Variant report

Variant	rs530115406
Chromosome Location	chr1:9537252-9537253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9514768..9516687-chr1:9535496..9537861,2	K562	blood:
2	chr1:9350330..9352545-chr1:9535232..9537394,2	MCF-7	breast:
3	chr1:9536052..9538916-chr1:9541812..9545284,3	MCF-7	breast:
4	chr1:9501654..9503304-chr1:9535794..9537313,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv517755	chr1:9514846-9539693	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3379170	chr1:9535765-9539563	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3423918	chr1:9536465-9539563	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3382125	chr1:9536565-9539463	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9526000-9555200	Weak transcription	Right Atrium	heart
2	chr1:9533600-9537800	Weak transcription	Fetal Lung	lung
3	chr1:9533600-9540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:9535200-9537800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:9535200-9538200	Enhancers	HMEC	breast
6	chr1:9535800-9538000	Enhancers	NHEK	skin
7	chr1:9536000-9538200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:9536600-9538000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:9536800-9537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:9536800-9537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:9536800-9537400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:9536800-9537600	Enhancers	Fetal Intestine Small	intestine
13	chr1:9536800-9537600	Enhancers	A549	lung
14	chr1:9536800-9537600	Enhancers	GM12878-XiMat	blood
15	chr1:9536800-9537800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:9536800-9537800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:9536800-9537800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:9536800-9538000	Enhancers	Hela-S3	cervix
19	chr1:9536800-9538000	Enhancers	NHDF-Ad	bronchial
20	chr1:9536800-9538800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:9537000-9537800	Weak transcription	Pancreas	Pancrea
22	chr1:9537200-9537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:9537200-9537400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:9537200-9537400	Weak transcription	Fetal Kidney	kidney
25	chr1:9537200-9537600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:9537200-9537600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:9537200-9537800	Enhancers	Esophagus	oesophagus
28	chr1:9537200-9537800	Enhancers	Fetal Intestine Large	intestine

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