Variant report

Variant	rs3826110
Chromosome Location	chr16:75277780-75277781
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	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:75277574-75279910	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr16:75277507-75280033	IMR90	lung:	n/a	chr16:75279563-75279570 chr16:75279562-75279571 chr16:75279003-75279013 chr16:75279620-75279630 chr16:75279561-75279571 chr16:75279553-75279569 chr16:75279390-75279400 chr16:75279562-75279571 chr16:75279682-75279692 chr16:75279561-75279572 chr16:75279561-75279572
4	POLR2A	chr16:75277489-75278108	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
6	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr16:75277535-75278199	A549	lung:	n/a	n/a
8	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:75277606-75278610	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr16:75277422-75283340	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr16:75277612-75278728	HUVEC	blood vessel:	n/a	n/a
12	SMARCB1	chr16:75277635-75279766	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:75277755-75277989	K562	blood:	n/a	n/a
14	POLR2A	chr16:75277510-75277784	A549	lung:	n/a	n/a
15	POLR2A	chr16:75277600-75281701	HepG2	liver:	n/a	n/a
16	POLR2A	chr16:75277681-75279836	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:75277765-75281238	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr16:75277635-75278155	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
2	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
3	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:

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	0.91[ASN][1000 genomes]
rs11645191	0.90[ASN][1000 genomes]
rs13331385	0.90[EUR][1000 genomes]
rs13337017	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13337397	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2287990	0.90[EUR][1000 genomes]
rs28439846	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28595463	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28690217	0.90[EUR][1000 genomes]
rs2870463	0.85[EUR][1000 genomes]
rs3743614	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784939	0.86[ASN][1000 genomes]
rs56787417	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59067758	0.84[ASN][1000 genomes]
rs60470336	0.85[EUR][1000 genomes]
rs60852020	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60879082	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	0.89[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	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8046145	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8048529	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053595	0.85[EUR][1000 genomes]
rs8054218	0.85[EUR][1000 genomes]
rs8063014	0.92[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	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	esv3337404	chr16:75277285-75277834	Enhancers Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 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	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
6	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
10	chr16:75273400-75277800	Weak transcription	Fetal Thymus	thymus
11	chr16:75273400-75278000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:75274000-75277800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:75274000-75278600	Genic enhancers	NHLF	lung
14	chr16:75274200-75277800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr16:75274200-75278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:75274200-75278200	Genic enhancers	HepG2	liver
17	chr16:75274800-75278000	Strong transcription	NHEK	skin
18	chr16:75275200-75278000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:75275400-75278600	Weak transcription	Fetal Kidney	kidney
20	chr16:75275800-75278000	Weak transcription	Fetal Brain Male	brain
21	chr16:75276000-75278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:75276000-75278600	Enhancers	Fetal Heart	heart
23	chr16:75276200-75277800	Strong transcription	Hela-S3	cervix
24	chr16:75276200-75278000	Weak transcription	GM12878-XiMat	blood
25	chr16:75276200-75278600	Weak transcription	K562	blood
26	chr16:75276400-75277800	Weak transcription	HSMMtube	muscle
27	chr16:75276400-75278200	Genic enhancers	Pancreas	Pancrea
28	chr16:75276600-75279200	Weak transcription	Fetal Brain Female	brain
29	chr16:75276600-75279400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:75276800-75278000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:75276800-75278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr16:75276800-75283400	Enhancers	NHDF-Ad	bronchial
33	chr16:75276800-75283800	Enhancers	Left Ventricle	heart
34	chr16:75277000-75277800	Weak transcription	Brain Germinal Matrix	brain
35	chr16:75277000-75277800	Enhancers	Brain Hippocampus Middle	brain
36	chr16:75277000-75278000	Genic enhancers	HUVEC	blood vessel
37	chr16:75277000-75278400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:75277000-75279000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr16:75277000-75279200	Enhancers	Aorta	Aorta
40	chr16:75277000-75280200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:75277000-75280200	Enhancers	Brain Substantia Nigra	brain
42	chr16:75277000-75281400	Enhancers	Brain Angular Gyrus	brain
43	chr16:75277000-75283400	Genic enhancers	Fetal Intestine Small	intestine
44	chr16:75277200-75278000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr16:75277200-75278000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:75277200-75278000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:75277200-75278200	Genic enhancers	HSMM	muscle
48	chr16:75277200-75278200	Enhancers	NH-A	brain
49	chr16:75277200-75278400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:75277200-75278400	Genic enhancers	Muscle Satellite Cultured Cells	--

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