Variant report

Variant	rs57613349
Chromosome Location	chr16:75284855-75284856
allele	C/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	UBTF	chr16:75284626-75285979	K562	blood:	n/a	n/a
2	POLR2A	chr16:75284655-75285143	ProgFib	skin:	n/a	n/a
3	MAZ	chr16:75284682-75284964	GM12878	blood:	n/a	n/a
4	TAF1	chr16:75284654-75285298	K562	blood:	n/a	n/a
5	POLR2A	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
6	MAZ	chr16:75284610-75285975	K562	blood:	n/a	n/a
7	NRF1	chr16:75284593-75285101	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr16:75284142-75285653	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:75284465-75285955	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:75283441-75286634	HUVEC	blood vessel:	n/a	n/a
11	MAZ	chr16:75284233-75285982	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr16:75284447-75285033	K562	blood:	n/a	n/a
13	RAD21	chr16:75284726-75284887	K562	blood:	n/a	n/a
14	SIN3A	chr16:75284228-75286267	H1-hESC	embryonic stem cell:	n/a	chr16:75285604-75285617 chr16:75285486-75285497 chr16:75286024-75286032
15	E2F6	chr16:75284661-75285994	K562	blood:	n/a	chr16:75285902-75285909 chr16:75285468-75285478 chr16:75285902-75285909 chr16:75285634-75285643 chr16:75285902-75285909 chr16:75284819-75284828 chr16:75285598-75285608 chr16:75285266-75285276
16	RFX5	chr16:75284386-75285289	HepG2	liver:	n/a	n/a
17	CTCF	chr16:75284513-75284882	K562	blood:	n/a	n/a
18	ELF1	chr16:75284538-75284972	HepG2	liver:	n/a	chr16:75284824-75284836
19	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr16:75284171-75285736	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
22	TAF1	chr16:75284679-75285821	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr16:75284805-75285087	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:75284474-75285658	ECC-1	luminal epithelium:	n/a	n/a
25	BHLHE40	chr16:75284275-75285442	HepG2	liver:	n/a	chr16:75284384-75284400 chr16:75284817-75284833
26	POLR2A	chr16:75284794-75285735	GM19099	blood:	n/a	n/a
27	HEY1	chr16:75284453-75285979	HepG2	liver:	n/a	chr16:75284860-75284875 chr16:75285485-75285500 chr16:75285479-75285494 chr16:75285401-75285416 chr16:75285538-75285553 chr16:75285474-75285489 chr16:75285081-75285096 chr16:75285463-75285478 chr16:75285454-75285469
28	FOSL2	chr16:75284200-75286153	HepG2	liver:	n/a	n/a
29	MAX	chr16:75284696-75285992	K562	blood:	n/a	n/a
30	EGR1	chr16:75284649-75285305	K562	blood:	n/a	chr16:75285081-75285091
31	RAD21	chr16:75284260-75286113	SK-N-SH	brain:	n/a	chr16:75285346-75285360 chr16:75284722-75284735
32	TAF1	chr16:75284527-75285188	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr16:75284812-75285026	K562	blood:	n/a	n/a
34	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
35	JUND	chr16:75284682-75285053	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
37	ELF1	chr16:75284629-75285000	K562	blood:	n/a	chr16:75284824-75284836
38	SMC3	chr16:75284807-75285416	Hela-S3	cervix:	n/a	chr16:75285349-75285359
39	POLR2A	chr16:75284340-75285685	MCF10A-Er-Src	breast:	n/a	n/a
40	HEY1	chr16:75284284-75285642	HepG2	liver:	n/a	chr16:75284860-75284875 chr16:75285485-75285500 chr16:75285479-75285494 chr16:75285401-75285416 chr16:75285538-75285553 chr16:75285474-75285489 chr16:75285081-75285096 chr16:75285463-75285478 chr16:75285454-75285469
41	POLR2A	chr16:75284691-75285037	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr16:75284236-75285338	HepG2	liver:	n/a	n/a
43	ETS1	chr16:75284634-75285565	K562	blood:	n/a	n/a
44	MAX	chr16:75284786-75285739	Hela-S3	cervix:	n/a	n/a
45	PAX5	chr16:75284566-75284904	GM12892	blood:	n/a	chr16:75284800-75284819
46	HMGN3	chr16:75284524-75285892	K562	blood:	n/a	n/a
47	ARID3A	chr16:75284754-75284989	HepG2	liver:	n/a	n/a
48	JUND	chr16:75284773-75284960	HepG2	liver:	n/a	n/a
49	MAX	chr16:75284512-75286198	A549	lung:	n/a	n/a
50	TAF1	chr16:75284590-75286116	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
2	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
3	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
4	chr16:75259564..75261896-chr16:75284703..75287235,2	K562	blood:
5	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:
6	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
7	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
8	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
9	chr15:65808939..65809923-chr16:75284799..75285585,2	Hela-S3	cervix:
