Variant report

Variant	rs1941136
Chromosome Location	chr18:7594890-7594891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11877002	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs16952257	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs16952260	0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs1893223	0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs1941138	0.91[EUR][1000 genomes]
rs2032176	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2032177	0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs28399859	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28558612	0.83[EUR][1000 genomes]
rs4798571	0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs4798573	0.91[EUR][1000 genomes]
rs524833	0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs6506520	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6506523	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6506524	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6650627	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7228736	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7232258	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7233631	0.83[EUR][1000 genomes]
rs8086999	0.90[EUR][1000 genomes]
rs8098234	0.83[EUR][1000 genomes]
rs9946325	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs9955885	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs9956880	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
6	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7578400-7595000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:7579800-7596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:7580600-7600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:7583000-7595000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:7585000-7600600	Weak transcription	Spleen	Spleen
6	chr18:7585400-7600000	Weak transcription	A549	lung
7	chr18:7586400-7596000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
9	chr18:7591200-7597400	Enhancers	Left Ventricle	heart
10	chr18:7591400-7598200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:7591400-7599800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:7591400-7600400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:7591600-7596000	Weak transcription	NH-A	brain
14	chr18:7591600-7598400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:7591600-7599800	Weak transcription	Brain Anterior Caudate	brain
16	chr18:7591600-7603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:7591800-7596000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:7592000-7596000	Weak transcription	NHDF-Ad	bronchial
19	chr18:7592400-7595800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:7592400-7596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:7592800-7595000	Weak transcription	Right Ventricle	heart
22	chr18:7592800-7600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:7592800-7603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:7593000-7595000	Weak transcription	Right Atrium	heart
25	chr18:7593000-7596000	Weak transcription	Adipose Nuclei	Adipose
26	chr18:7593000-7599600	Weak transcription	Lung	lung
27	chr18:7593200-7595000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:7593400-7596400	Enhancers	Colon Smooth Muscle	Colon
29	chr18:7593600-7596000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:7593600-7596000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7593600-7597000	Weak transcription	Fetal Lung	lung
32	chr18:7593800-7595000	Weak transcription	Pancreas	Pancrea
33	chr18:7593800-7595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:7593800-7595400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:7593800-7596000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:7593800-7598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:7593800-7599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:7594000-7595200	Weak transcription	Fetal Heart	heart
39	chr18:7594800-7596600	Enhancers	Psoas Muscle	Psoas

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