Variant report

Variant	rs531024154
Chromosome Location	chr16:48418195-48418196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48416397..48419006-chr16:48635531..48637181,2	K562	blood:
2	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
3	chr16:2013351..2015357-chr16:48417776..48419360,2	MCF-7	breast:
4	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
5	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
6	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
7	chr16:48277094..48279506-chr16:48417848..48419466,2	K562	blood:
8	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
9	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
10	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
11	chr16:48367808..48369426-chr16:48417936..48419640,2	MCF-7	breast:
12	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
13	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
14	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
15	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
16	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255513	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000121270	Chromatin interaction
ENSG00000240793	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000102910	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv572538	chr16:48415611-48419259	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
14	nsv572539	chr16:48415611-48419662	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48415200-48418200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr16:48415400-48419800	Active TSS	GM12878-XiMat	blood
3	chr16:48416200-48418200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:48416800-48418200	Flanking Active TSS	Dnd41	blood
5	chr16:48416800-48418200	Flanking Active TSS	NHEK	skin
6	chr16:48416800-48418400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
9	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr16:48417000-48418200	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr16:48417000-48418600	Active TSS	Fetal Kidney	kidney
12	chr16:48417000-48419800	Active TSS	Brain Germinal Matrix	brain
13	chr16:48417000-48419800	Active TSS	Placenta	Placenta
14	chr16:48417000-48419800	Active TSS	HMEC	breast
15	chr16:48417000-48419800	Active TSS	NHLF	lung
16	chr16:48417000-48420000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:48417000-48420000	Active TSS	NHDF-Ad	bronchial
18	chr16:48417200-48418200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr16:48417200-48418200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr16:48417200-48418200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:48417200-48418200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr16:48417200-48418200	Flanking Active TSS	Hela-S3	cervix
23	chr16:48417200-48418400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr16:48417200-48418400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr16:48417200-48418400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr16:48417200-48418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:48417200-48418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:48417200-48418600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr16:48417200-48419000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:48417200-48419000	Active TSS	Right Atrium	heart
31	chr16:48417200-48419800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr16:48417200-48419800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:48417200-48419800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:48417200-48419800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:48417200-48420000	Active TSS	Aorta	Aorta
36	chr16:48417200-48420000	Active TSS	Fetal Intestine Large	intestine
37	chr16:48417200-48420000	Active TSS	Ovary	ovary
38	chr16:48417200-48420200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:48417200-48420200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:48417200-48420200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:48417200-48420200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:48417200-48420200	Active TSS	Psoas Muscle	Psoas
43	chr16:48417400-48418200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr16:48417400-48418200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:48417400-48418200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr16:48417400-48418400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:48417400-48418600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr16:48417400-48418600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr16:48417400-48419800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:48417400-48419800	Active TSS	Colonic Mucosa	Colon

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