Variant report

Variant	rs535957527
Chromosome Location	chr16:48420399-48420400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:48417727-48420439	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
2	chr16:48419382..48420884-chr16:48422551..48425300,2	MCF-7	breast:
3	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
4	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
5	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
6	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
7	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
8	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
9	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
10	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
11	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:

No data

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000196470	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000102921	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv960007	chr16:48413351-48426696	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	nsv572540	chr16:48415611-48423780	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
15	esv3521659	chr16:48417776-48420599	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
16	esv3521660	chr16:48417776-48420599	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
17	esv3327230	chr16:48418276-48420824	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
18	esv1836854	chr16:48418505-48440630	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
19	esv1840262	chr16:48418505-48440630	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
20	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	esv1798711	chr16:48418681-48440630	Flanking Active TSS Enhancers Active TSS Weak transcription 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr16:48417800-48420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:48419600-48421200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:48419800-48420400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48419800-48421200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:48420000-48420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:48420000-48420600	Weak transcription	Aorta	Aorta
8	chr16:48420000-48420600	Weak transcription	Lung	lung
9	chr16:48420000-48420600	Weak transcription	Ovary	ovary
10	chr16:48420000-48422400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:48420000-48424400	Weak transcription	Right Atrium	heart
12	chr16:48420000-48429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:48420200-48420400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:48420200-48420400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:48420200-48420400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr16:48420200-48420400	Enhancers	Fetal Brain Male	brain
17	chr16:48420200-48420600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:48420200-48420600	Enhancers	Adipose Nuclei	Adipose
19	chr16:48420200-48420600	Enhancers	Hela-S3	cervix
20	chr16:48420200-48420600	Bivalent Enhancer	HepG2	liver
21	chr16:48420200-48420600	Enhancers	Osteobl	bone
22	chr16:48420200-48420800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:48420200-48420800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr16:48420200-48420800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr16:48420200-48420800	Enhancers	Fetal Muscle Trunk	muscle
26	chr16:48420200-48420800	Enhancers	A549	lung
27	chr16:48420200-48421000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:48420200-48421000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:48420200-48421000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:48420200-48421000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr16:48420200-48421000	Enhancers	Brain Hippocampus Middle	brain
32	chr16:48420200-48421000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:48420200-48421000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr16:48420200-48421200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr16:48420200-48421200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr16:48420200-48421200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr16:48420200-48421200	Enhancers	Placenta	Placenta
38	chr16:48420200-48421200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:48420200-48421200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr16:48420200-48422400	Weak transcription	NHEK	skin
41	chr16:48420200-48422600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:48420200-48425000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:48420200-48427200	Weak transcription	Psoas Muscle	Psoas

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