Variant report

Variant	rs543294709
Chromosome Location	chr16:70457344-70457345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:70457281-70457777	HL-60	blood:	n/a	n/a
2	NFIC	chr16:70457314-70457763	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70457197-70457411	HepG2	liver:	n/a	n/a
4	ELF1	chr16:70457297-70457647	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70455430..70458238-chr16:70472208..70474351,2	MCF-7	breast:
2	chr16:70455763..70457596-chr16:70471554..70474518,2	K562	blood:
3	chr16:70456594..70459989-chr16:70556737..70559441,3	K562	blood:

Variant related genes	Relation type
ST3GAL2	TF binding region
ENSG00000157350	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv3355138	chr16:70456051-70460349	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70433200-70461600	Weak transcription	Aorta	Aorta
2	chr16:70433400-70461600	Weak transcription	Brain Substantia Nigra	brain
3	chr16:70433600-70461600	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:70438400-70461600	Weak transcription	HSMM	muscle
5	chr16:70438600-70461600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:70438600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:70439200-70458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:70441800-70461600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:70442200-70458600	Weak transcription	NH-A	brain
10	chr16:70445000-70461800	Weak transcription	Brain Germinal Matrix	brain
11	chr16:70445200-70461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:70446200-70457400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:70446400-70461600	Weak transcription	HSMMtube	muscle
14	chr16:70446600-70458600	Weak transcription	Osteobl	bone
15	chr16:70446800-70458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:70448000-70458000	Enhancers	Placenta	Placenta
17	chr16:70448000-70464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:70448400-70460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:70448400-70461800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:70449600-70457400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:70450600-70457400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:70451800-70461400	Weak transcription	NHLF	lung
23	chr16:70452200-70459000	Weak transcription	Fetal Kidney	kidney
24	chr16:70452800-70461800	Weak transcription	Fetal Brain Female	brain
25	chr16:70453000-70457400	Genic enhancers	GM12878-XiMat	blood
26	chr16:70453200-70461600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr16:70453400-70458600	Weak transcription	Dnd41	blood
28	chr16:70453400-70459200	Genic enhancers	K562	blood
29	chr16:70453400-70461600	Weak transcription	Fetal Brain Male	brain
30	chr16:70453600-70458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:70453600-70461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:70453800-70457400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:70453800-70457400	Genic enhancers	Fetal Intestine Large	intestine
34	chr16:70453800-70458600	Weak transcription	Fetal Lung	lung
35	chr16:70453800-70461600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr16:70453800-70470800	Genic enhancers	Fetal Intestine Small	intestine
37	chr16:70454000-70458600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr16:70454200-70461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:70454400-70461600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr16:70454400-70461800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:70454400-70461800	Weak transcription	Esophagus	oesophagus
42	chr16:70454600-70460800	Weak transcription	Small Intestine	intestine
43	chr16:70454600-70461000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:70454800-70461000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:70455000-70458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr16:70455200-70461400	Weak transcription	Stomach Mucosa	stomach
47	chr16:70455200-70461600	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:70455200-70461800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr16:70455400-70458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:70455400-70460800	Weak transcription	Gastric	stomach

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