Variant report

Variant	rs9302643
Chromosome Location	chr16:72840276-72840277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:72840263-72842400	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72839113..72841151-chr16:72854033..72856771,2	MCF-7	breast:
2	chr16:72837783..72840580-chr16:72848572..72850573,2	K562	blood:

Variant related genes	Relation type
ENSG00000259209	TF binding region
ENSG00000251868	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13332581	1.00[AMR][1000 genomes]
rs7185566	1.00[MEX][hapmap]
rs7193704	1.00[MEX][hapmap]
rs7206401	1.00[AMR][1000 genomes]
rs8043976	1.00[MEX][hapmap]
rs8052455	1.00[AMR][1000 genomes]
rs9921746	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9932458	1.00[MEX][hapmap]
rs9933493	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72821600-72842800	Strong transcription	HepG2	liver
2	chr16:72822000-72847000	Weak transcription	Small Intestine	intestine
3	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
4	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr16:72822400-72844600	Weak transcription	NHDF-Ad	bronchial
6	chr16:72822800-72840400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:72822800-72840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:72822800-72855600	Weak transcription	Thymus	Thymus
9	chr16:72825200-72847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:72826800-72840600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:72830200-72840400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:72832200-72842400	Weak transcription	Psoas Muscle	Psoas
13	chr16:72832200-72844800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:72832200-72846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:72832200-72858400	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:72832400-72844800	Weak transcription	Brain Anterior Caudate	brain
17	chr16:72832400-72844800	Weak transcription	Colonic Mucosa	Colon
18	chr16:72832600-72845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:72832600-72845400	Weak transcription	Esophagus	oesophagus
20	chr16:72832600-72847600	Weak transcription	Right Ventricle	heart
21	chr16:72832600-72852000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
23	chr16:72832800-72844800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:72833000-72844600	Weak transcription	HUVEC	blood vessel
25	chr16:72833000-72845000	Weak transcription	Fetal Kidney	kidney
26	chr16:72833000-72845200	Weak transcription	GM12878-XiMat	blood
27	chr16:72833000-72846200	Weak transcription	Fetal Heart	heart
28	chr16:72833000-72847600	Weak transcription	Pancreas	Pancrea
29	chr16:72833200-72840400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:72833400-72844800	Weak transcription	Aorta	Aorta
31	chr16:72833600-72844600	Weak transcription	NHLF	lung
32	chr16:72833600-72844800	Weak transcription	Gastric	stomach
33	chr16:72833600-72845000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:72833600-72856000	Weak transcription	Primary B cells from cord blood	blood
35	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
36	chr16:72833800-72844200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:72833800-72844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:72833800-72844600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:72833800-72844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:72833800-72845000	Weak transcription	Dnd41	blood
41	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:72834000-72840400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:72834000-72844800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr16:72834000-72844800	Weak transcription	Ovary	ovary
45	chr16:72834000-72844800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:72834000-72848200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:72834200-72842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:72834200-72843200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:72834200-72844200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:72834200-72844400	Weak transcription	Osteobl	bone

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