Variant report

Variant	rs4373489
Chromosome Location	chr8:10588637-10588638
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	SUZ12	chr8:10588365-10591223	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr8:10587121-10589241	H1-hESC	embryonic stem cell:	n/a	chr8:10588092-10588101 chr8:10588647-10588656 chr8:10588851-10588863 chr8:10587300-10587307 chr8:10587300-10587307 chr8:10587420-10587432 chr8:10588145-10588155 chr8:10587423-10587432 chr8:10587300-10587307
3	E2F6	chr8:10588554-10589130	H1-hESC	embryonic stem cell:	n/a	chr8:10588647-10588656 chr8:10588851-10588863
4	MAX	chr8:10588588-10589132	H1-hESC	embryonic stem cell:	n/a	chr8:10588954-10588964 chr8:10588956-10588963 chr8:10588953-10588962
5	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
SOX7	TF binding region

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11774893	0.92[ASN][1000 genomes]
rs55871318	0.94[ASN][1000 genomes]
rs6601512	0.80[ASN][1000 genomes]
rs6988325	0.94[ASN][1000 genomes]
rs7001206	0.93[ASN][1000 genomes]
rs7005905	0.81[ASN][1000 genomes]

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	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
12	esv3339284	chr8:10586967-10589515	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10586000-10588800	Active TSS	Right Atrium	heart
2	chr8:10586200-10588800	Active TSS	Hela-S3	cervix
3	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr8:10586800-10588800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
5	chr8:10587000-10588800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10587000-10589000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:10587000-10589600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:10587200-10588800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:10587200-10588800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:10587200-10588800	Bivalent/Poised TSS	GM12878-XiMat	blood
11	chr8:10587200-10589000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:10587200-10589000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:10587200-10589000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:10587200-10589200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:10587200-10589200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:10587200-10592000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr8:10587400-10588800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr8:10587400-10588800	Active TSS	HMEC	breast
19	chr8:10587400-10589000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr8:10587400-10589200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:10587400-10590400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:10587400-10591200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
25	chr8:10587600-10589000	Bivalent Enhancer	Fetal Lung	lung
26	chr8:10587800-10588800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr8:10587800-10588800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr8:10587800-10589000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
29	chr8:10588000-10589000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:10588000-10589200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr8:10588000-10589600	Bivalent Enhancer	NH-A	brain
32	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr8:10588200-10588800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:10588200-10588800	Bivalent Enhancer	Fetal Brain Female	brain
36	chr8:10588200-10589200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr8:10588200-10590000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:10588200-10590800	Enhancers	Gastric	stomach
39	chr8:10588200-10591600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr8:10588400-10588800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
41	chr8:10588400-10588800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr8:10588400-10588800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr8:10588400-10588800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr8:10588400-10588800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:10588400-10588800	Flanking Active TSS	Liver	Liver
46	chr8:10588400-10588800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr8:10588400-10588800	Flanking Active TSS	Esophagus	oesophagus
48	chr8:10588400-10588800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr8:10588400-10588800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr8:10588400-10588800	Flanking Active TSS	NHEK	skin

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