Variant report

Variant	rs11646054
Chromosome Location	chr16:31495671-31495672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:31495671-31496243	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31495527-31495748	HepG2	liver:	n/a	n/a
3	TEAD4	chr16:31495650-31496369	HepG2	liver:	n/a	chr16:31495918-31495927

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31494997..31499043-chr16:31517756..31521950,4	K562	blood:
2	chr16:31493200..31498370-chr16:31536887..31540209,4	K562	blood:
3	chr16:31494438..31500083-chr16:31500912..31506203,9	K562	blood:
4	chr16:31463991..31465903-chr16:31493683..31496529,2	K562	blood:
5	chr16:31493479..31495178-chr16:31495310..31496878,2	K562	blood:
6	chr16:31468059..31475073-chr16:31494279..31502185,17	MCF-7	breast:
7	chr16:31469520..31471789-chr16:31495046..31498029,3	MCF-7	breast:
8	chr16:31494997..31497772-chr16:31517756..31520591,2	K562	blood:

No data

Variant related genes	Relation type
SLC5A2	TF binding region
ENSG00000140688	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000169877	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260267	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10596	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11150624	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1135265	0.80[AFR][1000 genomes]
rs11646911	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35884660	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3813007	0.83[ASN][1000 genomes]
rs4313820	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4597343	0.80[ASN][1000 genomes]
rs4889661	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889664	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889666	0.80[ASN][1000 genomes]
rs7201796	0.80[ASN][1000 genomes]
rs7206531	0.80[ASN][1000 genomes]
rs8050563	0.80[ASN][1000 genomes]
rs8050712	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv482193	chr16:31494439-31502091	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31486600-31495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:31486800-31495800	Weak transcription	HMEC	breast
3	chr16:31488800-31495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:31489000-31495800	Weak transcription	Gastric	stomach
5	chr16:31489400-31496000	Weak transcription	NH-A	brain
6	chr16:31489400-31496200	Weak transcription	Fetal Lung	lung
7	chr16:31489400-31496200	Weak transcription	A549	lung
8	chr16:31489400-31498600	Weak transcription	Esophagus	oesophagus
9	chr16:31489400-31498600	Weak transcription	Ovary	ovary
10	chr16:31489600-31498600	Weak transcription	Left Ventricle	heart
11	chr16:31489600-31498800	Weak transcription	Aorta	Aorta
12	chr16:31490000-31498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:31490000-31498600	Weak transcription	Liver	Liver
14	chr16:31490600-31498600	Weak transcription	Pancreas	Pancrea
15	chr16:31490800-31496000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:31491200-31495800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:31491400-31495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:31491400-31495800	Weak transcription	Colonic Mucosa	Colon
19	chr16:31492400-31495800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr16:31492400-31497800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:31492400-31498600	Weak transcription	Right Atrium	heart
22	chr16:31492600-31495800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:31492600-31496000	Weak transcription	Right Ventricle	heart
24	chr16:31492600-31496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:31492600-31497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:31492600-31498600	Weak transcription	Spleen	Spleen
27	chr16:31492800-31495800	Weak transcription	Fetal Heart	heart
28	chr16:31492800-31495800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:31492800-31496000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:31492800-31496000	Weak transcription	Lung	lung
31	chr16:31492800-31497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:31493000-31495800	Weak transcription	K562	blood
33	chr16:31493200-31496000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:31493600-31497600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:31494800-31496000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:31495200-31496000	Enhancers	Fetal Intestine Large	intestine
37	chr16:31495200-31496000	Enhancers	Fetal Intestine Small	intestine
38	chr16:31495400-31495800	Active TSS	Fetal Kidney	kidney
39	chr16:31495600-31496600	Flanking Active TSS	HepG2	liver

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