Variant report

Variant	rs192034480
Chromosome Location	chr16:47176223-47176224
allele	C/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	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	STAT3	chr16:47176131-47176632	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr16:47175572-47176904	IMR90	lung:	n/a	n/a
15	BHLHE40	chr16:47175534-47176602	GM12878	blood:	n/a	n/a
16	RFX5	chr16:47175590-47176703	Hela-S3	cervix:	n/a	n/a
17	GATA3	chr16:47175689-47176264	MCF-7	breast:	n/a	chr16:47176006-47176016
18	KAP1	chr16:47175551-47176261	U2OS	brain:	n/a	chr16:47175565-47175573
19	POLR2A	chr16:47175585-47176223	H1-neurons	neurons:	n/a	n/a
20	CHD1	chr16:47175582-47177806	GM12878	blood:	n/a	n/a
21	RCOR1	chr16:47175646-47176239	Hela-S3	cervix:	n/a	n/a
22	SPI1	chr16:47176123-47176762	GM12878	blood:	n/a	chr16:47176547-47176560
23	POLR2A	chr16:47175566-47178230	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr16:47175553-47176755	GM12878	blood:	n/a	n/a
25	MAZ	chr16:47175603-47178442	K562	blood:	n/a	n/a
26	SMC3	chr16:47175405-47179051	SK-N-SH	brain:	n/a	chr16:47177447-47177461 chr16:47177451-47177461
27	NFYA	chr16:47175547-47176499	Hela-S3	cervix:	n/a	n/a
28	JUND	chr16:47175515-47176754	K562	blood:	n/a	chr16:47175559-47175568
29	SIN3A	chr16:47175594-47176607	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:47175689-47176720	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr16:47175593-47178077	GM12878	blood:	n/a	n/a
32	ATF2	chr16:47176142-47176695	GM12878	blood:	n/a	n/a
33	MXI1	chr16:47175597-47178535	GM12878	blood:	n/a	n/a
34	POLR2A	chr16:47175623-47178465	GM19099	blood:	n/a	n/a
35	SMC3	chr16:47175497-47176814	GM12878	blood:	n/a	n/a
36	TCF7L2	chr16:47175634-47176307	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr16:47174718-47179290	SK-N-SH	brain:	n/a	n/a
38	TBL1XR1	chr16:47175606-47176257	K562	blood:	n/a	n/a
39	CREB1	chr16:47176198-47176806	GM12878	blood:	n/a	n/a
40	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
41	RCOR1	chr16:47175529-47176231	GM12878	blood:	n/a	n/a
42	POLR2A	chr16:47175627-47177281	GM12891	blood:	n/a	n/a
43	ARID3A	chr16:47175635-47176566	HepG2	liver:	n/a	n/a
44	CTCF	chr16:47175367-47178983	A549	lung:	n/a	chr16:47177448-47177461 chr16:47177445-47177463
45	CEBPB	chr16:47175718-47176663	K562	blood:	n/a	n/a
46	STAT3	chr16:47175366-47176234	MCF10A-Er-Src	breast:	n/a	n/a

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
ENSG00000171208	Chromatin interaction
ENSG00000069345	Chromatin interaction
ENSG00000129636	Chromatin interaction
ENSG00000102893	Chromatin interaction
ENSG00000121270	Chromatin interaction
ENSG00000261173	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:117 , 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	chr16:47175400-47177200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:47175400-47177200	Active TSS	Fetal Brain Male	brain
10	chr16:47175400-47178400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:47175400-47178400	Active TSS	Brain Anterior Caudate	brain
12	chr16:47175400-47178400	Active TSS	NH-A	brain
13	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr16:47175400-47179000	Active TSS	A549	lung
16	chr16:47175600-47176400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:47175600-47176400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:47175600-47176600	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr16:47175600-47176800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr16:47175600-47176800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:47175600-47177200	Active TSS	Colonic Mucosa	Colon
22	chr16:47175600-47177200	Bivalent/Poised TSS	Fetal Lung	lung
23	chr16:47175600-47177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr16:47175600-47178200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:47175600-47178200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:47175600-47178200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr16:47175600-47178400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:47175600-47178400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:47175600-47178400	Active TSS	Brain Cingulate Gyrus	brain
30	chr16:47175600-47178400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:47175600-47178400	Active TSS	Brain Substantia Nigra	brain
32	chr16:47175600-47178400	Active TSS	Ovary	ovary
33	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:47175600-47178600	Active TSS	NHEK	skin
36	chr16:47175600-47178600	Active TSS	NHLF	lung
37	chr16:47175600-47178600	Active TSS	Osteobl	bone
38	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
40	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
42	chr16:47175800-47176400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr16:47175800-47176400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:47175800-47176400	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr16:47175800-47176600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr16:47175800-47176600	Flanking Active TSS	Liver	Liver
47	chr16:47175800-47176600	Flanking Bivalent TSS/Enh	Pancreatic Islets	Pancreatic Islet
48	chr16:47175800-47176600	Active TSS	Placenta	Placenta
49	chr16:47175800-47176600	Active TSS	Fetal Stomach	stomach
50	chr16:47175800-47176800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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