Variant report

Variant	rs2033558
Chromosome Location	chr8:103569205-103569206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:103569121-103570142	GM12892	blood:	n/a	n/a
2	NFIC	chr8:103568970-103569888	GM12878	blood:	n/a	n/a
3	MAX	chr8:103569153-103569814	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:103569074-103570172	GM12892	blood:	n/a	n/a
5	BATF	chr8:103569172-103569766	GM12878	blood:	n/a	n/a
6	ATF2	chr8:103568983-103569885	GM12878	blood:	n/a	n/a
7	ATF2	chr8:103569010-103570182	GM12878	blood:	n/a	n/a
8	IKZF1	chr8:103568985-103569844	GM12878	blood:	n/a	n/a
9	RUNX3	chr8:103569020-103570195	GM12878	blood:	n/a	n/a
10	CUX1	chr8:103569073-103569730	GM12878	blood:	n/a	n/a
11	RELA	chr8:103569163-103570112	GM19099	blood:	n/a	n/a
12	RELA	chr8:103569128-103569885	GM19193	blood:	n/a	n/a
13	IRF4	chr8:103569185-103569845	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:103568803-103570388	Raji	blood:	n/a	n/a
15	BCLAF1	chr8:103569033-103569881	GM12878	blood:	n/a	n/a
16	NFIC	chr8:103568839-103570233	GM12878	blood:	n/a	n/a
17	NFATC1	chr8:103569190-103569828	GM12878	blood:	n/a	n/a
18	STAT5A	chr8:103568830-103570010	GM12878	blood:	n/a	n/a
19	POLR2A	chr8:103569087-103570089	GM12878	blood:	n/a	n/a
20	MTA3	chr8:103568787-103570389	GM12878	blood:	n/a	n/a
21	RELA	chr8:103569162-103569995	GM12891	blood:	n/a	n/a
22	PML	chr8:103569091-103570259	GM12878	blood:	n/a	chr8:103569747-103569755
23	YY1	chr8:103569164-103569711	GM12878	blood:	n/a	n/a
24	RELA	chr8:103569202-103570026	GM12878	blood:	n/a	n/a
25	MTA3	chr8:103569112-103570244	GM12878	blood:	n/a	n/a
26	BCLAF1	chr8:103569172-103570142	GM12878	blood:	n/a	n/a
27	RELA	chr8:103569122-103569726	GM12892	blood:	n/a	n/a
28	YY1	chr8:103569034-103569647	GM12892	blood:	n/a	n/a
29	IRF4	chr8:103569194-103569832	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:103568908-103570298	GM12892	blood:	n/a	n/a
31	RUNX3	chr8:103569049-103570279	GM12878	blood:	n/a	n/a
32	RELA	chr8:103569167-103569795	GM15510	blood:	n/a	n/a
33	FOXM1	chr8:103569009-103569966	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr8:103569134-103569770	GM12878	blood:	n/a	n/a
35	RELA	chr8:103569133-103569793	GM10847	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103564890..103567326-chr8:103568575..103570813,2	MCF-7	breast:
2	chr8:103563316..103565121-chr8:103568233..103570660,2	K562	blood:
3	chr8:103568483..103570807-chr8:103581196..103582779,2	MCF-7	breast:
4	chr8:103561576..103563655-chr8:103568323..103570576,2	MCF-7	breast:
5	chr8:103567304..103569694-chr8:103578366..103580055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ODF1	TF binding region
ENSG00000155087	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2117331	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436895	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436898	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2436907	0.87[ASN][1000 genomes]
rs892504	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs892505	0.85[EUR][1000 genomes]
rs892506	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs892507	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs919952	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv534151	chr8:103563857-103589862	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
2	chr8:103557200-103582000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103566600-103576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103567400-103570000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:103568000-103569600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:103568400-103569600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:103568400-103574400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:103568600-103569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:103568600-103569800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:103568800-103569400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:103568800-103569600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:103568800-103570200	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:103568800-103570400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:103568800-103570400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:103568800-103570400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:103569000-103569400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:103569000-103569600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:103569000-103569800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:103569000-103569800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:103569000-103569800	Enhancers	K562	blood
21	chr8:103569200-103569600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:103569200-103569600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:103569200-103569800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:103569200-103569800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:103569200-103569800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr8:103569200-103570000	Enhancers	Primary T cells fromperipheralblood	blood

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