Variant report

Variant	rs1815821
Chromosome Location	chr18:29408336-29408337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29407667..29410510-chr18:29494386..29496036,2	K562	blood:
2	chr18:29403964..29405650-chr18:29407581..29409258,2	K562	blood:
3	chr18:29402476..29405464-chr18:29407548..29409258,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11081728	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11660777	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12326860	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2276145	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56046214	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56260330	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62093865	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:29399600-29409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:29399800-29408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:29399800-29409400	Weak transcription	HSMMtube	muscle
5	chr18:29400200-29415600	Weak transcription	Brain Angular Gyrus	brain
6	chr18:29401000-29409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr18:29401600-29408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:29401800-29409000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr18:29401800-29409400	Weak transcription	HUVEC	blood vessel
10	chr18:29402000-29408600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:29402000-29408600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:29402000-29408800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr18:29402000-29408800	Weak transcription	Left Ventricle	heart
14	chr18:29402000-29409200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr18:29402000-29409400	Weak transcription	Fetal Lung	lung
16	chr18:29402000-29415400	Weak transcription	Right Ventricle	heart
17	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:29402200-29408800	Weak transcription	Adipose Nuclei	Adipose
20	chr18:29402200-29408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:29402200-29408800	Weak transcription	Fetal Intestine Large	intestine
22	chr18:29402200-29409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:29402200-29409200	Weak transcription	HepG2	liver
24	chr18:29402200-29409400	Weak transcription	Gastric	stomach
25	chr18:29402200-29414600	Weak transcription	Fetal Heart	heart
26	chr18:29402200-29417200	Weak transcription	Pancreas	Pancrea
27	chr18:29402400-29408800	Weak transcription	K562	blood
28	chr18:29402400-29415400	Weak transcription	Ovary	ovary
29	chr18:29402800-29409400	Weak transcription	Lung	lung
30	chr18:29403600-29408800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:29403800-29409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:29405200-29413600	Weak transcription	Fetal Stomach	stomach
33	chr18:29405400-29408800	Weak transcription	Liver	Liver
34	chr18:29405400-29415200	Weak transcription	Small Intestine	intestine
35	chr18:29405600-29409400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:29405600-29412600	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:29405600-29414800	Weak transcription	NH-A	brain
38	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:29405800-29408800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:29406000-29408800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr18:29406000-29409400	Weak transcription	Spleen	Spleen
42	chr18:29406000-29417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:29406200-29408800	Weak transcription	Fetal Thymus	thymus
44	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
45	chr18:29406400-29408600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:29406400-29409000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:29406600-29408800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:29406600-29408800	Weak transcription	HSMM	muscle
49	chr18:29406600-29409400	Weak transcription	Fetal Muscle Leg	muscle
50	chr18:29406600-29415800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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