Variant report

Variant	rs7200023
Chromosome Location	chr16:47500545-47500546
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	STAT3	chr16:47500391-47500716	MCF10A-Er-Src	breast:	n/a	chr16:47500677-47500685
2	IRF1	chr16:47499579-47500614	K562	blood:	n/a	chr16:47499862-47499879 chr16:47499861-47499874 chr16:47499862-47499874 chr16:47499863-47499874 chr16:47499861-47499874 chr16:47499863-47499877 chr16:47499859-47499873 chr16:47499863-47499873 chr16:47499862-47499874
3	ZMIZ1	chr16:47500526-47500677	K562	blood:	n/a	n/a
4	ARID3A	chr16:47500293-47502483	K562	blood:	n/a	n/a
5	EP300	chr16:47500330-47500934	K562	blood:	n/a	n/a
6	IRF1	chr16:47499698-47500988	K562	blood:	n/a	chr16:47499862-47499879 chr16:47499861-47499874 chr16:47499862-47499874 chr16:47499863-47499874 chr16:47499861-47499874 chr16:47499863-47499877 chr16:47499859-47499873 chr16:47499863-47499873 chr16:47499862-47499874

No.	Distal block	Cell Line	Cell type
1	chr16:47416227..47418087-chr16:47500282..47502102,2	K562	blood:
2	chr16:47500342..47506721-chr16:47514207..47520673,8	K562	blood:
3	chr16:47487581..47489813-chr16:47498979..47501357,2	K562	blood:
4	chr16:47494278..47496656-chr16:47499941..47502861,2	MCF-7	breast:
5	chr16:47500040..47503767-chr16:47514818..47518136,4	K562	blood:
6	chr16:47177492..47179325-chr16:47500185..47502883,2	K562	blood:

Variant related genes	Relation type
ITFG1	TF binding region
ENSG00000129636	Chromatin interaction
ENSG00000102893	Chromatin interaction
ENSG00000260281	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1592541	1.00[AMR][1000 genomes]
rs16945398	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945402	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16945483	1.00[AMR][1000 genomes]
rs16945540	1.00[AMR][1000 genomes]
rs16953792	1.00[AMR][1000 genomes]
rs16953990	1.00[AMR][1000 genomes]
rs16954079	1.00[AMR][1000 genomes]
rs16955741	1.00[AMR][1000 genomes]
rs7205285	1.00[AMR][1000 genomes]
rs7205849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8044898	0.81[AFR][1000 genomes]
rs8049167	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs8054041	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058408	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061091	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9745409	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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
5	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
6	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
7	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
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
9	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	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
11	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
12	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496000-47502200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:47496200-47501400	Enhancers	Fetal Heart	heart
3	chr16:47496200-47501400	Weak transcription	Fetal Intestine Small	intestine
4	chr16:47496200-47501400	Weak transcription	Stomach Mucosa	stomach
5	chr16:47496200-47501600	Weak transcription	Gastric	stomach
6	chr16:47496200-47503200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:47496200-47515000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:47496200-47526400	Weak transcription	Pancreas	Pancrea
9	chr16:47496200-47532000	Weak transcription	Ovary	ovary
10	chr16:47496200-47538400	Weak transcription	NH-A	brain
11	chr16:47496400-47500800	Weak transcription	HSMM	muscle
12	chr16:47496400-47506200	Weak transcription	Fetal Thymus	thymus
13	chr16:47496400-47512000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:47496400-47523400	Weak transcription	Fetal Lung	lung
15	chr16:47496600-47509800	Weak transcription	Lung	lung
16	chr16:47496600-47522600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:47497000-47522400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:47497200-47511400	Weak transcription	NHLF	lung
19	chr16:47497200-47515600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:47497200-47521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr16:47497800-47502200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:47497800-47509800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:47498200-47509800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:47498200-47517600	Weak transcription	A549	lung
25	chr16:47498200-47527800	Weak transcription	Small Intestine	intestine
26	chr16:47498400-47501200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:47498400-47501400	Enhancers	Brain Hippocampus Middle	brain
28	chr16:47498400-47504200	Weak transcription	Aorta	Aorta
29	chr16:47498400-47509400	Weak transcription	Osteobl	bone
30	chr16:47498400-47521400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:47498400-47521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:47498400-47526000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:47498600-47501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:47498600-47501400	Weak transcription	Right Atrium	heart
35	chr16:47498600-47501600	Weak transcription	Fetal Intestine Large	intestine
36	chr16:47498600-47502200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:47498600-47504400	Weak transcription	Left Ventricle	heart
38	chr16:47498600-47506600	Weak transcription	HUVEC	blood vessel
39	chr16:47498600-47518200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr16:47498800-47500800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:47498800-47500800	Weak transcription	Psoas Muscle	Psoas
42	chr16:47498800-47501200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:47498800-47501400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr16:47498800-47501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:47498800-47501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr16:47498800-47501400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr16:47498800-47501400	Weak transcription	Right Ventricle	heart
48	chr16:47498800-47501400	Weak transcription	NHEK	skin
49	chr16:47498800-47501600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:47498800-47501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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