Variant report

Variant	rs7230889
Chromosome Location	chr18:7924976-7924977
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	chr18:7921540..7923960-chr18:7924672..7926506,2	K562	blood:
2	chr18:7919128..7921184-chr18:7922798..7925622,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4356582	1.00[AMR][1000 genomes]
rs4633832	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	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
3	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
4	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
5	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
6	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
7	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7907800-7926600	Weak transcription	Aorta	Aorta
2	chr18:7920600-7925000	Enhancers	HMEC	breast
3	chr18:7922200-7925000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:7922200-7925600	Enhancers	Left Ventricle	heart
5	chr18:7922200-7926600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr18:7922400-7925200	Enhancers	HepG2	liver
7	chr18:7922400-7925600	Enhancers	Hela-S3	cervix
8	chr18:7922400-7926000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:7922400-7927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:7922400-7940600	Weak transcription	Gastric	stomach
11	chr18:7922600-7925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:7922800-7925000	Enhancers	Right Atrium	heart
13	chr18:7923000-7925600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:7923000-7936200	Weak transcription	Thymus	Thymus
15	chr18:7923200-7926600	Weak transcription	Stomach Mucosa	stomach
16	chr18:7923400-7925600	Weak transcription	Psoas Muscle	Psoas
17	chr18:7923400-7926600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:7923400-7926600	Weak transcription	Pancreas	Pancrea
19	chr18:7923400-7926600	Weak transcription	NHLF	lung
20	chr18:7923400-7932400	Weak transcription	HSMM	muscle
21	chr18:7923400-7937400	Weak transcription	Right Ventricle	heart
22	chr18:7923400-7945800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:7923600-7927200	Weak transcription	Osteobl	bone
24	chr18:7923600-7937000	Weak transcription	Adipose Nuclei	Adipose
25	chr18:7923800-7926400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:7923800-7926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:7923800-7926600	Weak transcription	Small Intestine	intestine
28	chr18:7923800-7928200	Weak transcription	Colon Smooth Muscle	Colon
29	chr18:7923800-7936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:7924000-7925000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:7924200-7925600	Enhancers	A549	lung
32	chr18:7924400-7925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:7924400-7925200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:7924400-7940400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:7924600-7925800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr18:7924600-7926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:7924600-7926800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:7924800-7925000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr18:7924800-7925000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr18:7924800-7925000	Enhancers	Fetal Heart	heart
41	chr18:7924800-7925000	Enhancers	Lung	lung

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