Variant report

Variant	rs12443838
Chromosome Location	chr16:79809655-79809656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79809357..79812774-chr16:79814579..79816705,4	MCF-7	breast:
2	chr16:79802602..79806589-chr16:79809015..79812346,4	MCF-7	breast:
3	chr16:79793734..79796159-chr16:79809178..79810688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261390	Chromatin interaction
ENSG00000260876	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11150177	1.00[CHB][hapmap]
rs11639999	0.91[EUR][1000 genomes]
rs11643469	0.92[EUR][1000 genomes]
rs11649585	0.91[EUR][1000 genomes]
rs4313818	1.00[ASN][1000 genomes]
rs4506911	1.00[CHD][hapmap];1.00[JPT][hapmap];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]
rs62041346	1.00[ASN][1000 genomes]
rs62041347	1.00[ASN][1000 genomes]
rs62041348	1.00[ASN][1000 genomes]
rs62041350	0.92[EUR][1000 genomes]
rs62041351	0.91[EUR][1000 genomes]
rs7187139	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7498926	1.00[CHB][hapmap]

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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79805000-79810400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:79805200-79810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:79805200-79810200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:79805200-79810200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:79805200-79810200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:79805200-79810200	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:79805200-79810200	Weak transcription	NH-A	brain
8	chr16:79805400-79810200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:79805400-79810200	Weak transcription	Adipose Nuclei	Adipose
10	chr16:79805400-79810200	Weak transcription	Thymus	Thymus
11	chr16:79805400-79810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:79805400-79810400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:79805600-79810400	Weak transcription	Colonic Mucosa	Colon
14	chr16:79806000-79810200	Weak transcription	Fetal Thymus	thymus
15	chr16:79806000-79810400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr16:79806200-79810200	Weak transcription	Fetal Kidney	kidney
17	chr16:79806200-79810400	Weak transcription	K562	blood
18	chr16:79806400-79810200	Weak transcription	Fetal Lung	lung
19	chr16:79806600-79810200	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:79806800-79810200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:79807000-79810200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:79807400-79810200	Weak transcription	Fetal Intestine Small	intestine
23	chr16:79807800-79810200	Weak transcription	Fetal Intestine Large	intestine
24	chr16:79808000-79810200	Weak transcription	Fetal Stomach	stomach
25	chr16:79808200-79810200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:79808600-79811000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:79808800-79810000	Enhancers	Esophagus	oesophagus
28	chr16:79809000-79810600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:79809000-79810600	Enhancers	NHEK	skin
30	chr16:79809200-79810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:79809200-79811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:79809200-79811000	Enhancers	HMEC	breast
33	chr16:79809400-79810200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:79809400-79810800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:79809600-79810800	Enhancers	Rectal Mucosa Donor 29	rectum

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