Variant report

Variant	rs116319190
Chromosome Location	chr16:48413924-48413925
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48406174..48409195-chr16:48411058..48414705,6	K562	blood:
2	chr16:48398562..48401765-chr16:48412536..48415889,3	MCF-7	breast:
3	chr16:48411112..48415935-chr16:48417584..48420654,6	MCF-7	breast:
4	chr16:48411748..48415998-chr16:48416243..48420831,11	K562	blood:
5	chr16:48406348..48408797-chr16:48412397..48415717,4	MCF-7	breast:
6	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:120 , 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	chr16:48403200-48415000	Enhancers	Adipose Nuclei	Adipose
4	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr16:48406400-48416800	Enhancers	Liver	Liver
6	chr16:48406600-48417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:48407000-48414400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:48407800-48417200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:48408000-48415000	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:48408000-48416600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:48409000-48417000	Weak transcription	Fetal Kidney	kidney
12	chr16:48409000-48417200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:48409200-48416800	Weak transcription	NHDF-Ad	bronchial
14	chr16:48409200-48417000	Weak transcription	NHLF	lung
15	chr16:48409200-48417200	Weak transcription	NH-A	brain
16	chr16:48409200-48417200	Weak transcription	Osteobl	bone
17	chr16:48409400-48416800	Weak transcription	HUVEC	blood vessel
18	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:48410400-48414400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:48410400-48417600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr16:48410600-48414000	Enhancers	Primary hematopoietic stem cells	blood
22	chr16:48410600-48414200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:48410800-48414400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr16:48411400-48414000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr16:48411400-48416200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr16:48411600-48414800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:48411600-48415000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:48411600-48415000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:48411600-48416200	Enhancers	Placenta	Placenta
30	chr16:48411600-48416400	Weak transcription	HSMM	muscle
31	chr16:48411600-48417400	Enhancers	Primary B cells from cord blood	blood
32	chr16:48411800-48415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:48412000-48414000	Enhancers	Fetal Heart	heart
35	chr16:48412000-48414000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:48412000-48414000	Enhancers	Right Atrium	heart
37	chr16:48412000-48414400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr16:48412000-48416800	Enhancers	HepG2	liver
39	chr16:48412000-48417000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr16:48412200-48414000	Enhancers	Primary T cells from cord blood	blood
41	chr16:48412200-48414000	Enhancers	Fetal Intestine Large	intestine
42	chr16:48412200-48414200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr16:48412200-48415200	Enhancers	Dnd41	blood
44	chr16:48412200-48416600	Enhancers	A549	lung
45	chr16:48412200-48416600	Enhancers	K562	blood
46	chr16:48412400-48414200	Enhancers	Brain Anterior Caudate	brain
47	chr16:48412400-48414400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr16:48412400-48414400	Enhancers	Colon Smooth Muscle	Colon
49	chr16:48412400-48414400	Enhancers	Fetal Intestine Small	intestine
50	chr16:48412400-48414600	Enhancers	Primary T helper cells fromperipheralblood	blood

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