Variant report

Variant	rs118133284
Chromosome Location	chr1:197050430-197050431
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197049200-197050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197049800-197051800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:197050000-197052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr1:197050200-197050800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:197050200-197051400	Weak transcription	Fetal Kidney	kidney
6	chr1:197050200-197052200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr1:197050200-197052400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:197050400-197050600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:197050400-197050800	ZNF genes & repeats	Gastric	stomach
10	chr1:197050400-197051600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
11	chr1:197050400-197051800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:197050400-197052000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:197050400-197052200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:197050400-197052200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:197050400-197052200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr1:197050400-197052200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:197050400-197052200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:197050400-197052200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:197050400-197052200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr1:197050400-197052400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:197050400-197052400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr1:197050400-197055200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr1:197050400-197065600	Weak transcription	Stomach Mucosa	stomach

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