Variant report

Variant	rs12968232
Chromosome Location	chr18:7940611-7940612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7936902..7939574-chr18:7940048..7941947,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153443	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12326176	0.85[EUR][1000 genomes]
rs12326185	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12954431	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12956961	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12957388	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12957993	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12959314	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12960276	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12963759	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12966777	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13381485	0.85[EUR][1000 genomes]
rs16952705	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16952722	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28434244	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34017251	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34046553	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34049036	1.00[EUR][1000 genomes]
rs34296167	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34554615	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34580701	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35308699	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35434291	0.84[EUR][1000 genomes]
rs35521625	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35558945	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822807	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35830277	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36093720	0.85[EUR][1000 genomes]
rs7239786	0.86[EUR][1000 genomes]
rs7240582	0.85[EUR][1000 genomes]
rs8087770	0.85[EUR][1000 genomes]
rs8087884	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8089133	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8092781	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9807495	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9952741	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9956981	0.85[EUR][1000 genomes]
rs9961079	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv2761987	chr18:7934001-7943335	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr18:7926400-7945200	Weak transcription	Ovary	ovary
3	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
5	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
6	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
8	chr18:7932200-7961000	Weak transcription	HepG2	liver
9	chr18:7933600-7945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:7934200-7941000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:7936800-7941000	Weak transcription	Pancreas	Pancrea
12	chr18:7936800-7944800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:7937200-7945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:7937400-7945600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:7937600-7945600	Weak transcription	Fetal Stomach	stomach
16	chr18:7937600-7947000	Weak transcription	Thymus	Thymus
17	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:7938000-7945600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:7938000-7946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:7939200-7941800	Enhancers	Left Ventricle	heart
23	chr18:7939800-7940800	Weak transcription	Fetal Brain Female	brain
24	chr18:7939800-7941400	Enhancers	Psoas Muscle	Psoas
25	chr18:7939800-7942000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr18:7939800-7942600	Enhancers	A549	lung
27	chr18:7940000-7941800	Enhancers	Right Ventricle	heart
28	chr18:7940000-7942000	Enhancers	Right Atrium	heart
29	chr18:7940000-7942000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr18:7940200-7940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:7940200-7942000	Enhancers	Fetal Heart	heart
32	chr18:7940200-7942800	Enhancers	Brain Germinal Matrix	brain
33	chr18:7940200-7944200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:7940200-7945600	Weak transcription	HSMM	muscle
35	chr18:7940400-7940800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:7940400-7941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:7940400-7941800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr18:7940400-7941800	Enhancers	Lung	lung
39	chr18:7940400-7942000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:7940600-7940800	Enhancers	Gastric	stomach
41	chr18:7940600-7941000	Weak transcription	Adipose Nuclei	Adipose
42	chr18:7940600-7941000	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:7940600-7945400	Weak transcription	Aorta	Aorta

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