Variant report

Variant	rs73513691
Chromosome Location	chr16:12074009-12074010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr16:12073833-12074743	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:12073959-12074701	GM12891	blood:	n/a	n/a
3	RUNX3	chr16:12073961-12074758	GM12878	blood:	n/a	n/a
4	RUNX3	chr16:12073853-12074774	GM12878	blood:	n/a	n/a
5	SMC3	chr16:12073949-12074663	GM12878	blood:	n/a	n/a
6	EBF1	chr16:12073902-12074841	GM12878	blood:	n/a	n/a
7	CHD1	chr16:12073988-12074882	GM12878	blood:	n/a	n/a
8	ATF2	chr16:12073948-12074696	GM12878	blood:	n/a	n/a
9	FOXA1	chr16:12073774-12074156	HepG2	liver:	n/a	n/a
10	MXI1	chr16:12073963-12074655	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12071974..12074044-chr16:12076209..12078195,2	K562	blood:
2	chr16:12073934..12076136-chr16:12129849..12132030,2	K562	blood:
3	chr16:12069758..12072142-chr16:12073979..12076588,4	MCF-7	breast:
4	chr16:12073884..12075657-chr16:12076188..12078702,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234719	TF binding region
ENSG00000260488	TF binding region
ENSG00000048471	Chromatin interaction
ENSG00000260488	Chromatin interaction
ENSG00000234719	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs14817	1.00[AMR][1000 genomes]
rs153026	1.00[AMR][1000 genomes]
rs153027	1.00[AMR][1000 genomes]
rs1794329	1.00[AMR][1000 genomes]
rs251725	1.00[AMR][1000 genomes]
rs33628	1.00[AMR][1000 genomes]
rs33632	1.00[AMR][1000 genomes]
rs33634	1.00[AMR][1000 genomes]
rs33656	1.00[AMR][1000 genomes]
rs33658	1.00[AMR][1000 genomes]
rs370768	1.00[AMR][1000 genomes]
rs379936	1.00[AMR][1000 genomes]
rs386606	1.00[AMR][1000 genomes]
rs419029	1.00[AMR][1000 genomes]
rs419040	1.00[AMR][1000 genomes]
rs426424	1.00[AMR][1000 genomes]
rs432140	1.00[AMR][1000 genomes]
rs434806	1.00[AMR][1000 genomes]
rs469657	1.00[AMR][1000 genomes]
rs636664	1.00[AMR][1000 genomes]
rs677507	1.00[AMR][1000 genomes]
rs73515603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515605	1.00[AMR][1000 genomes]
rs73515607	1.00[AMR][1000 genomes]
rs73515608	1.00[AMR][1000 genomes]
rs73515629	1.00[AMR][1000 genomes]
rs73515632	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071600-12083200	Weak transcription	Left Ventricle	heart
3	chr16:12071800-12078000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:12071800-12079400	Weak transcription	Lung	lung
5	chr16:12071800-12079800	Weak transcription	Aorta	Aorta
6	chr16:12071800-12083200	Weak transcription	Spleen	Spleen
7	chr16:12071800-12088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
9	chr16:12072000-12086200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12072000-12087200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:12072000-12088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr16:12072000-12093600	Weak transcription	Fetal Stomach	stomach
13	chr16:12072200-12075200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:12072200-12077200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:12072200-12084600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr16:12072200-12087400	Weak transcription	Fetal Thymus	thymus
17	chr16:12072200-12088200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:12072200-12088200	Weak transcription	Right Ventricle	heart
19	chr16:12072200-12093800	Weak transcription	Thymus	Thymus
20	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:12072400-12077200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:12072400-12077200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:12072400-12080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:12072400-12082400	Weak transcription	Placenta	Placenta
26	chr16:12072400-12083200	Weak transcription	Adipose Nuclei	Adipose
27	chr16:12072400-12086200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:12072400-12086200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:12072400-12087200	Weak transcription	Primary T cells from cord blood	blood
30	chr16:12072400-12096400	Weak transcription	Ovary	ovary
31	chr16:12072400-12104400	Weak transcription	NHLF	lung
32	chr16:12072600-12075600	Weak transcription	Fetal Kidney	kidney
33	chr16:12072600-12076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:12072600-12076800	Enhancers	Primary B cells from cord blood	blood
35	chr16:12072600-12077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:12072600-12082000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:12072600-12082400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:12072600-12086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:12072600-12094000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:12072600-12094000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:12073200-12074400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr16:12073200-12074800	Flanking Active TSS	GM12878-XiMat	blood
45	chr16:12073600-12074200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:12073600-12075400	Enhancers	Primary B cells from peripheral blood	blood
47	chr16:12074000-12074200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:12074000-12074200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr16:12074000-12074200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr16:12074000-12074600	Enhancers	HepG2	liver

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