Variant report

Variant	rs308928
Chromosome Location	chr16:77766852-77766853
allele	C/T
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	STAT3	chr16:77766355-77766946	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA1	chr16:77766484-77766893	HepG2	liver:	n/a	n/a
3	CEBPB	chr16:77766447-77766927	HepG2	liver:	n/a	chr16:77766842-77766859 chr16:77766631-77766642
4	FOXA1	chr16:77766435-77766887	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:77766497-77767004	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr16:77766188-77767047	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr16:77766264-77766886	IMR90	lung:	n/a	chr16:77766842-77766859 chr16:77766631-77766642

No.	Distal block	Cell Line	Cell type
1	chr16:77765002..77768780-chr16:77770930..77773782,4	MCF-7	breast:
2	chr16:77753451..77757928-chr16:77766064..77768456,6	MCF-7	breast:
3	chr16:77765083..77768080-chr16:77781511..77783034,2	K562	blood:
4	chr16:77755663..77757621-chr16:77766034..77767869,2	MCF-7	breast:

Variant related genes	Relation type
NUDT7	TF binding region
ENSG00000140876	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs186305	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2914454	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs308924	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs308926	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521833	chr16:77516263-77819441	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv532564	chr16:77549380-78143752	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1057595	chr16:77574148-77898842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1060068	chr16:77615499-78353775	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv533524	chr16:77647084-78344935	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv817298	chr16:77657985-78420722	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv995082	chr16:77671578-78098537	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv498151	chr16:77671578-78187104	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv1057199	chr16:77671830-78399395	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv1059659	chr16:77711216-77832146	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1064170	chr16:77711216-78169001	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv542972	chr16:77711216-78169001	Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv457543	chr16:77728235-78010447	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv573129	chr16:77728235-78010447	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1062004	chr16:77731718-77766852	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77757000-77773800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:77757200-77768600	Weak transcription	Psoas Muscle	Psoas
3	chr16:77757200-77771400	Weak transcription	Gastric	stomach
4	chr16:77757200-77774200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:77757200-77778400	Weak transcription	Spleen	Spleen
6	chr16:77757400-77768000	Weak transcription	Fetal Intestine Large	intestine
7	chr16:77757400-77768200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:77757400-77768400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:77757400-77769800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:77757400-77771000	Weak transcription	Primary B cells from cord blood	blood
11	chr16:77757400-77771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:77757400-77771600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:77757400-77772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:77757400-77772600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:77757400-77772600	Weak transcription	Placenta	Placenta
16	chr16:77757400-77772800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:77757400-77773400	Weak transcription	Pancreas	Pancrea
18	chr16:77757400-77776600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:77757400-77778200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr16:77757400-77778600	Weak transcription	Aorta	Aorta
21	chr16:77757400-77779600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:77757600-77771000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:77757600-77777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:77758000-77779800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:77759400-77768000	Strong transcription	Liver	Liver
26	chr16:77759800-77771400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:77760600-77771400	Weak transcription	Brain Anterior Caudate	brain
28	chr16:77761000-77769000	Weak transcription	Primary T cells from cord blood	blood
29	chr16:77761000-77780000	Weak transcription	Adipose Nuclei	Adipose
30	chr16:77761200-77767200	Weak transcription	Left Ventricle	heart
31	chr16:77761200-77768200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:77761200-77769200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:77761200-77770400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:77761200-77770400	Weak transcription	Thymus	Thymus
35	chr16:77761200-77771400	Weak transcription	Ovary	ovary
36	chr16:77761200-77771800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:77761200-77779400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:77761400-77771600	Weak transcription	Fetal Intestine Small	intestine
39	chr16:77761400-77777000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr16:77763000-77772600	Weak transcription	Right Ventricle	heart
41	chr16:77764600-77772800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:77766000-77767000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:77766400-77767000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr16:77766400-77767000	Enhancers	HepG2	liver
45	chr16:77766400-77767000	Enhancers	NH-A	brain
46	chr16:77766400-77767400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr16:77766800-77773400	Weak transcription	NHLF	lung

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