Variant report

Variant	rs638664
Chromosome Location	chr18:29844710-29844711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr18:29844444-29844714	HepG2	liver:	n/a	n/a
2	MAFK	chr18:29844451-29844744	HepG2	liver:	n/a	n/a
3	KAP1	chr18:29844281-29845026	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29843865..29846147-chr18:30049369..30051018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222395	TF binding region
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs596653	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs609285	1.00[CHB][hapmap]
rs618862	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs624130	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.96[ASN][1000 genomes]
rs624171	0.96[ASN][1000 genomes]
rs635901	0.88[GIH][hapmap]
rs645526	0.81[GIH][hapmap]
rs646452	0.93[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs660959	0.99[ASN][1000 genomes]
rs668567	0.99[ASN][1000 genomes]
rs669116	0.81[GIH][hapmap]
rs674372	0.85[GIH][hapmap]
rs676968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs682459	0.99[ASN][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:41 , 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	chr18:29837400-29847800	Weak transcription	Right Ventricle	heart
5	chr18:29837400-29867200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:29837600-29848200	Weak transcription	Colonic Mucosa	Colon
7	chr18:29838000-29847600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:29838000-29848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:29838400-29847600	Weak transcription	Brain Hippocampus Middle	brain
10	chr18:29838600-29848000	Weak transcription	HepG2	liver
11	chr18:29838600-29851400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:29838600-29851600	Weak transcription	Stomach Mucosa	stomach
13	chr18:29838800-29846800	Weak transcription	Liver	Liver
14	chr18:29838800-29846800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:29839000-29847600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr18:29839000-29847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:29839200-29847600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr18:29839800-29871800	Weak transcription	HSMMtube	muscle
19	chr18:29840000-29847800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:29841000-29847800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:29842600-29847600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:29842800-29848000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:29843000-29867000	Weak transcription	Brain Angular Gyrus	brain
24	chr18:29843200-29844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:29843200-29845400	Weak transcription	Adipose Nuclei	Adipose
26	chr18:29843200-29847800	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:29843400-29847600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:29843400-29847800	Weak transcription	Brain Anterior Caudate	brain
29	chr18:29843400-29848000	Weak transcription	Ovary	ovary
30	chr18:29843600-29845000	Enhancers	Fetal Lung	lung
31	chr18:29843600-29847600	Weak transcription	Brain Substantia Nigra	brain
32	chr18:29844000-29847600	Weak transcription	Gastric	stomach
33	chr18:29844200-29844800	Enhancers	Fetal Kidney	kidney
34	chr18:29844200-29845200	Enhancers	Fetal Intestine Large	intestine
35	chr18:29844200-29847400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr18:29844200-29848600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:29844400-29844800	Enhancers	Fetal Heart	heart
38	chr18:29844400-29845000	Enhancers	Fetal Intestine Small	intestine
39	chr18:29844400-29847000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:29844600-29844800	Enhancers	Fetal Brain Female	brain
41	chr18:29844600-29846200	Weak transcription	Brain Inferior Temporal Lobe	brain

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