Variant report

Variant	rs529528470
Chromosome Location	chr14:104315720-104315721
allele	C/G
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	POLR2A	chr14:104315710-104315800	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr14:104315671-104315743	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104314115..104315805-chr14:104327365..104329517,2	MCF-7	breast:
2	chr14:104313555..104317821-chr14:104384318..104388009,4	MCF-7	breast:

Variant related genes	Relation type
PPP1R13B	TF binding region
ENSG00000156411	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	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv1837236	chr14:104313426-104332759	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv566028	chr14:104314023-104332759	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104313000-104315800	Active TSS	Brain Cingulate Gyrus	brain
2	chr14:104314400-104315800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr14:104314600-104316200	Enhancers	Fetal Heart	heart
4	chr14:104314800-104316200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr14:104314800-104320200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:104315000-104315800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr14:104315000-104315800	Enhancers	Pancreas	Pancrea
8	chr14:104315000-104316000	Enhancers	Left Ventricle	heart
9	chr14:104315000-104316000	Enhancers	Spleen	Spleen
10	chr14:104315000-104316200	Flanking Active TSS	HepG2	liver
11	chr14:104315000-104320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:104315000-104320400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:104315200-104315800	Enhancers	Gastric	stomach
14	chr14:104315200-104316000	Enhancers	Esophagus	oesophagus
15	chr14:104315200-104316000	Genic enhancers	Fetal Intestine Small	intestine
16	chr14:104315200-104316000	Enhancers	Right Ventricle	heart
17	chr14:104315200-104320400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:104315200-104320400	Weak transcription	Lung	lung
19	chr14:104315200-104327600	Weak transcription	Ovary	ovary
20	chr14:104315400-104315800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr14:104315400-104316000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:104315400-104316000	Enhancers	Colonic Mucosa	Colon
23	chr14:104315400-104316400	Enhancers	Fetal Intestine Large	intestine
24	chr14:104315400-104316400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:104315400-104316600	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:104315400-104320000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:104315400-104320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:104315400-104320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:104315400-104321200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:104315600-104319800	Weak transcription	Placenta	Placenta
31	chr14:104315600-104320200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:104315600-104320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:104315600-104320400	Weak transcription	Fetal Lung	lung

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