Variant report

Variant	rs184276903
Chromosome Location	chr16:75283715-75283716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:75282035-75284158	A549	lung:	n/a	n/a
3	POLR2A	chr16:75283441-75286634	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
6	POLR2A	chr16:75283673-75284152	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:75283388-75283914	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr16:75283492-75286412	HepG2	liver:	n/a	n/a
11	SMARCC1	chr16:75283658-75285335	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr16:75282576-75286469	IMR90	lung:	n/a	n/a
13	POLR2A	chr16:75283555-75284138	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr16:75283619-75284330	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:75282611-75286449	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr16:75281756-75283725	HUVEC	blood vessel:	n/a	n/a
17	MXI1	chr16:75282706-75286188	IMR90	lung:	n/a	n/a
18	POLR2A	chr16:75283314-75283887	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr16:75283714-75284030	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:75282692-75286211	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr16:75283642-75285711	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr16:75280180-75288779	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr16:75283608-75286774	HepG2	liver:	n/a	n/a
24	MAZ	chr16:75281437-75286746	IMR90	lung:	n/a	chr16:75282710-75282719

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
2	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
3	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
4	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
5	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:

No data

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000168928	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	esv3409818	chr16:75283676-75286424	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75276800-75283800	Enhancers	Left Ventricle	heart
2	chr16:75277200-75284200	Enhancers	Spleen	Spleen
3	chr16:75277600-75283800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr16:75277600-75283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:75277600-75283800	Enhancers	Ovary	ovary
6	chr16:75277600-75284000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:75277600-75284000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:75277600-75284000	Enhancers	Right Atrium	heart
9	chr16:75277600-75284400	Enhancers	Fetal Lung	lung
10	chr16:75277800-75284200	Enhancers	Liver	Liver
11	chr16:75278000-75284000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr16:75278200-75283800	Enhancers	Pancreas	Pancrea
13	chr16:75278200-75284800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr16:75278600-75284000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr16:75278800-75284000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:75279000-75283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:75279000-75284200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:75279000-75284600	Enhancers	Fetal Heart	heart
19	chr16:75279400-75283800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:75280000-75284000	Flanking Active TSS	HUVEC	blood vessel
21	chr16:75280000-75284400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:75280000-75284600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:75280400-75283800	Weak transcription	Fetal Kidney	kidney
24	chr16:75280600-75283800	Weak transcription	GM12878-XiMat	blood
25	chr16:75280800-75284400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:75281200-75284800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:75281400-75284000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:75281400-75284000	Enhancers	Lung	lung
29	chr16:75281400-75284600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr16:75281600-75283800	Enhancers	Esophagus	oesophagus
31	chr16:75281600-75284000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:75281800-75284000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr16:75281800-75284200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:75281800-75284200	Enhancers	Small Intestine	intestine
35	chr16:75282000-75284200	Flanking Active TSS	Osteobl	bone
36	chr16:75282200-75284200	Flanking Active TSS	Stomach Mucosa	stomach
37	chr16:75282200-75284400	Flanking Active TSS	HMEC	breast
38	chr16:75282200-75284600	Flanking Active TSS	Colonic Mucosa	Colon
39	chr16:75282200-75284800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr16:75282400-75284000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:75282400-75284000	Flanking Active TSS	HSMM	muscle
42	chr16:75282400-75284200	Enhancers	Fetal Brain Male	brain
43	chr16:75282400-75284400	Weak transcription	K562	blood
44	chr16:75282600-75284000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr16:75282600-75284000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:75282600-75284000	Transcr. at gene 5' and 3'	NHLF	lung
47	chr16:75282600-75284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:75282600-75284200	Flanking Active TSS	Gastric	stomach
49	chr16:75282800-75283800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr16:75282800-75283800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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