Variant report

Variant	rs568126700
Chromosome Location	chr16:47599630-47599631
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	POLR2A	chr16:47599490-47599690	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr16:47599630-47599692	Lung_OC	lung:	n/a	n/a
3	CEBPB	chr16:47599458-47599746	IMR90	lung:	n/a	n/a
4	FOS	chr16:47599374-47599719	MCF10A-Er-Src	breast:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
5	POLR2A	chr16:47599420-47599681	K562	blood:	n/a	n/a
6	FOS	chr16:47599379-47599745	MCF10A-Er-Src	breast:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
7	GABPA	chr16:47599271-47599791	HL-60	blood:	n/a	n/a
8	STAT3	chr16:47599491-47599684	MCF10A-Er-Src	breast:	n/a	chr16:47599549-47599558
9	MAX	chr16:47599478-47599730	SK-N-SH	brain:	n/a	n/a
10	JUN	chr16:47599370-47599731	HUVEC	blood vessel:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
11	MYC	chr16:47599357-47599706	NB4	blood:	n/a	n/a
12	GABPA	chr16:47599307-47599811	HL-60	blood:	n/a	n/a
13	GABPA	chr16:47599433-47599666	GM12878	blood:	n/a	n/a
14	MAX	chr16:47599350-47599750	NB4	blood:	n/a	n/a
15	FOS	chr16:47599370-47599703	HUVEC	blood vessel:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
16	MYC	chr16:47599389-47599726	MCF10A-Er-Src	breast:	n/a	n/a
17	NFIC	chr16:47599292-47599811	GM12878	blood:	n/a	chr16:47599709-47599737
18	POLR2A	chr16:47599319-47599796	HL-60	blood:	n/a	n/a
19	MAX	chr16:47599365-47599679	K562	blood:	n/a	n/a
20	POLR2A	chr16:47599285-47599779	HUVEC	blood vessel:	n/a	n/a
21	FOS	chr16:47599381-47599743	MCF10A-Er-Src	breast:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
22	STAT3	chr16:47599472-47599672	MCF10A-Er-Src	breast:	n/a	chr16:47599477-47599488 chr16:47599549-47599558
23	SPI1	chr16:47599316-47599776	HL-60	blood:	n/a	n/a
24	CREB1	chr16:47599444-47599753	GM12878	blood:	n/a	n/a
25	GABPA	chr16:47599451-47599697	K562	blood:	n/a	n/a
26	BATF	chr16:47599350-47599772	GM12878	blood:	n/a	chr16:47599551-47599561 chr16:47599546-47599557 chr16:47599547-47599557
27	GABPA	chr16:47599354-47599678	A549	lung:	n/a	n/a
28	MYC	chr16:47599379-47599690	MCF10A-Er-Src	breast:	n/a	n/a
29	JUND	chr16:47599475-47599671	HepG2	liver:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
30	RUNX3	chr16:47599327-47599773	GM12878	blood:	n/a	n/a
31	JUND	chr16:47599376-47599758	K562	blood:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559
32	POLR2A	chr16:47599484-47599680	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr16:47599601-47599653	A549	lung:	n/a	n/a
34	ETS1	chr16:47599324-47599739	GM12878	blood:	n/a	chr16:47599553-47599564 chr16:47599551-47599565 chr16:47599553-47599566 chr16:47599553-47599568 chr16:47599514-47599530 chr16:47599556-47599565
35	GABPA	chr16:47599445-47599739	K562	blood:	n/a	n/a
36	RUNX3	chr16:47599330-47599786	GM12878	blood:	n/a	n/a
37	FOS	chr16:47599389-47599744	MCF10A-Er-Src	breast:	n/a	chr16:47599548-47599560 chr16:47599550-47599557 chr16:47599549-47599558 chr16:47599548-47599559 chr16:47599549-47599559 chr16:47599549-47599559 chr16:47599550-47599559

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47594118..47597140-chr16:47598345..47602068,5	K562	blood:

Variant related genes	Relation type
ENSG00000259866	TF binding region
ENSG00000259866	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
10	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv974811	chr16:47599013-47613849	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
2	chr16:47581000-47615800	Weak transcription	Placenta	Placenta
3	chr16:47581000-47624200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:47581200-47624600	Weak transcription	Colonic Mucosa	Colon
5	chr16:47581200-47627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:47581800-47621400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:47582000-47608200	Weak transcription	Fetal Thymus	thymus
9	chr16:47582000-47624200	Weak transcription	Fetal Kidney	kidney
10	chr16:47582200-47625000	Weak transcription	Fetal Heart	heart
11	chr16:47584600-47600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:47584600-47604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:47584600-47607000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:47584600-47624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:47584600-47624400	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:47584800-47601800	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:47584800-47622600	Weak transcription	Brain Angular Gyrus	brain
18	chr16:47586200-47605800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr16:47586800-47600600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:47588000-47607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:47588200-47599800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:47588200-47599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:47588200-47606600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr16:47588200-47622600	Weak transcription	Fetal Lung	lung
25	chr16:47588400-47599800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:47588400-47605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:47588400-47608400	Weak transcription	Thymus	Thymus
28	chr16:47588400-47622600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr16:47588600-47615200	Weak transcription	Liver	Liver
30	chr16:47588600-47615800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr16:47588600-47622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:47588600-47622600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr16:47588800-47605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:47588800-47606400	Weak transcription	Lung	lung
35	chr16:47588800-47607200	Weak transcription	Esophagus	oesophagus
36	chr16:47588800-47607200	Weak transcription	Pancreas	Pancrea
37	chr16:47588800-47624600	Weak transcription	Gastric	stomach
38	chr16:47589400-47601400	Weak transcription	Dnd41	blood
39	chr16:47589400-47622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:47594200-47600400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:47594600-47605400	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:47596400-47599800	Weak transcription	Fetal Brain Female	brain
43	chr16:47596600-47605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:47596600-47627200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:47596800-47600800	Weak transcription	Brain Anterior Caudate	brain
46	chr16:47597000-47599800	Weak transcription	Primary B cells from cord blood	blood
47	chr16:47597000-47605400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:47597200-47605200	Weak transcription	HepG2	liver
49	chr16:47597200-47622600	Weak transcription	HSMMtube	muscle
50	chr16:47597600-47600600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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