Variant report

Variant	rs16862695
Chromosome Location	chr1:169765016-169765017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:169763235-169765147	K562	blood:	n/a	n/a
2	POLR2A	chr1:169763479-169765090	K562	blood:	n/a	n/a
3	POLR2A	chr1:169763165-169766289	K562	blood:	n/a	n/a
4	POLR2A	chr1:169763021-169765340	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr1:169763111-169765549	IMR90	lung:	n/a	n/a
6	POLR2A	chr1:169763227-169765745	GM12878	blood:	n/a	n/a
7	HCFC1	chr1:169763085-169765566	Hela-S3	cervix:	n/a	n/a
8	E2F4	chr1:169763559-169765190	MCF10A-Er-Src	breast:	n/a	n/a
9	CHD1	chr1:169763765-169765030	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr1:169764754-169765128	K562	blood:	n/a	chr1:169764918-169764932 chr1:169764925-169764939 chr1:169764929-169764943
11	POLR2A	chr1:169763181-169766127	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:169764949-169765096	GM12878	blood:	n/a	n/a
13	HA-E2F1	chr1:169763450-169765201	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:169763143-169765402	K562	blood:	n/a	n/a
15	POLR2A	chr1:169763547-169765143	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:169764836-169765160	K562	blood:	n/a	n/a
17	POLR2A	chr1:169763588-169765047	GM18526	blood:	n/a	n/a
18	POLR2A	chr1:169763216-169765108	K562	blood:	n/a	n/a
19	POLR2A	chr1:169763186-169765296	GM18505	blood:	n/a	n/a
20	POLR2A	chr1:169763280-169765151	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:169763564-169765083	GM19193	blood:	n/a	n/a
22	MTA3	chr1:169763206-169765978	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:169764812-169765215	GM12892	blood:	n/a	n/a
24	TBP	chr1:169763292-169765054	K562	blood:	n/a	n/a
25	POLR2A	chr1:169763312-169765460	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169335832..169338194-chr1:169763167..169765301,2	K562	blood:
2	chr1:169763994..169765974-chr1:169862962..169865288,2	K562	blood:
3	chr1:169763753..169765531-chr1:169862183..169864517,2	MCF-7	breast:
4	chr1:169679878..169683283-chr1:169762041..169765464,5	MCF-7	breast:
5	chr1:169680417..169682445-chr1:169762164..169765185,3	MCF-7	breast:
6	chr1:169454326..169457851-chr1:169761976..169765744,3	MCF-7	breast:
7	chr1:169764521..169766056-chr1:169860447..169863119,2	MCF-7	breast:

No data

Variant related genes	Relation type
METTL18	TF binding region
ENSG00000000457	Chromatin interaction
ENSG00000117479	Chromatin interaction
ENSG00000117475	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000143156	Chromatin interaction
ENSG00000188404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16828212	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862686	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862693	1.00[AMR][1000 genomes]
rs16862701	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16862736	1.00[AMR][1000 genomes]
rs16862760	1.00[AMR][1000 genomes]
rs16862766	1.00[AMR][1000 genomes]
rs16862857	1.00[AMR][1000 genomes]
rs1883435	1.00[AMR][1000 genomes]
rs4987274	1.00[AMR][1000 genomes]
rs58764600	1.00[AMR][1000 genomes]
rs59795603	1.00[AMR][1000 genomes]
rs882596	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169762600-169765400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:169762800-169765200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:169762800-169765400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:169763000-169765200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:169763000-169765200	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:169763000-169765200	Active TSS	K562	blood
7	chr1:169763000-169765600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:169763000-169766400	Active TSS	GM12878-XiMat	blood
9	chr1:169763200-169765200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:169763200-169765200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:169763200-169765200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:169763200-169765200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:169763200-169765200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:169763200-169765200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:169763200-169765400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:169763200-169765600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:169763400-169765200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:169763400-169765200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:169763400-169765200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:169763400-169765200	Active TSS	HSMM	muscle
21	chr1:169763400-169765200	Active TSS	NHDF-Ad	bronchial
22	chr1:169763400-169765200	Active TSS	NHLF	lung
23	chr1:169763400-169765400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:169763400-169765400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:169763600-169765400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:169763600-169765400	Active TSS	NH-A	brain
27	chr1:169764400-169765200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:169764400-169765200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:169764400-169765200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:169764400-169765200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:169764400-169765200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:169764400-169765400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:169764400-169765400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:169764400-169765400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:169764600-169765200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr1:169764600-169765200	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:169764600-169765200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:169764600-169765200	Flanking Active TSS	Thymus	Thymus
39	chr1:169764600-169765200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:169764600-169765400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr1:169764600-169765600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:169764600-169765600	Flanking Active TSS	HUVEC	blood vessel
43	chr1:169764600-169782400	Weak transcription	Pancreas	Pancrea
44	chr1:169764800-169765200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:169764800-169765200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:169764800-169765200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr1:169764800-169765200	Enhancers	Primary B cells from peripheral blood	blood
48	chr1:169764800-169765200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:169764800-169765200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:169764800-169765200	Enhancers	Primary T helper cells fromperipheralblood	blood

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