Variant report

Variant	rs60600197
Chromosome Location	chr18:7680487-7680488
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7675475..7677808-chr18:7679199..7680841,2	K562	blood:
2	chr18:7675331..7677808-chr18:7679199..7680841,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28497003	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609201	0.85[ASN][1000 genomes]
rs7240069	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086686	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960652	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7657400-7680600	Weak transcription	Ovary	ovary
2	chr18:7668600-7681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:7668800-7680800	Weak transcription	Gastric	stomach
4	chr18:7669600-7688400	Weak transcription	Aorta	Aorta
5	chr18:7671400-7680800	Weak transcription	Small Intestine	intestine
6	chr18:7676800-7680800	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:7677600-7682000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:7677600-7682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:7678600-7680800	Weak transcription	Psoas Muscle	Psoas
10	chr18:7678600-7683400	Weak transcription	Placenta	Placenta
11	chr18:7678600-7683600	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:7679600-7682800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr18:7679600-7683400	Weak transcription	HMEC	breast
14	chr18:7680000-7681000	Enhancers	Pancreas	Pancrea
15	chr18:7680000-7681200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:7680000-7682200	Enhancers	Right Ventricle	heart
17	chr18:7680000-7682400	Enhancers	Fetal Heart	heart
18	chr18:7680200-7681200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:7680200-7682000	Enhancers	Right Atrium	heart
20	chr18:7680200-7683200	Weak transcription	Left Ventricle	heart
21	chr18:7680400-7680800	Weak transcription	Spleen	Spleen
22	chr18:7680400-7681000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr18:7680400-7683000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:7680400-7683200	Weak transcription	Lung	lung
25	chr18:7680400-7685800	Enhancers	Skeletal Muscle Male	skeletal muscle

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