Variant report

Variant	rs8048529
Chromosome Location	chr16:75275630-75275631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75274620-75276018	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:75275336-75275724	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:75275241-75276732	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:75267324-75275839	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr16:75275480-75275630	HepG2	liver:	n/a	chr16:75275500-75275509 chr16:75275494-75275512
6	CTCF	chr16:75275580-75275730	SAEC	small airway:	n/a	n/a
7	POLR2A	chr16:75274766-75277346	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:75275615-75275707	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr16:75275620-75275770	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr16:75275580-75275730	HEEpiC	esophagus:	n/a	n/a
11	POLR2A	chr16:75275429-75275838	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:75275570-75275657	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:75260096..75262598-chr16:75274071..75277051,2	K562	blood:
2	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:
3	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
4	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
5	chr16:75271315..75273372-chr16:75275391..75277280,2	K562	blood:

No data

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000261783	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000240338	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1035539	0.90[ASN][1000 genomes]
rs11645191	0.88[ASN][1000 genomes]
rs13331385	0.90[EUR][1000 genomes]
rs13337017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13337397	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2287990	0.90[EUR][1000 genomes]
rs28439846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28595463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28690217	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2870463	0.85[EUR][1000 genomes]
rs3743614	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784939	0.89[ASN][1000 genomes]
rs3826110	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56787417	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59067758	0.86[ASN][1000 genomes]
rs60470336	0.85[EUR][1000 genomes]
rs60852020	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60879082	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61634868	0.85[EUR][1000 genomes]
rs6564232	0.85[EUR][1000 genomes]
rs6564233	0.85[EUR][1000 genomes]
rs6564234	0.85[EUR][1000 genomes]
rs6564236	0.85[EUR][1000 genomes]
rs6564237	0.85[EUR][1000 genomes]
rs66473537	0.85[EUR][1000 genomes]
rs66535165	0.85[EUR][1000 genomes]
rs66881382	0.85[EUR][1000 genomes]
rs67478528	0.85[EUR][1000 genomes]
rs7185352	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7197389	0.85[EUR][1000 genomes]
rs7197746	0.85[EUR][1000 genomes]
rs7202844	0.85[EUR][1000 genomes]
rs7202858	0.83[EUR][1000 genomes]
rs7202877	0.85[EUR][1000 genomes]
rs72802372	0.85[EUR][1000 genomes]
rs72802375	0.85[EUR][1000 genomes]
rs72804106	0.99[EUR][1000 genomes]
rs73605136	0.83[EUR][1000 genomes]
rs73605139	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8046145	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053595	0.85[EUR][1000 genomes]
rs8054218	0.85[EUR][1000 genomes]
rs8063014	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9921586	0.86[EUR][1000 genomes]
rs9940370	0.85[EUR][1000 genomes]

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	nsv9459	chr16:75274167-75277500	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
5	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
9	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:75272400-75276200	Genic enhancers	HUVEC	blood vessel
13	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
14	chr16:75273000-75277200	Genic enhancers	Right Ventricle	heart
15	chr16:75273200-75275800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:75273200-75275800	Genic enhancers	NH-A	brain
17	chr16:75273200-75276000	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr16:75273200-75276200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:75273200-75277000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr16:75273200-75277200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:75273400-75276200	Weak transcription	Hela-S3	cervix
22	chr16:75273400-75277000	Genic enhancers	Brain Angular Gyrus	brain
23	chr16:75273400-75277000	Strong transcription	Fetal Intestine Small	intestine
24	chr16:75273400-75277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:75273400-75277600	Strong transcription	Fetal Intestine Large	intestine
26	chr16:75273400-75277800	Weak transcription	Fetal Thymus	thymus
27	chr16:75273400-75278000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr16:75273600-75277200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:75273600-75277600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:75273800-75276000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:75273800-75276400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:75273800-75277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:75273800-75277600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr16:75274000-75276400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:75274000-75276600	Strong transcription	Colon Smooth Muscle	Colon
36	chr16:75274000-75277000	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr16:75274000-75277200	Strong transcription	Esophagus	oesophagus
38	chr16:75274000-75277400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:75274000-75277400	Strong transcription	Liver	Liver
40	chr16:75274000-75277400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:75274000-75277600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr16:75274000-75277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:75274000-75278600	Genic enhancers	NHLF	lung
44	chr16:75274200-75277000	Genic enhancers	Brain Hippocampus Middle	brain
45	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:75274200-75277600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:75274200-75277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:75274200-75277800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr16:75274200-75278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:75274200-75278200	Genic enhancers	HepG2	liver

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