Variant report

Variant	rs2865827
Chromosome Location	chr16:75304366-75304367
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	ZNF384	chr16:75304269-75304660	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75298255..75301654-chr16:75302973..75305723,3	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001861	0.97[ASN][1000 genomes]
rs12919951	0.92[ASN][1000 genomes]
rs12928974	0.97[ASN][1000 genomes]
rs2865826	0.97[ASN][1000 genomes]
rs4888368	0.84[ASN][1000 genomes]
rs7195324	0.85[ASN][1000 genomes]
rs8182132	0.81[AMR][1000 genomes]
rs999674	0.95[ASN][1000 genomes]
rs999675	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75300600-75305600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:75300800-75304600	Enhancers	Fetal Muscle Leg	muscle
3	chr16:75300800-75305000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:75300800-75305400	Weak transcription	GM12878-XiMat	blood
5	chr16:75300800-75305800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr16:75301000-75305800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:75301000-75325000	Weak transcription	Liver	Liver
8	chr16:75301200-75305600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75301600-75305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:75301800-75305600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:75301800-75305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:75301800-75306000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:75301800-75321800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:75302000-75306000	Weak transcription	Right Atrium	heart
15	chr16:75302000-75315800	Weak transcription	Fetal Brain Female	brain
16	chr16:75302000-75324000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:75302200-75305600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:75302200-75305800	Weak transcription	Spleen	Spleen
19	chr16:75302200-75307400	Weak transcription	Osteobl	bone
20	chr16:75302400-75304400	Weak transcription	Placenta	Placenta
21	chr16:75302400-75305200	Weak transcription	NHDF-Ad	bronchial
22	chr16:75302400-75305400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:75302400-75305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:75302400-75305400	Weak transcription	HSMMtube	muscle
25	chr16:75302400-75305600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:75302400-75305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:75302400-75305600	Weak transcription	NHLF	lung
28	chr16:75302400-75305800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr16:75302400-75305800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:75302400-75305800	Weak transcription	Left Ventricle	heart
31	chr16:75302400-75305800	Weak transcription	Psoas Muscle	Psoas
32	chr16:75302400-75305800	Weak transcription	HUVEC	blood vessel
33	chr16:75302400-75306000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr16:75302400-75306000	Weak transcription	A549	lung
35	chr16:75302400-75306200	Weak transcription	NH-A	brain
36	chr16:75302400-75306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:75302400-75306800	Weak transcription	HMEC	breast
38	chr16:75302400-75307000	Weak transcription	NHEK	skin
39	chr16:75302400-75307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:75302400-75307200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr16:75302400-75307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:75302400-75313400	Weak transcription	HSMM	muscle
43	chr16:75302400-75314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:75302600-75305400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr16:75302600-75305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:75302600-75305800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:75302600-75313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr16:75303400-75305400	Enhancers	HepG2	liver
49	chr16:75303800-75305600	Weak transcription	Fetal Heart	heart
50	chr16:75303800-75305800	Weak transcription	Fetal Lung	lung

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