Variant report

Variant	rs9675374
Chromosome Location	chr18:29409169-29409170
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	chr18:29408804..29411024-chr18:29521543..29524021,2	K562	blood:
4	chr18:29402476..29405464-chr18:29407548..29409258,2	K562	blood:

Variant related genes	Relation type
ENSG00000263823	Chromatin interaction
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6506942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226494	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7227330	1.00[AMR][1000 genomes]
rs7228390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7234585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7234891	1.00[AFR][1000 genomes]
rs7238380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965789	1.00[AMR][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:121 , 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	chr18:29399800-29409400	Weak transcription	HSMMtube	muscle
3	chr18:29400200-29415600	Weak transcription	Brain Angular Gyrus	brain
4	chr18:29401000-29409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:29401800-29409400	Weak transcription	HUVEC	blood vessel
6	chr18:29402000-29409200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr18:29402000-29409400	Weak transcription	Fetal Lung	lung
8	chr18:29402000-29415400	Weak transcription	Right Ventricle	heart
9	chr18:29402200-29409200	Weak transcription	HepG2	liver
10	chr18:29402200-29409400	Weak transcription	Gastric	stomach
11	chr18:29402200-29414600	Weak transcription	Fetal Heart	heart
12	chr18:29402200-29417200	Weak transcription	Pancreas	Pancrea
13	chr18:29402400-29415400	Weak transcription	Ovary	ovary
14	chr18:29402800-29409400	Weak transcription	Lung	lung
15	chr18:29403800-29409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:29405200-29413600	Weak transcription	Fetal Stomach	stomach
17	chr18:29405400-29415200	Weak transcription	Small Intestine	intestine
18	chr18:29405600-29409400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:29405600-29412600	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:29405600-29414800	Weak transcription	NH-A	brain
21	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:29406000-29409400	Weak transcription	Spleen	Spleen
23	chr18:29406000-29417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
25	chr18:29406600-29409400	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:29406600-29415800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:29406800-29410800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:29406800-29415200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr18:29406800-29431600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr18:29407000-29409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr18:29407200-29409400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr18:29407200-29409400	Weak transcription	Colonic Mucosa	Colon
33	chr18:29407200-29409400	Weak transcription	NHEK	skin
34	chr18:29407200-29411000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:29407200-29411400	Strong transcription	Primary T cells from cord blood	blood
36	chr18:29407200-29414400	Weak transcription	Osteobl	bone
37	chr18:29407200-29415400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr18:29407400-29410400	Weak transcription	Hela-S3	cervix
39	chr18:29407400-29411000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:29407400-29415400	Weak transcription	Fetal Kidney	kidney
41	chr18:29407400-29427400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr18:29407400-29429800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr18:29407400-29432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:29407600-29409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:29407600-29409200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr18:29407600-29411000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr18:29407600-29413600	Weak transcription	Fetal Intestine Small	intestine
48	chr18:29407800-29409200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:29407800-29409200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr18:29407800-29409400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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