Variant report

Variant	rs80262770
Chromosome Location	chr16:48416535-48416536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48416397..48419006-chr16:48635531..48637181,2	K562	blood:
2	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
3	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
4	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
5	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:

Variant related genes	Relation type
ENSG00000102910	Chromatin interaction
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:119 , 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	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr16:48406400-48416800	Enhancers	Liver	Liver
5	chr16:48406600-48417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:48407800-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:48408000-48416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:48409000-48417000	Weak transcription	Fetal Kidney	kidney
9	chr16:48409000-48417200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:48409200-48416800	Weak transcription	NHDF-Ad	bronchial
11	chr16:48409200-48417000	Weak transcription	NHLF	lung
12	chr16:48409200-48417200	Weak transcription	NH-A	brain
13	chr16:48409200-48417200	Weak transcription	Osteobl	bone
14	chr16:48409400-48416800	Weak transcription	HUVEC	blood vessel
15	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:48410400-48417600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr16:48411600-48417400	Enhancers	Primary B cells from cord blood	blood
18	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:48412000-48416800	Enhancers	HepG2	liver
20	chr16:48412000-48417000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:48412200-48416600	Enhancers	A549	lung
22	chr16:48412200-48416600	Enhancers	K562	blood
23	chr16:48412600-48416800	Enhancers	Duodenum Mucosa	Duodenum
24	chr16:48413000-48417200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:48413200-48417800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:48413400-48416800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr16:48413400-48417200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:48413400-48417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:48413400-48417400	Weak transcription	Colonic Mucosa	Colon
30	chr16:48413400-48417600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:48413400-48417600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:48413600-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:48413600-48417200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:48413800-48417000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:48413800-48417200	Weak transcription	Aorta	Aorta
36	chr16:48413800-48417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:48414000-48416600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:48414000-48416600	Weak transcription	Fetal Heart	heart
39	chr16:48414000-48416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:48414000-48416800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr16:48414000-48416800	Weak transcription	Fetal Intestine Large	intestine
42	chr16:48414000-48417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr16:48414000-48417200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr16:48414000-48417200	Weak transcription	Fetal Stomach	stomach
45	chr16:48414000-48417400	Weak transcription	Primary T cells from cord blood	blood
46	chr16:48414200-48416600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:48414200-48417200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:48414200-48417800	Weak transcription	Esophagus	oesophagus
49	chr16:48414200-48417800	Weak transcription	Small Intestine	intestine
50	chr16:48414400-48416600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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