Variant report

Variant	rs476509
Chromosome Location	chr18:29404147-29404148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29403964..29405650-chr18:29407581..29409258,2	K562	blood:
2	chr18:29402476..29405464-chr18:29407548..29409258,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1030405	0.93[AFR][1000 genomes]
rs16962529	0.93[AFR][1000 genomes]
rs1876783	0.93[AFR][1000 genomes]
rs4570943	0.93[AFR][1000 genomes]
rs492777	0.93[AFR][1000 genomes]
rs520531	0.93[AFR][1000 genomes]
rs522046	0.93[AFR][1000 genomes]
rs551921	0.93[AFR][1000 genomes]
rs561556	0.86[AFR][1000 genomes]
rs589558	0.93[AFR][1000 genomes]
rs595195	0.86[AFR][1000 genomes]
rs610869	0.93[AFR][1000 genomes]
rs6506949	0.93[AFR][1000 genomes]
rs651501	0.93[AFR][1000 genomes]
rs665765	0.93[AFR][1000 genomes]
rs670689	0.93[AFR][1000 genomes]
rs673202	0.93[AFR][1000 genomes]
rs7229729	0.93[AFR][1000 genomes]
rs8089228	0.93[AFR][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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29392000-29405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29394400-29418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:29399400-29407800	Weak transcription	Placenta	Placenta
4	chr18:29399600-29409000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:29399800-29408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:29399800-29409400	Weak transcription	HSMMtube	muscle
7	chr18:29400000-29405000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:29400200-29405000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:29400200-29415600	Weak transcription	Brain Angular Gyrus	brain
10	chr18:29401000-29409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr18:29401600-29408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr18:29401800-29407400	Weak transcription	Fetal Intestine Small	intestine
13	chr18:29401800-29407800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:29401800-29409000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr18:29401800-29409400	Weak transcription	HUVEC	blood vessel
16	chr18:29402000-29405000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:29402000-29405000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:29402000-29405200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:29402000-29405200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:29402000-29406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:29402000-29406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:29402000-29407000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:29402000-29408600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:29402000-29408600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:29402000-29408800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr18:29402000-29408800	Weak transcription	Left Ventricle	heart
27	chr18:29402000-29409200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr18:29402000-29409400	Weak transcription	Fetal Lung	lung
29	chr18:29402000-29415400	Weak transcription	Right Ventricle	heart
30	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr18:29402200-29408600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:29402200-29408800	Weak transcription	Adipose Nuclei	Adipose
33	chr18:29402200-29408800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr18:29402200-29408800	Weak transcription	Fetal Intestine Large	intestine
35	chr18:29402200-29409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:29402200-29409200	Weak transcription	HepG2	liver
37	chr18:29402200-29409400	Weak transcription	Gastric	stomach
38	chr18:29402200-29414600	Weak transcription	Fetal Heart	heart
39	chr18:29402200-29417200	Weak transcription	Pancreas	Pancrea
40	chr18:29402400-29405800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:29402400-29408800	Weak transcription	K562	blood
42	chr18:29402400-29415400	Weak transcription	Ovary	ovary
43	chr18:29402800-29409400	Weak transcription	Lung	lung
44	chr18:29403600-29404200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:29403600-29408800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:29403800-29409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:29404000-29404800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr18:29404000-29405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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