Variant report

Variant	rs7234961
Chromosome Location	chr18:7934623-7934624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16952755	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs16952764	0.83[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs16952768	0.83[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs17566436	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17566499	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17566876	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28376185	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28704912	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4633833	0.83[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs60434124	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62090937	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62090939	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62090940	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718274	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs7228385	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7229479	0.83[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs7232132	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7232467	0.83[CEU][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7237410	0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs7240783	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7241732	0.83[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7244725	0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs8084791	0.83[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs8087998	0.90[CHB][hapmap]
rs8089170	0.83[CEU][hapmap];0.80[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap]
rs8096083	0.82[CHB][hapmap]
rs8096085	0.90[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap]
rs9949116	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9956729	0.80[CHB][hapmap]

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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7922400-7940600	Weak transcription	Gastric	stomach
2	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
3	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
4	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
6	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:7925000-7936200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7925800-7940400	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:7926000-7936600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr18:7926200-7936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:7926400-7940200	Weak transcription	Brain Germinal Matrix	brain
13	chr18:7926400-7945200	Weak transcription	Ovary	ovary
14	chr18:7926800-7936600	Weak transcription	Fetal Stomach	stomach
15	chr18:7926800-7945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:7926800-7945800	Weak transcription	Fetal Lung	lung
17	chr18:7927400-7936400	Weak transcription	Aorta	Aorta
18	chr18:7927400-7939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr18:7927400-7940200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:7927800-7936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:7927800-7937400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:7927800-7946600	Weak transcription	Fetal Kidney	kidney
23	chr18:7928000-7946600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:7928200-7937400	Weak transcription	Left Ventricle	heart
25	chr18:7929400-7935800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:7929600-7937000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:7932000-7946000	Weak transcription	Brain Anterior Caudate	brain
28	chr18:7932200-7936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:7932200-7961000	Weak transcription	HepG2	liver
30	chr18:7933400-7940400	Weak transcription	Lung	lung
31	chr18:7933600-7945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:7933800-7936200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:7933800-7936400	Weak transcription	A549	lung
34	chr18:7933800-7940000	Weak transcription	Right Atrium	heart
35	chr18:7934200-7941000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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