Variant report

Variant	rs72798623
Chromosome Location	chr16:74932125-74932126
allele	A/G
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	POLR2A	chr16:74932010-74932155	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74920211..74922466-chr16:74931010..74932980,2	MCF-7	breast:

Variant related genes	Relation type
WDR59	TF binding region
ENSG00000103091	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10514386	0.83[EUR][1000 genomes]
rs10514389	0.95[EUR][1000 genomes]
rs11149776	0.86[EUR][1000 genomes]
rs11149777	0.89[EUR][1000 genomes]
rs11863300	0.81[EUR][1000 genomes]
rs11864349	0.82[EUR][1000 genomes]
rs11865599	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11866550	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2081252	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4887788	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4888307	0.82[EUR][1000 genomes]
rs61333776	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72798621	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72798622	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	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
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:74905200-74938000	Strong transcription	HepG2	liver
3	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:74905400-74950800	Strong transcription	Liver	Liver
5	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:74907200-74938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:74910400-74934000	Strong transcription	Fetal Intestine Large	intestine
9	chr16:74911600-74938200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:74912600-74936000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:74912800-74932400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:74912800-74934600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:74913400-74946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:74914400-74933600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:74914400-74938600	Strong transcription	Adipose Nuclei	Adipose
16	chr16:74915000-74933200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:74915800-74934000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:74917000-74938000	Strong transcription	Primary T cells from cord blood	blood
19	chr16:74921800-74938000	Strong transcription	Fetal Thymus	thymus
20	chr16:74923000-74932200	Weak transcription	Fetal Brain Male	brain
21	chr16:74923200-74938800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:74925600-74939800	Weak transcription	HUVEC	blood vessel
23	chr16:74925600-74947400	Weak transcription	Stomach Mucosa	stomach
24	chr16:74926200-74936600	Strong transcription	Fetal Muscle Leg	muscle
25	chr16:74927000-74933200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:74927200-74932800	Weak transcription	Small Intestine	intestine
27	chr16:74927200-74941000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:74927200-74941400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:74927400-74932400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:74927400-74932400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:74927400-74932400	Weak transcription	Spleen	Spleen
32	chr16:74927400-74937600	Weak transcription	Right Ventricle	heart
33	chr16:74927400-74940200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr16:74927400-74940600	Weak transcription	Pancreas	Pancrea
35	chr16:74927400-74946000	Weak transcription	Psoas Muscle	Psoas
36	chr16:74927600-74932200	Weak transcription	Lung	lung
37	chr16:74927600-74932400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:74927600-74940600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:74927600-74945600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr16:74927800-74932200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:74927800-74932200	Weak transcription	GM12878-XiMat	blood
42	chr16:74927800-74932400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:74927800-74933000	Weak transcription	Aorta	Aorta
44	chr16:74927800-74933400	Weak transcription	Esophagus	oesophagus
45	chr16:74927800-74933400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr16:74927800-74933800	Weak transcription	Fetal Kidney	kidney
47	chr16:74927800-74934000	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:74927800-74936200	Weak transcription	Brain Substantia Nigra	brain
49	chr16:74927800-74940600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:74927800-74942600	Weak transcription	Gastric	stomach

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