Variant report

Variant	rs34303653
Chromosome Location	chr16:31491547-31491548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31490218-31491554	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr16:31490126-31491600	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31489343..31491711-chr16:31717962..31720192,2	MCF-7	breast:
2	chr16:31486386..31493720-chr16:31496174..31501149,12	MCF-7	breast:
3	chr16:31491042..31492934-chr16:31724495..31726823,2	K562	blood:
4	chr16:31470583..31473018-chr16:31491234..31494131,2	MCF-7	breast:
5	chr16:31489272..31492078-chr16:31509160..31511521,2	K562	blood:
6	chr16:31487154..31492170-chr16:31516854..31521226,9	K562	blood:
7	chr16:31491434..31493805-chr16:31716545..31718864,2	K562	blood:
8	chr16:31490676..31492263-chr16:31495628..31497859,2	K562	blood:
9	chr16:31463232..31465351-chr16:31489348..31492023,2	K562	blood:

No data

Variant related genes	Relation type
SLC5A2	TF binding region
ENSG00000140688	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000261474	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11863886	1.00[ASN][1000 genomes]
rs11866146	1.00[AMR][1000 genomes]
rs73538351	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31484400-31492000	Weak transcription	Right Atrium	heart
2	chr16:31486600-31495800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:31486800-31495800	Weak transcription	HMEC	breast
4	chr16:31487400-31493400	Weak transcription	HSMM	muscle
5	chr16:31487600-31491800	Weak transcription	NHDF-Ad	bronchial
6	chr16:31488800-31492200	Weak transcription	Small Intestine	intestine
7	chr16:31488800-31495800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:31489000-31492000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:31489000-31495800	Weak transcription	Gastric	stomach
10	chr16:31489400-31492000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:31489400-31492200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:31489400-31492200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:31489400-31492200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:31489400-31492600	Enhancers	Duodenum Mucosa	Duodenum
15	chr16:31489400-31492800	Enhancers	Fetal Intestine Large	intestine
16	chr16:31489400-31496000	Weak transcription	NH-A	brain
17	chr16:31489400-31496200	Weak transcription	Fetal Lung	lung
18	chr16:31489400-31496200	Weak transcription	A549	lung
19	chr16:31489400-31498600	Weak transcription	Esophagus	oesophagus
20	chr16:31489400-31498600	Weak transcription	Ovary	ovary
21	chr16:31489600-31491800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:31489600-31491800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:31489600-31492000	Weak transcription	Right Ventricle	heart
24	chr16:31489600-31492400	Weak transcription	Stomach Mucosa	stomach
25	chr16:31489600-31492600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:31489600-31498600	Weak transcription	Left Ventricle	heart
27	chr16:31489600-31498800	Weak transcription	Aorta	Aorta
28	chr16:31489800-31492000	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:31489800-31492000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:31489800-31492200	Weak transcription	Spleen	Spleen
31	chr16:31490000-31494400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:31490000-31498400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:31490000-31498600	Weak transcription	Liver	Liver
34	chr16:31490200-31493400	Bivalent Enhancer	HepG2	liver
35	chr16:31490400-31491800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:31490400-31492000	Weak transcription	Adipose Nuclei	Adipose
37	chr16:31490400-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:31490400-31492200	Weak transcription	Placenta	Placenta
39	chr16:31490600-31491800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:31490600-31492200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:31490600-31492800	Enhancers	Fetal Intestine Small	intestine
42	chr16:31490600-31498600	Weak transcription	Pancreas	Pancrea
43	chr16:31490800-31491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:31490800-31491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:31490800-31491800	Weak transcription	K562	blood
46	chr16:31490800-31492200	Weak transcription	Lung	lung
47	chr16:31490800-31493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:31490800-31496000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:31491000-31492000	Weak transcription	Fetal Stomach	stomach
50	chr16:31491000-31492000	Weak transcription	Osteobl	bone

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