Variant report

Variant	rs35830277
Chromosome Location	chr18:7945573-7945574
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	FOSL2	chr18:7945572-7947091	A549	lung:	n/a	chr18:7946121-7946132 chr18:7946126-7946133 chr18:7946124-7946133 chr18:7946041-7946050 chr18:7946041-7946048
2	TCF12	chr18:7945551-7947134	A549	lung:	n/a	n/a

Variant related genes	Relation type
PTPRM	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153443	0.87[EUR][1000 genomes]
rs12326176	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12326185	0.87[EUR][1000 genomes]
rs12954431	0.87[EUR][1000 genomes]
rs12956961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957388	0.87[EUR][1000 genomes]
rs12957993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12959314	0.87[EUR][1000 genomes]
rs12960276	0.87[EUR][1000 genomes]
rs12963759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12966777	0.87[EUR][1000 genomes]
rs12968232	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13381485	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16952705	0.87[EUR][1000 genomes]
rs16952722	0.83[EUR][1000 genomes]
rs28434244	0.87[EUR][1000 genomes]
rs34017251	0.87[EUR][1000 genomes]
rs34046553	0.87[EUR][1000 genomes]
rs34049036	0.87[EUR][1000 genomes]
rs34296167	0.87[EUR][1000 genomes]
rs34554615	0.87[EUR][1000 genomes]
rs34580701	0.87[EUR][1000 genomes]
rs35308699	0.87[EUR][1000 genomes]
rs35434291	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35521625	0.87[EUR][1000 genomes]
rs35558945	0.87[EUR][1000 genomes]
rs35822807	0.87[EUR][1000 genomes]
rs36093720	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7239786	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7240582	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8087770	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8087884	0.87[EUR][1000 genomes]
rs8089133	0.87[EUR][1000 genomes]
rs8092781	0.87[EUR][1000 genomes]
rs9807495	0.82[EUR][1000 genomes]
rs9952741	0.82[EUR][1000 genomes]
rs9956981	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961079	0.87[EUR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
4	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
5	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
7	chr18:7932200-7961000	Weak transcription	HepG2	liver
8	chr18:7937200-7945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:7937400-7945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:7937600-7945600	Weak transcription	Fetal Stomach	stomach
11	chr18:7937600-7947000	Weak transcription	Thymus	Thymus
12	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:7938000-7946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:7940200-7945600	Weak transcription	HSMM	muscle
18	chr18:7941000-7946600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:7941200-7945600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:7941200-7945800	Weak transcription	Adipose Nuclei	Adipose
21	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
22	chr18:7941800-7945800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr18:7941800-7945800	Weak transcription	Right Ventricle	heart
24	chr18:7941800-7946000	Weak transcription	Brain Substantia Nigra	brain
25	chr18:7941800-7946800	Weak transcription	Lung	lung
26	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:7942000-7945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:7942000-7945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr18:7942000-7945600	Weak transcription	NHEK	skin
30	chr18:7942000-7945800	Weak transcription	Stomach Mucosa	stomach
31	chr18:7942000-7946400	Weak transcription	Right Atrium	heart
32	chr18:7942000-7946600	Weak transcription	Fetal Heart	heart
33	chr18:7942000-7946800	Weak transcription	Brain Angular Gyrus	brain
34	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:7942200-7946000	Weak transcription	Pancreas	Pancrea
37	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
38	chr18:7942600-7946800	Weak transcription	Gastric	stomach
39	chr18:7942800-7945600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:7943000-7946600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr18:7943000-7946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:7944200-7946600	Enhancers	Hela-S3	cervix
43	chr18:7944200-7946800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:7944600-7946200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr18:7944800-7945600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr18:7945000-7945600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:7945000-7945600	Enhancers	Left Ventricle	heart
48	chr18:7945000-7945600	Enhancers	A549	lung
49	chr18:7945200-7946200	Enhancers	NHDF-Ad	bronchial
50	chr18:7945200-7946600	Enhancers	Ovary	ovary

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