Variant report

Variant	rs568908263
Chromosome Location	chr16:47176172-47176173
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	CTCF	chr16:47175382-47176311	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr16:47175401-47176234	HCT-116	colon:	n/a	n/a
3	TBP	chr16:47175502-47176718	GM12878	blood:	n/a	n/a
4	RAD21	chr16:47175560-47176794	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:47175677-47176237	GM12892	blood:	n/a	n/a
6	CEBPB	chr16:47175607-47176698	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:47175539-47176653	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr16:47175631-47176657	MCF10A-Er-Src	breast:	n/a	n/a
9	PML	chr16:47175458-47176903	GM12878	blood:	n/a	chr16:47175565-47175573
10	MTA3	chr16:47175515-47176257	GM12878	blood:	n/a	n/a
11	REST	chr16:47175483-47178634	H1-neurons	neurons:	n/a	chr16:47177413-47177431 chr16:47177457-47177470 chr16:47177335-47177348 chr16:47177460-47177473 chr16:47176824-47176837 chr16:47178145-47178158 chr16:47175934-47175954 chr16:47178154-47178167 chr16:47177184-47177197
12	CTCF	chr16:47175410-47176252	HCT-116	colon:	n/a	n/a
13	STAT5A	chr16:47175515-47176211	GM12878	blood:	n/a	n/a
14	STAT3	chr16:47176131-47176632	MCF10A-Er-Src	breast:	n/a	n/a
15	RAD21	chr16:47175572-47176904	IMR90	lung:	n/a	n/a
16	BHLHE40	chr16:47175534-47176602	GM12878	blood:	n/a	n/a
17	RFX5	chr16:47175590-47176703	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr16:47175689-47176264	MCF-7	breast:	n/a	chr16:47176006-47176016
19	KAP1	chr16:47175551-47176261	U2OS	brain:	n/a	chr16:47175565-47175573
20	CUX1	chr16:47175484-47176177	K562	blood:	n/a	chr16:47175512-47175523
21	POLR2A	chr16:47175585-47176223	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr16:47175513-47176197	K562	blood:	n/a	n/a
23	BCLAF1	chr16:47175480-47176190	GM12878	blood:	n/a	n/a
24	CHD1	chr16:47175582-47177806	GM12878	blood:	n/a	n/a
25	RCOR1	chr16:47175646-47176239	Hela-S3	cervix:	n/a	n/a
26	SPI1	chr16:47176123-47176762	GM12878	blood:	n/a	chr16:47176547-47176560
27	POLR2A	chr16:47175566-47178230	GM12878	blood:	n/a	n/a
28	ARID3A	chr16:47175602-47176202	K562	blood:	n/a	n/a
29	BHLHE40	chr16:47175636-47176200	K562	blood:	n/a	n/a
30	TBL1XR1	chr16:47175553-47176755	GM12878	blood:	n/a	n/a
31	MAZ	chr16:47175603-47178442	K562	blood:	n/a	n/a
32	SMC3	chr16:47175405-47179051	SK-N-SH	brain:	n/a	chr16:47177447-47177461 chr16:47177451-47177461
33	NFYA	chr16:47175547-47176499	Hela-S3	cervix:	n/a	n/a
34	JUND	chr16:47175515-47176754	K562	blood:	n/a	chr16:47175559-47175568
35	SIN3A	chr16:47175594-47176607	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr16:47175689-47176720	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr16:47175593-47178077	GM12878	blood:	n/a	n/a
38	ATF2	chr16:47176142-47176695	GM12878	blood:	n/a	n/a
39	MXI1	chr16:47175597-47178535	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:47175623-47178465	GM19099	blood:	n/a	n/a
41	SMC3	chr16:47175497-47176814	GM12878	blood:	n/a	n/a
42	TCF7L2	chr16:47175634-47176307	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr16:47174718-47179290	SK-N-SH	brain:	n/a	n/a
44	TBL1XR1	chr16:47175606-47176257	K562	blood:	n/a	n/a
45	RAD21	chr16:47175286-47178918	SK-N-SH	brain:	n/a	chr16:47177449-47177462 chr16:47177191-47177204 chr16:47177451-47177461 chr16:47177447-47177461 chr16:47177451-47177463 chr16:47176951-47176965 chr16:47177446-47177465
46	RCOR1	chr16:47175529-47176231	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:47175627-47177281	GM12891	blood:	n/a	n/a
48	MYC	chr16:47175605-47176187	K562	blood:	n/a	n/a
49	ARID3A	chr16:47175635-47176566	HepG2	liver:	n/a	n/a
50	CTCF	chr16:47175367-47178983	A549	lung:	n/a	chr16:47177448-47177461 chr16:47177445-47177463

