Variant report

Variant	rs565566874
Chromosome Location	chr16:46722133-46722134
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	MAX	chr16:46722104-46724407	A549	lung:	n/a	chr16:46723128-46723138 chr16:46723102-46723111 chr16:46722716-46722732
2	SPI1	chr16:46722011-46722534	HL-60	blood:	n/a	chr16:46722256-46722269
3	MXI1	chr16:46721916-46725345	IMR90	lung:	n/a	n/a
4	RUNX3	chr16:46722103-46723734	GM12878	blood:	n/a	n/a
5	MTA3	chr16:46721999-46723587	GM12878	blood:	n/a	n/a
6	TAF1	chr16:46722107-46723657	H1-neurons	neurons:	n/a	n/a
7	TBL1XR1	chr16:46722034-46722662	K562	blood:	n/a	n/a
8	CTCF	chr16:46721875-46724765	A549	lung:	n/a	chr16:46724359-46724367
9	POLR2A	chr16:46721852-46724189	MCF10A-Er-Src	breast:	n/a	n/a
10	MAZ	chr16:46721784-46725197	IMR90	lung:	n/a	chr16:46723128-46723138 chr16:46723102-46723111 chr16:46722716-46722732
11	ELF1	chr16:46722074-46722690	K562	blood:	n/a	n/a
12	RCOR1	chr16:46722119-46723545	K562	blood:	n/a	n/a
13	MXI1	chr16:46722133-46724195	GM12878	blood:	n/a	n/a
14	MXI1	chr16:46721259-46725435	SK-N-SH	brain:	n/a	n/a
15	PML	chr16:46721948-46724509	GM12878	blood:	n/a	n/a
16	STAT5A	chr16:46722048-46723178	GM12878	blood:	n/a	chr16:46722469-46722478 chr16:46722470-46722479 chr16:46722850-46722862
17	TEAD4	chr16:46722065-46722780	K562	blood:	n/a	n/a
18	HCFC1	chr16:46721782-46724824	Hela-S3	cervix:	n/a	n/a
19	ATF2	chr16:46722080-46722641	GM12878	blood:	n/a	n/a
20	MAX	chr16:46722081-46724363	NB4	blood:	n/a	chr16:46723128-46723138 chr16:46723102-46723111 chr16:46722716-46722732
21	REST	chr16:46721911-46724661	H1-neurons	neurons:	n/a	chr16:46723072-46723082 chr16:46723288-46723301
22	POLR2A	chr16:46721977-46723997	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46713745..46716784-chr16:46720254..46722290,3	K562	blood:
2	chr16:46720929..46723857-chr16:46796007..46798416,2	MCF-7	breast:
3	chr16:46707772..46709754-chr16:46720793..46723011,2	MCF-7	breast:
4	chr16:46721087..46725989-chr16:46862740..46865236,7	K562	blood:
5	chr16:46721417..46725620-chr16:46861860..46865482,8	K562	blood:
6	chr16:46653721..46656886-chr16:46721851..46724551,4	K562	blood:
7	chr16:46711146..46713693-chr16:46721499..46723929,2	K562	blood:
8	chr16:46715468..46717180-chr16:46722050..46724165,2	MCF-7	breast:
9	chr16:46721631..46724836-chr16:46779909..46784170,7	K562	blood:
10	chr16:46713745..46716784-chr16:46720254..46722290,4	K562	blood:
11	chr16:46681844..46684169-chr16:46721518..46723822,2	K562	blood:
12	chr16:46721630..46725552-chr16:46779076..46784170,6	K562	blood:

Variant related genes	Relation type
ORC6	TF binding region
VPS35	TF binding region
ENSG00000155330	Chromatin interaction
ENSG00000171241	Chromatin interaction
ENSG00000069329	Chromatin interaction
ENSG00000140795	Chromatin interaction
ENSG00000260909	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking 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	38 gene(s)	inside rSNPs	diseases
4	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
8	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv572536	chr16:46694649-46727385	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv1799771	chr16:46705343-46731413	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv1792701	chr16:46709686-46751452	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv1059598	chr16:46721805-46762219	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv542913	chr16:46721805-46762219	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv1064272	chr16:46721805-46768134	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv542914	chr16:46721805-46768134	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
21	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
22	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
25	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46702600-46722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46705800-46722200	Weak transcription	Aorta	Aorta
3	chr16:46718200-46722200	Weak transcription	Small Intestine	intestine
4	chr16:46720000-46724200	Active TSS	Fetal Intestine Large	intestine
5	chr16:46720400-46722200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:46720400-46722200	Flanking Active TSS	Dnd41	blood
7	chr16:46720600-46722200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:46720600-46722200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr16:46720600-46722200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr16:46720600-46722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr16:46720600-46724200	Active TSS	Fetal Intestine Small	intestine
12	chr16:46720800-46722200	Flanking Active TSS	Fetal Brain Male	brain
13	chr16:46721000-46722200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr16:46721000-46722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr16:46721000-46724800	Active TSS	NHDF-Ad	bronchial
16	chr16:46721000-46725000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:46721200-46722200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:46721200-46722200	Flanking Active TSS	Fetal Brain Female	brain
19	chr16:46721200-46722200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr16:46721200-46722400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:46721200-46722400	Flanking Active TSS	HUVEC	blood vessel
22	chr16:46721200-46722600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:46721200-46722600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr16:46721200-46724600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:46721200-46725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:46721200-46725600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:46721400-46722200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:46721400-46722200	Flanking Active TSS	Fetal Heart	heart
29	chr16:46721400-46722200	Flanking Active TSS	Fetal Lung	lung
30	chr16:46721400-46722200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr16:46721400-46722200	Flanking Active TSS	Osteobl	bone
32	chr16:46721400-46722400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr16:46721400-46722400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr16:46721400-46722400	Flanking Active TSS	Hela-S3	cervix
35	chr16:46721400-46722600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr16:46721400-46722800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr16:46721400-46722800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr16:46721400-46722800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr16:46721400-46724000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:46721400-46724800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr16:46721400-46724800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:46721400-46725800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:46721600-46722200	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr16:46721600-46722200	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr16:46721600-46722400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr16:46721600-46722400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:46721600-46722600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr16:46721600-46722600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:46721600-46722600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr16:46721600-46722600	Flanking Active TSS	Liver	Liver

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