Variant report

Variant	rs59945461
Chromosome Location	chr16:31548668-31548669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31542180..31543844-chr16:31548477..31549987,2	K562	blood:
2	chr16:31518860..31520696-chr16:31547620..31550269,2	K562	blood:

Variant related genes	Relation type
ENSG00000140688	Chromatin interaction
ENSG00000260625	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57381220	1.00[EUR][1000 genomes]
rs59089972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59230414	1.00[EUR][1000 genomes]
rs60177199	1.00[AMR][1000 genomes]
rs73538394	1.00[AMR][1000 genomes]
rs73538401	1.00[AMR][1000 genomes]
rs73540218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540246	1.00[EUR][1000 genomes]
rs73540269	1.00[AMR][1000 genomes]
rs73540284	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929179	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv960003	chr16:31540814-31561659	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31543800-31548800	Weak transcription	Gastric	stomach
2	chr16:31546800-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:31548200-31549200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:31548200-31549200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr16:31548200-31549200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:31548200-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:31548400-31548800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr16:31548400-31548800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr16:31548400-31548800	Bivalent Enhancer	Spleen	Spleen
10	chr16:31548400-31549200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr16:31548400-31549600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:31548400-31549600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr16:31548600-31548800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr16:31548600-31548800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr16:31548600-31548800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr16:31548600-31548800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
17	chr16:31548600-31548800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:31548600-31548800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:31548600-31548800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr16:31548600-31548800	Bivalent Enhancer	Esophagus	oesophagus
21	chr16:31548600-31548800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr16:31548600-31548800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr16:31548600-31548800	Flanking Active TSS	Fetal Lung	lung
24	chr16:31548600-31548800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr16:31548600-31548800	Flanking Active TSS	Lung	lung
26	chr16:31548600-31548800	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr16:31548600-31548800	Flanking Active TSS	Right Atrium	heart
28	chr16:31548600-31548800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr16:31548600-31548800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
30	chr16:31548600-31549000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr16:31548600-31549000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:31548600-31549000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr16:31548600-31549000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:31548600-31549000	Bivalent/Poised TSS	HepG2	liver
35	chr16:31548600-31549200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31548600-31549200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:31548600-31549200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr16:31548600-31549200	Bivalent/Poised TSS	Colonic Mucosa	Colon
39	chr16:31548600-31549200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr16:31548600-31549200	Active TSS	Ovary	ovary
41	chr16:31548600-31549200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
42	chr16:31548600-31549400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr16:31548600-31549400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:31548600-31549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr16:31548600-31549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr16:31548600-31549400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:31548600-31549400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:31548600-31549400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr16:31548600-31549400	Active TSS	Fetal Kidney	kidney
50	chr16:31548600-31549400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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