10	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
11	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
12	chr1:117601739..117602655-chr16:75284708..75285399,2	NB4	blood:
13	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
14	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000252101	Chromatin interaction
ENSG00000236137	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000074603	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000240338	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000168928	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2059249	0.87[ASN][1000 genomes]
rs2278020	0.85[ASN][1000 genomes]
rs28564254	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36097424	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3743613	0.87[ASN][1000 genomes]
rs4887810	0.80[ASN][1000 genomes]
rs8046743	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][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	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75283200-75285000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr16:75283200-75285400	Active TSS	HSMMtube	muscle
3	chr16:75283600-75285400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:75283600-75286200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:75283800-75285000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr16:75283800-75285200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:75283800-75285200	Active TSS	Fetal Kidney	kidney
8	chr16:75283800-75285800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr16:75283800-75285800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:75283800-75285800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr16:75284000-75285000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:75284000-75285000	Bivalent/Poised TSS	Thymus	Thymus
13	chr16:75284000-75285200	Bivalent/Poised TSS	HepG2	liver
14	chr16:75284000-75285800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:75284000-75285800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:75284000-75285800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:75284000-75285800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr16:75284000-75285800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr16:75284000-75285800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:75284000-75285800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:75284000-75285800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr16:75284000-75285800	Active TSS	Brain Angular Gyrus	brain
23	chr16:75284000-75285800	Active TSS	Duodenum Mucosa	Duodenum
24	chr16:75284000-75285800	Active TSS	Esophagus	oesophagus
25	chr16:75284000-75285800	Active TSS	Pancreas	Pancrea
26	chr16:75284000-75285800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr16:75284000-75285800	Active TSS	HSMM	muscle
28	chr16:75284000-75285800	Active TSS	HUVEC	blood vessel
29	chr16:75284000-75285800	Active TSS	NHLF	lung
30	chr16:75284000-75286000	Active TSS	Aorta	Aorta
31	chr16:75284200-75285000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:75284200-75285000	Flanking Active TSS	GM12878-XiMat	blood
33	chr16:75284200-75285200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr16:75284200-75285400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr16:75284200-75285400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:75284200-75285400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr16:75284200-75285600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:75284200-75285600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:75284200-75285600	Active TSS	Gastric	stomach
40	chr16:75284200-75285600	Active TSS	Lung	lung
41	chr16:75284200-75285600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
42	chr16:75284200-75285800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr16:75284200-75285800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr16:75284200-75285800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr16:75284200-75285800	Active TSS	Brain Substantia Nigra	brain
46	chr16:75284200-75285800	Active TSS	Psoas Muscle	Psoas
47	chr16:75284200-75285800	Active TSS	Rectal Smooth Muscle	rectum
48	chr16:75284200-75285800	Active TSS	A549	lung
49	chr16:75284200-75285800	Active TSS	Hela-S3	cervix
50	chr16:75284200-75285800	Active TSS	NH-A	brain

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