsv1061990	chr18:296275-894219	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
23	nsv576236	chr18:319176-794273	Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:314400-335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:317600-346200	Weak transcription	Fetal Brain Male	brain
3	chr18:317800-348600	Weak transcription	Gastric	stomach
4	chr18:318000-345800	Weak transcription	Fetal Intestine Small	intestine
5	chr18:320600-332000	Weak transcription	Fetal Intestine Large	intestine
6	chr18:322800-332600	Weak transcription	Right Ventricle	heart
7	chr18:323200-345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:324400-332400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:326000-335000	Weak transcription	Aorta	Aorta
10	chr18:326800-331600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:328200-331800	Strong transcription	Fetal Lung	lung
12	chr18:328800-332200	Weak transcription	Right Atrium	heart
13	chr18:330200-334200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:330400-332800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:330600-332400	Enhancers	Primary hematopoietic stem cells	blood
16	chr18:330600-332800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr18:331000-332800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr18:331200-331600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:331200-331600	Genic enhancers	Fetal Muscle Leg	muscle
20	chr18:331200-331800	Enhancers	Lung	lung
21	chr18:331200-331800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr18:331200-332000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr18:331200-332400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:331200-332600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr18:331200-332800	Enhancers	HUVEC	blood vessel
26	chr18:331200-333600	Enhancers	Adipose Nuclei	Adipose
27	chr18:331200-333600	Enhancers	Brain Hippocampus Middle	brain
28	chr18:331200-333600	Enhancers	Colon Smooth Muscle	Colon
29	chr18:331200-333600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr18:331200-333800	Enhancers	Brain Substantia Nigra	brain
31	chr18:331200-333800	Enhancers	Rectal Smooth Muscle	rectum
32	chr18:331200-334000	Enhancers	Brain Anterior Caudate	brain
33	chr18:331200-334200	Enhancers	Left Ventricle	heart
34	chr18:331400-331800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:331400-331800	Flanking Active TSS	Osteobl	bone
36	chr18:331400-332000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr18:331400-332400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:331400-332600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:331400-333400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:331400-333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:331400-333400	Enhancers	Duodenum Mucosa	Duodenum
42	chr18:331400-333600	Enhancers	Brain Cingulate Gyrus	brain
43	chr18:331400-333600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr18:331400-334000	Enhancers	Placenta	Placenta
45	chr18:331400-334200	Genic enhancers	Fetal Stomach	stomach
46	chr18:331400-334200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr18:331400-334200	Genic enhancers	NHDF-Ad	bronchial

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