Variant report

Variant	rs57638144
Chromosome Location	chr18:29838995-29838996
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55780220	1.00[AFR][1000 genomes]
rs73956843	1.00[AFR][1000 genomes]
rs73956844	1.00[AFR][1000 genomes]
rs73956847	1.00[AFR][1000 genomes]
rs73956849	1.00[AFR][1000 genomes]
rs73956850	1.00[AFR][1000 genomes]
rs73956851	1.00[AFR][1000 genomes]
rs73956852	0.86[AFR][1000 genomes]
rs73956854	0.86[AFR][1000 genomes]
rs73956856	1.00[AFR][1000 genomes]
rs73956857	1.00[AFR][1000 genomes]
rs73956858	1.00[AFR][1000 genomes]
rs73956859	1.00[AFR][1000 genomes]
rs73956860	1.00[AFR][1000 genomes]
rs73956862	1.00[AFR][1000 genomes]
rs73956864	0.93[AFR][1000 genomes]
rs73956866	1.00[AFR][1000 genomes]
rs73956868	1.00[AFR][1000 genomes]
rs73956869	1.00[AFR][1000 genomes]
rs73956872	1.00[AFR][1000 genomes]
rs73956873	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056007	chr18:29711974-29899564	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv528846	chr18:29832147-29890042	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29823800-29848000	Weak transcription	Aorta	Aorta
2	chr18:29831400-29847600	Weak transcription	Pancreas	Pancrea
3	chr18:29835200-29861600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:29836000-29839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:29836200-29839200	Enhancers	Primary hematopoietic stem cells	blood
6	chr18:29836400-29839200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr18:29836600-29839000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr18:29837000-29840200	Enhancers	Fetal Intestine Large	intestine
9	chr18:29837200-29840000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr18:29837400-29839800	Enhancers	Fetal Intestine Small	intestine
11	chr18:29837400-29847800	Weak transcription	Right Ventricle	heart
12	chr18:29837400-29867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:29837600-29839000	Enhancers	Duodenum Mucosa	Duodenum
14	chr18:29837600-29848200	Weak transcription	Colonic Mucosa	Colon
15	chr18:29838000-29839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:29838000-29847600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:29838000-29848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:29838200-29839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:29838400-29847600	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:29838600-29839200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr18:29838600-29843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:29838600-29848000	Weak transcription	HepG2	liver
23	chr18:29838600-29851400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:29838600-29851600	Weak transcription	Stomach Mucosa	stomach
25	chr18:29838800-29839000	Active TSS	GM12878-XiMat	blood
26	chr18:29838800-29841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:29838800-29846800	Weak transcription	Liver	Liver
28	chr18:29838800-29846800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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