Variant report

Variant	rs59078000
Chromosome Location	chr16:31117048-31117049
allele	A/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	SP1	chr16:31117024-31117517	HepG2	liver:	n/a	chr16:31117487-31117494
2	MAX	chr16:31117046-31117530	ECC-1	luminal epithelium:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
3	CTCF	chr16:31117036-31117234	SK-N-SH_RA	brain:	n/a	chr16:31117126-31117139
4	CTCF	chr16:31117006-31117343	K562	blood:	n/a	chr16:31117126-31117139
5	CTCF	chr16:31117041-31117269	ProgFib	skin:	n/a	chr16:31117126-31117139
6	BHLHE40	chr16:31117045-31117426	GM12878	blood:	n/a	chr16:31117125-31117141
7	POU2F2	chr16:31117020-31117297	GM12878	blood:	n/a	n/a
8	CTCF	chr16:31117040-31117190	GM12865	blood:	n/a	chr16:31117126-31117139
9	ATF3	chr16:31117023-31117527	HepG2	liver:	n/a	n/a
10	CTCF	chr16:31117025-31117259	GM10248	blood:	n/a	chr16:31117126-31117139
11	JUN	chr16:31117041-31117546	K562	blood:	n/a	n/a
12	MAX	chr16:31117028-31117503	K562	blood:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
13	CTCF	chr16:31117021-31117253	HepG2	liver:	n/a	chr16:31117126-31117139
14	MYC	chr16:31117017-31117457	Hela-S3	cervix:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
15	MAX	chr16:31117044-31117515	H1-hESC	embryonic stem cell:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
16	RAD21	chr16:31116967-31117407	H1-hESC	embryonic stem cell:	n/a	chr16:31117126-31117139
17	RAD21	chr16:31117018-31117391	MCF-7	breast:	n/a	chr16:31117126-31117139
18	CTCF	chr16:31117018-31117295	GM13977	blood:	n/a	chr16:31117126-31117139
19	CTCF	chr16:31117027-31117294	MCF-7	breast:	n/a	chr16:31117126-31117139
20	YY1	chr16:31117039-31117454	K562	blood:	n/a	chr16:31117255-31117264
21	MYC	chr16:31117032-31117292	MCF10A-Er-Src	breast:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
22	MYC	chr16:31117042-31117475	K562	blood:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
23	CTCF	chr16:31116959-31117405	K562	blood:	n/a	chr16:31117126-31117139
24	MAX	chr16:31117045-31117622	HepG2	liver:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
25	CTCF	chr16:31116947-31117260	A549	lung:	n/a	chr16:31117126-31117139
26	CTCF	chr16:31117028-31117310	MCF-7	breast:	n/a	chr16:31117126-31117139
27	CTCF	chr16:31116937-31117353	GM12878	blood:	n/a	chr16:31117126-31117139
28	CTCF	chr16:31117020-31117315	GM12892	blood:	n/a	chr16:31117126-31117139
29	ZBTB7A	chr16:31117014-31117356	K562	blood:	n/a	n/a
30	CTCF	chr16:31117040-31117190	MCF-7	breast:	n/a	chr16:31117126-31117139
31	RAD21	chr16:31117016-31117464	ECC-1	luminal epithelium:	n/a	chr16:31117126-31117139
32	FOSL2	chr16:31116934-31117459	HepG2	liver:	n/a	n/a
33	ZNF384	chr16:31116950-31117414	K562	blood:	n/a	n/a
34	E2F6	chr16:31117035-31117500	K562	blood:	n/a	chr16:31117346-31117358 chr16:31117129-31117139 chr16:31117393-31117403
35	MAX	chr16:31117034-31117549	K562	blood:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
36	RAD21	chr16:31117032-31117435	A549	lung:	n/a	chr16:31117126-31117139
37	RAD21	chr16:31117039-31117525	HCT-116	colon:	n/a	chr16:31117126-31117139
38	MAX	chr16:31116999-31117491	NB4	blood:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
39	RAD21	chr16:31116992-31117362	Hela-S3	cervix:	n/a	chr16:31117126-31117139
40	MYC	chr16:31117006-31117381	MCF10A-Er-Src	breast:	n/a	chr16:31117262-31117271 chr16:31117261-31117272
41	CTCF	chr16:31117031-31117292	SK-N-SH_RA	brain:	n/a	chr16:31117126-31117139
42	TCF12	chr16:31117033-31117244	H1-hESC	embryonic stem cell:	n/a	chr16:31117132-31117142
43	EP300	chr16:31116974-31117583	HepG2	liver:	n/a	chr16:31117123-31117139 chr16:31117125-31117141 chr16:31117126-31117142
44	PAX5	chr16:31116933-31117287	GM12878	blood:	n/a	n/a
45	TCF12	chr16:31117017-31117493	HepG2	liver:	n/a	chr16:31117132-31117142
46	EGR1	chr16:31117018-31117333	K562	blood:	n/a	chr16:31117225-31117239
47	NFIC	chr16:31117028-31117637	HepG2	liver:	n/a	n/a
48	RAD21	chr16:31116995-31117402	MCF-7	breast:	n/a	chr16:31117126-31117139
49	HDAC2	chr16:31117022-31117555	HepG2	liver:	n/a	n/a
50	EP300	chr16:31117031-31117429	SK-N-SH_RA	brain:	n/a	chr16:31117123-31117139 chr16:31117125-31117141 chr16:31117126-31117142

