Variant report

Variant	rs4313818
Chromosome Location	chr16:79807198-79807199
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	chr16:79806235..79808248-chr16:79862805..79864762,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12443838	1.00[ASN][1000 genomes]
rs4506911	0.92[ASN][1000 genomes]
rs56052219	0.85[ASN][1000 genomes]
rs62041308	0.85[ASN][1000 genomes]
rs62041309	0.85[ASN][1000 genomes]
rs62041310	0.85[ASN][1000 genomes]
rs62041312	0.85[ASN][1000 genomes]
rs62041324	0.85[ASN][1000 genomes]
rs62041325	0.85[ASN][1000 genomes]
rs62041327	0.85[ASN][1000 genomes]
rs62041339	0.85[ASN][1000 genomes]
rs62041344	0.85[ASN][1000 genomes]
rs62041345	0.81[EUR][1000 genomes]
rs62041346	1.00[ASN][1000 genomes]
rs62041347	1.00[ASN][1000 genomes]
rs62041348	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041349	0.81[EUR][1000 genomes]
rs7187139	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79805000-79807400	Enhancers	Fetal Intestine Small	intestine
2	chr16:79805000-79807800	Enhancers	Fetal Intestine Large	intestine
3	chr16:79805000-79808800	Weak transcription	Esophagus	oesophagus
4	chr16:79805000-79809200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:79805000-79809400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:79805000-79810400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:79805200-79808600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:79805200-79809000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr16:79805200-79809000	Weak transcription	NHEK	skin
10	chr16:79805200-79809200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:79805200-79809200	Weak transcription	HMEC	breast
12	chr16:79805200-79810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:79805200-79810200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr16:79805200-79810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:79805200-79810200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:79805200-79810200	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:79805200-79810200	Weak transcription	NH-A	brain
18	chr16:79805400-79809400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:79805400-79810200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:79805400-79810200	Weak transcription	Adipose Nuclei	Adipose
21	chr16:79805400-79810200	Weak transcription	Thymus	Thymus
22	chr16:79805400-79810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:79805400-79810400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:79805600-79810400	Weak transcription	Colonic Mucosa	Colon
25	chr16:79805800-79807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:79806000-79810200	Weak transcription	Fetal Thymus	thymus
27	chr16:79806000-79810400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:79806200-79807600	Weak transcription	Fetal Stomach	stomach
29	chr16:79806200-79810200	Weak transcription	Fetal Kidney	kidney
30	chr16:79806200-79810400	Weak transcription	K562	blood
31	chr16:79806400-79810200	Weak transcription	Fetal Lung	lung
32	chr16:79806600-79809600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:79806600-79810200	Weak transcription	Fetal Muscle Leg	muscle
34	chr16:79806800-79810200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:79807000-79809200	Weak transcription	Small Intestine	intestine
36	chr16:79807000-79810200	Weak transcription	Rectal Mucosa Donor 31	rectum

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