Variant report

Variant	rs112339247
Chromosome Location	chr16:46821616-46821617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr16:46821569-46822348	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46722584..46725164-chr16:46820460..46823244,2	K562	blood:

Variant related genes	Relation type
ENSG00000260782	TF binding region
ENSG00000091651	Chromatin interaction
ENSG00000069329	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
10	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1067283	chr16:46801709-46885218	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv1797464	chr16:46820464-46857454	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46791000-46823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:46812800-46823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:46819200-46822200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:46819200-46823400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:46819200-46823400	Weak transcription	HMEC	breast
6	chr16:46819400-46822200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:46819400-46822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:46819400-46823000	Weak transcription	Stomach Mucosa	stomach
9	chr16:46819400-46823400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:46819400-46823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:46819400-46823400	Weak transcription	NHEK	skin
12	chr16:46819600-46821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:46819600-46822200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:46819600-46822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:46819600-46822400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:46819600-46823400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:46819600-46823400	Weak transcription	Placenta	Placenta
18	chr16:46819800-46822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:46819800-46822200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:46819800-46822200	Weak transcription	HepG2	liver
21	chr16:46819800-46823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:46821000-46823400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr16:46821000-46823800	Enhancers	Primary B cells from peripheral blood	blood
24	chr16:46821200-46823400	Weak transcription	Ovary	ovary
25	chr16:46821200-46824000	Enhancers	Primary B cells from cord blood	blood
26	chr16:46821400-46821800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:46821600-46821800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr16:46821600-46821800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr16:46821600-46821800	Enhancers	Spleen	Spleen
30	chr16:46821600-46821800	Enhancers	K562	blood
31	chr16:46821600-46821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr16:46821600-46822000	Weak transcription	Fetal Heart	heart
33	chr16:46821600-46822400	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:46821600-46823800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:46821600-46823800	Flanking Active TSS	GM12878-XiMat	blood

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