Variant report

Variant	rs9934612
Chromosome Location	chr16:81513230-81513231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr16:81512324-81513559	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:81512297-81513232	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81510977-81518691	A549	lung:	n/a	n/a
4	RELA	chr16:81512401-81513238	GM18951	blood:	n/a	n/a
5	CEBPB	chr16:81512386-81513356	GM12878	blood:	n/a	chr16:81513023-81513034
6	MAZ	chr16:81512482-81513281	GM12878	blood:	n/a	n/a
7	RELA	chr16:81512467-81513234	GM15510	blood:	n/a	n/a
8	RELA	chr16:81512470-81513282	GM19099	blood:	n/a	n/a
9	RUNX3	chr16:81512386-81513250	GM12878	blood:	n/a	n/a
10	RELA	chr16:81511980-81513341	GM10847	blood:	n/a	n/a
11	RELA	chr16:81512404-81513345	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
2	chr16:81477417..81480247-chr16:81511265..81517424,6	MCF-7	breast:
3	chr16:81512177..81513721-chr16:81563313..81565727,2	K562	blood:
4	chr16:81512810..81515349-chr16:81620937..81623015,2	K562	blood:
5	chr16:81480566..81483421-chr16:81511394..81514320,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260229	TF binding region
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11859878	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11865163	0.82[AMR][1000 genomes]
rs12149827	0.82[AMR][1000 genomes]
rs9937466	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv573359	chr16:81509279-81525637	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv521875	chr16:81510742-81514750	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
2	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:81497600-81514600	Weak transcription	HSMM	muscle
5	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:81503000-81516600	Weak transcription	Brain Germinal Matrix	brain
8	chr16:81504000-81517800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:81504200-81513400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr16:81504200-81518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:81504400-81514600	Strong transcription	NHEK	skin
12	chr16:81505200-81525600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:81505400-81521800	Weak transcription	Fetal Kidney	kidney
14	chr16:81505800-81514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:81505800-81515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:81505800-81523600	Weak transcription	Fetal Brain Male	brain
17	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:81506800-81513600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr16:81506800-81517600	Weak transcription	HMEC	breast
21	chr16:81507000-81514800	Weak transcription	Brain Angular Gyrus	brain
22	chr16:81507400-81514400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr16:81507600-81516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:81507600-81518400	Enhancers	Spleen	Spleen
25	chr16:81507800-81516400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr16:81507800-81519400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:81508000-81514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:81508000-81514400	Weak transcription	NHLF	lung
29	chr16:81508000-81514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:81508000-81516400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:81508000-81518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:81508200-81514200	Weak transcription	Brain Substantia Nigra	brain
33	chr16:81508200-81514800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:81508600-81519400	Weak transcription	Ovary	ovary
35	chr16:81509400-81513600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:81509400-81518000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr16:81509800-81514000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr16:81509800-81517600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr16:81509800-81518600	Enhancers	Lung	lung
40	chr16:81510000-81513600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:81510000-81516000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr16:81510000-81517200	Enhancers	Small Intestine	intestine
43	chr16:81510000-81518400	Enhancers	Placenta	Placenta
44	chr16:81510000-81518800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr16:81510200-81513600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr16:81510200-81513600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:81510200-81516000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:81510200-81517000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr16:81510400-81513400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr16:81510400-81513800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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