No.	Distal block	Cell Line	Cell type
1	chr16:47174790..47177797-chr16:47493413..47496816,5	K562	blood:
2	chr16:47175296..47177509-chr16:48190040..48191217,7	MCF-7	breast:
3	chr16:47006185..47008137-chr16:47174529..47176605,2	K562	blood:
4	chr16:47071376..47072506-chr16:47175620..47176296,3	K562	blood:
5	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
6	chr16:47155510..47158192-chr16:47174850..47176528,2	K562	blood:
7	chr16:47174837..47177337-chr16:47189035..47191316,2	K562	blood:
8	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
9	chr16:47175627..47176240-chr16:48199483..48200032,2	MCF-7	breast:
10	chr16:47175322..47176299-chr16:48190360..48191104,3	K562	blood:

Variant related genes	Relation type
ENSG00000260281	TF binding region
ENSG00000102893	Chromatin interaction
ENSG00000171208	Chromatin interaction
ENSG00000069345	Chromatin interaction
ENSG00000261173	Chromatin interaction
ENSG00000129636	Chromatin interaction
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active 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	28 gene(s)	inside rSNPs	diseases
6	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	esv1840592	chr16:47171333-47177650	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	esv3394603	chr16:47175976-47179024	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47174200-47178400	Active TSS	GM12878-XiMat	blood
2	chr16:47174600-47178800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:47174600-47178800	Active TSS	Fetal Brain Female	brain
4	chr16:47174800-47178400	Active TSS	Brain Germinal Matrix	brain
5	chr16:47175000-47178200	Active TSS	HMEC	breast
6	chr16:47175000-47178800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr16:47175200-47178600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:47175400-47176200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:47175400-47177200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:47175400-47177200	Active TSS	Fetal Brain Male	brain
11	chr16:47175400-47178400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:47175400-47178400	Active TSS	Brain Anterior Caudate	brain
13	chr16:47175400-47178400	Active TSS	NH-A	brain
14	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr16:47175400-47179000	Active TSS	A549	lung
17	chr16:47175600-47176200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr16:47175600-47176200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr16:47175600-47176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:47175600-47176400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:47175600-47176600	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr16:47175600-47176800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr16:47175600-47176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:47175600-47177200	Active TSS	Colonic Mucosa	Colon
25	chr16:47175600-47177200	Bivalent/Poised TSS	Fetal Lung	lung
26	chr16:47175600-47177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr16:47175600-47178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:47175600-47178200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:47175600-47178200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr16:47175600-47178400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:47175600-47178400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:47175600-47178400	Active TSS	Brain Cingulate Gyrus	brain
33	chr16:47175600-47178400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:47175600-47178400	Active TSS	Brain Substantia Nigra	brain
35	chr16:47175600-47178400	Active TSS	Ovary	ovary
36	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:47175600-47178600	Active TSS	NHEK	skin
39	chr16:47175600-47178600	Active TSS	NHLF	lung
40	chr16:47175600-47178600	Active TSS	Osteobl	bone
41	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
43	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
45	chr16:47175800-47176200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:47175800-47176200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr16:47175800-47176200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr16:47175800-47176200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
49	chr16:47175800-47176200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr16:47175800-47176200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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