Variant report

Variant	rs9949194
Chromosome Location	chr18:7627199-7627200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1893223	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1941137	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1941138	0.85[JPT][hapmap]
rs1941141	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28558612	0.91[ASN][1000 genomes]
rs4798571	0.85[JPT][hapmap]
rs4798573	0.85[JPT][hapmap]
rs521887	0.87[JPT][hapmap]
rs523776	0.81[JPT][hapmap]
rs524833	0.85[JPT][hapmap]
rs565784	0.81[JPT][hapmap]
rs7233631	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8086999	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8098234	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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	chr18:7620000-7627200	Weak transcription	HSMMtube	muscle
2	chr18:7620000-7632000	Weak transcription	Fetal Kidney	kidney
3	chr18:7620400-7633400	Weak transcription	Aorta	Aorta
4	chr18:7620600-7632400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr18:7623800-7627800	Enhancers	Right Ventricle	heart
6	chr18:7624200-7629000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:7624800-7627800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr18:7625000-7627200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:7625600-7627600	Flanking Active TSS	HepG2	liver
10	chr18:7625800-7627200	Enhancers	Gastric	stomach
11	chr18:7625800-7627600	Enhancers	Pancreas	Pancrea
12	chr18:7625800-7628000	Enhancers	Left Ventricle	heart
13	chr18:7625800-7628200	Enhancers	Right Atrium	heart
14	chr18:7625800-7628400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr18:7625800-7631000	Enhancers	Psoas Muscle	Psoas
16	chr18:7626000-7627600	Enhancers	Liver	Liver
17	chr18:7626000-7628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:7626000-7628000	Enhancers	Adipose Nuclei	Adipose
19	chr18:7626000-7628000	Enhancers	Fetal Heart	heart
20	chr18:7626000-7628200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr18:7626200-7627400	Weak transcription	Small Intestine	intestine
22	chr18:7626200-7627600	Enhancers	Ovary	ovary
23	chr18:7626200-7627800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:7626200-7627800	Enhancers	Spleen	Spleen
25	chr18:7626400-7627200	Enhancers	Rectal Smooth Muscle	rectum
26	chr18:7626400-7627600	Enhancers	Colon Smooth Muscle	Colon
27	chr18:7626400-7627600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr18:7626400-7627600	Enhancers	Fetal Muscle Leg	muscle
29	chr18:7626400-7627600	Flanking Active TSS	A549	lung
30	chr18:7626400-7627600	Enhancers	Osteobl	bone
31	chr18:7626400-7627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:7626400-7627800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:7626400-7627800	Enhancers	Hela-S3	cervix
34	chr18:7626400-7627800	Enhancers	NHEK	skin
35	chr18:7626400-7628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:7626400-7628000	Enhancers	Stomach Smooth Muscle	stomach
37	chr18:7626400-7628000	Enhancers	NHDF-Ad	bronchial
38	chr18:7626400-7628200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:7626400-7628200	Enhancers	Lung	lung
40	chr18:7626600-7627400	Enhancers	Fetal Lung	lung
41	chr18:7626600-7627800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:7626600-7627800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr18:7626600-7627800	Enhancers	NH-A	brain
44	chr18:7626600-7628000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:7626600-7628000	Enhancers	HUVEC	blood vessel
46	chr18:7626600-7628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:7626600-7628200	Enhancers	Placenta	Placenta
48	chr18:7626800-7627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr18:7626800-7627800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:7626800-7627800	Enhancers	NHLF	lung

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