Variant report

Variant	rs41508646
Chromosome Location	chr16:31343322-31343323
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31341937..31343785-chr16:31345527..31347045,2	K562	blood:
2	chr16:31308392..31310591-chr16:31341817..31344039,2	K562	blood:
3	chr16:31198991..31202851-chr16:31343045..31346880,4	K562	blood:
4	chr16:31342392..31343986-chr16:31347244..31349142,2	MCF-7	breast:
5	chr16:31225253..31228025-chr16:31342774..31345764,2	MCF-7	breast:
6	chr16:31211282..31213179-chr16:31343243..31345626,2	K562	blood:
7	chr16:31190368..31193316-chr16:31342467..31345225,2	K562	blood:
8	chr16:31331494..31335412-chr16:31342610..31345111,3	K562	blood:
9	chr16:31118693..31121313-chr16:31341607..31344535,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103507	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000177238	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2230425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41408845	1.00[AMR][1000 genomes]
rs41474849	0.91[AFR][1000 genomes]
rs41476945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41507448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41514252	1.00[AMR][1000 genomes]
rs41519244	0.91[AFR][1000 genomes]
rs72550859	1.00[AMR][1000 genomes]
rs72550884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31341400-31343400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
3	chr16:31342000-31343400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr16:31342000-31343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:31342400-31343400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:31342400-31343400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:31342400-31343400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr16:31342600-31343400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31342800-31343400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr16:31342800-31343400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
11	chr16:31342800-31344200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:31342800-31344400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:31343000-31343400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr16:31343000-31343400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr16:31343000-31343400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:31343000-31343400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr16:31343000-31343400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr16:31343000-31343400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:31343000-31343400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:31343000-31343400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr16:31343000-31343400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:31343000-31343400	Enhancers	Pancreas	Pancrea
23	chr16:31343000-31343600	Flanking Bivalent TSS/Enh	HMEC	breast
24	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
25	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
30	chr16:31343200-31343400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:31343200-31343400	Enhancers	Primary B cells from peripheral blood	blood
32	chr16:31343200-31343400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr16:31343200-31343400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr16:31343200-31343400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
36	chr16:31343200-31343400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr16:31343200-31343400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
38	chr16:31343200-31343400	Bivalent Enhancer	Esophagus	oesophagus
39	chr16:31343200-31343400	ZNF genes & repeats	Gastric	stomach
40	chr16:31343200-31343400	Bivalent Enhancer	Dnd41	blood
41	chr16:31343200-31343400	Bivalent Enhancer	HepG2	liver
42	chr16:31343200-31343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr16:31343200-31343600	Transcr. at gene 5' and 3'	Spleen	Spleen
44	chr16:31343200-31343800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr16:31343200-31344000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr16:31343200-31344400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:31343200-31345000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr16:31343200-31345000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:31343200-31345000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:31343200-31345400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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