Variant report

Variant	rs147975455
Chromosome Location	chr16:48417468-48417469
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
4	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
5	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
6	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
7	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
8	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000102910	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:48410400-48417600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:48413200-48417800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:48413400-48417600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr16:48413400-48417600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:48414200-48417800	Weak transcription	Esophagus	oesophagus
10	chr16:48414200-48417800	Weak transcription	Small Intestine	intestine
11	chr16:48414400-48418000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:48415200-48417600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:48415200-48417600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:48415200-48417800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:48415200-48418200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr16:48415400-48417800	Weak transcription	Gastric	stomach
17	chr16:48415400-48419800	Active TSS	GM12878-XiMat	blood
18	chr16:48416000-48417600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:48416200-48417600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:48416200-48417800	Weak transcription	Spleen	Spleen
21	chr16:48416200-48418200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:48416400-48417600	Weak transcription	Left Ventricle	heart
23	chr16:48416400-48417800	Weak transcription	Lung	lung
24	chr16:48416600-48417600	Flanking Active TSS	A549	lung
25	chr16:48416800-48417600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr16:48416800-48417600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr16:48416800-48417600	Flanking Active TSS	HepG2	liver
28	chr16:48416800-48418000	Flanking Active TSS	Liver	Liver
29	chr16:48416800-48418200	Flanking Active TSS	Dnd41	blood
30	chr16:48416800-48418200	Flanking Active TSS	NHEK	skin
31	chr16:48416800-48418400	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
34	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr16:48417000-48417800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr16:48417000-48417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr16:48417000-48418200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr16:48417000-48418600	Active TSS	Fetal Kidney	kidney
39	chr16:48417000-48419800	Active TSS	Brain Germinal Matrix	brain
40	chr16:48417000-48419800	Active TSS	Placenta	Placenta
41	chr16:48417000-48419800	Active TSS	HMEC	breast
42	chr16:48417000-48419800	Active TSS	NHLF	lung
43	chr16:48417000-48420000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:48417000-48420000	Active TSS	NHDF-Ad	bronchial
45	chr16:48417200-48417600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr16:48417200-48417600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr16:48417200-48417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr16:48417200-48417600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr16:48417200-48417600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:48417200-48417600	Flanking Active TSS	Colon Smooth Muscle	Colon

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