Variant report

Variant	rs9949304
Chromosome Location	chr18:8286262-8286263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8286081..8288713-chr18:8292383..8293972,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11872590	1.00[AMR][1000 genomes]
rs28728377	0.82[AFR][1000 genomes]
rs73939420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr18:8245400-8288600	Weak transcription	Aorta	Aorta
3	chr18:8264200-8287800	Weak transcription	Lung	lung
4	chr18:8265400-8288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:8265400-8296600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8270800-8297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8275200-8296400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:8280000-8286400	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:8280800-8288600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:8281400-8288600	Weak transcription	Fetal Heart	heart
11	chr18:8281400-8288800	Weak transcription	Fetal Brain Male	brain
12	chr18:8281600-8288800	Weak transcription	Spleen	Spleen
13	chr18:8283800-8286600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:8284000-8286600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:8284200-8287000	Weak transcription	NHDF-Ad	bronchial
16	chr18:8284600-8288800	Weak transcription	Adipose Nuclei	Adipose
17	chr18:8284600-8288800	Weak transcription	Fetal Stomach	stomach
18	chr18:8284600-8298800	Weak transcription	HepG2	liver
19	chr18:8284600-8300600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:8284800-8296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:8284800-8296400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:8284800-8296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr18:8284800-8301000	Weak transcription	Osteobl	bone
24	chr18:8285000-8286400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:8285600-8292800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:8286000-8286800	Enhancers	Pancreas	Pancrea
27	chr18:8286200-8286400	Enhancers	Gastric	stomach
28	chr18:8286200-8286400	Enhancers	Left Ventricle	heart
29	chr18:8286200-8286800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:8286200-8289200	Enhancers	Fetal Lung	lung

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