No.	Distal block	Cell Line	Cell type
1	chr16:31019698..31020313-chr16:31116647..31117188,2	K562	blood:
2	chr16:31115604..31117251-chr16:31191092..31192693,2	K562	blood:
3	chr16:31115598..31118169-chr16:31120150..31122491,2	K562	blood:
4	chr16:31116671..31117702-chr16:31153398..31154356,8	MCF-7	breast:
5	chr16:31106585..31108888-chr16:31114847..31117269,2	K562	blood:
6	chr16:31115598..31117227-chr16:31119592..31121650,2	K562	blood:
7	chr16:31115663..31117311-chr16:31152701..31155133,2	K562	blood:
8	chr16:31115614..31117488-chr16:31191253..31194151,3	MCF-7	breast:

Variant related genes	Relation type
BCKDK	TF binding region
ENSG00000252809	TF binding region
ENSG00000178226	Chromatin interaction
ENSG00000167397	Chromatin interaction
ENSG00000103507	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17878544	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2077633	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8049043	0.86[AMR][1000 genomes];0.89[EUR][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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	35 gene(s)	inside rSNPs	diseases
15	esv3377881	chr16:31114651-31117399	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31106800-31117200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31107400-31117200	Weak transcription	NHLF	lung
3	chr16:31111800-31117200	Weak transcription	NH-A	brain
4	chr16:31112400-31117200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:31112600-31117200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:31112600-31117200	Weak transcription	Osteobl	bone
7	chr16:31112800-31119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:31113000-31119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:31113600-31117200	Weak transcription	HepG2	liver
10	chr16:31114600-31119400	Weak transcription	Lung	lung
11	chr16:31116400-31119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr16:31116800-31117200	Weak transcription	Right Atrium	heart
13	chr16:31116800-31117200	Active TSS	GM12878-XiMat	blood
14	chr16:31117000-31117200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:31117000-31117200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr16:31117000-31117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:31117000-31117200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:31117000-31117200	Active TSS	Brain Angular Gyrus	brain
19	chr16:31117000-31117200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:31117000-31117200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr16:31117000-31117200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr16:31117000-31117200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr16:31117000-31117200	Active TSS	Hela-S3	cervix
24	chr16:31117000-31117200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr16:31117000-31117400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:31117000-31117400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr16:31117000-31117400	Enhancers	HMEC	breast
28	chr16:31117000-31117400	Flanking Active TSS	K562	blood
29	chr16:31117000-31117600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:31117000-31117600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:31117000-31117600	Enhancers	Primary B cells from peripheral blood	blood
32	chr16:31117000-31117600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr16:31117000-31117600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr16:31117000-31117600	Enhancers	Fetal Muscle Trunk	muscle
35	chr16:31117000-31117600	Enhancers	Placenta	Placenta

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