Variant report

Variant	rs409512
Chromosome Location	chr11:72282039-72282040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72281234..72282064-chr13:111364772..111365743,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000153487	Chromatin interaction
ENSG00000134905	Chromatin interaction

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	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72273600-72282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72276400-72287800	Weak transcription	Fetal Brain Female	brain
4	chr11:72279400-72282400	Enhancers	Placenta	Placenta
5	chr11:72279800-72282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:72280000-72282400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:72280000-72282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:72280000-72283000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:72280000-72283000	Enhancers	HMEC	breast
10	chr11:72280000-72283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:72280000-72283800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:72280200-72282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:72280200-72282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:72280400-72282200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:72280400-72284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:72280800-72283000	Flanking Active TSS	Hela-S3	cervix
17	chr11:72281000-72283200	Enhancers	Fetal Intestine Large	intestine
18	chr11:72281400-72282200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr11:72281400-72287400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:72281600-72282200	Flanking Active TSS	HSMM	muscle
21	chr11:72281600-72282800	Enhancers	Spleen	Spleen
22	chr11:72281600-72283000	Enhancers	NHEK	skin
23	chr11:72281600-72284600	Weak transcription	HSMMtube	muscle
24	chr11:72281600-72287400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:72281800-72282200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:72281800-72282200	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:72281800-72282200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:72281800-72283000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:72281800-72284800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:72282000-72282400	Enhancers	Right Ventricle	heart
31	chr11:72282000-72284400	Weak transcription	Muscle Satellite Cultured Cells	--

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