Variant report

Variant	rs60167323
Chromosome Location	chr8:10590715-10590716
allele	A/G
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	SIN3A	chr8:10590245-10591359	H1-hESC	embryonic stem cell:	n/a	chr8:10590885-10590898 chr8:10590513-10590526
2	SUZ12	chr8:10588365-10591223	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr8:10589815-10590989	H1-hESC	embryonic stem cell:	n/a	chr8:10590265-10590272 chr8:10589954-10589961 chr8:10590265-10590272 chr8:10589954-10589961 chr8:10590265-10590272 chr8:10589954-10589961 chr8:10590510-10590520
4	E2F6	chr8:10590419-10590925	A549	lung:	n/a	chr8:10590510-10590520
5	POLR2A	chr8:10590270-10590864	H1-neurons	neurons:	n/a	n/a
6	MAX	chr8:10589936-10590939	A549	lung:	n/a	n/a
7	E2F6	chr8:10589980-10590853	H1-hESC	embryonic stem cell:	n/a	chr8:10590265-10590272 chr8:10590265-10590272 chr8:10590265-10590272 chr8:10590510-10590520
8	MAX	chr8:10590402-10590870	A549	lung:	n/a	n/a
9	POLR2A	chr8:10590036-10590844	H1-neurons	neurons:	n/a	n/a
10	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a
11	MAX	chr8:10589924-10590857	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr8:10588662-10591163	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr8:10589880-10590757	A549	lung:	n/a	chr8:10590625-10590635 chr8:10590624-10590637 chr8:10590171-10590189
14	MAX	chr8:10589944-10590805	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SOX7	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7002336	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7009920	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73200724	0.93[EUR][1000 genomes]
rs7825147	0.96[EUR][1000 genomes]
rs7827270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838335	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr8:10587200-10592000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr8:10587400-10591200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
6	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr8:10588200-10590800	Enhancers	Gastric	stomach
9	chr8:10588200-10591600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr8:10588400-10591600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr8:10588400-10592000	Enhancers	Lung	lung
12	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr8:10588600-10591400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:10588600-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:10589600-10591200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
19	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:10589800-10590800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:10589800-10591200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:10589800-10591400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr8:10589800-10591400	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
25	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
26	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:10590000-10591200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
28	chr8:10590000-10591200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr8:10590000-10591400	Bivalent Enhancer	Fetal Heart	heart
30	chr8:10590000-10591400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr8:10590000-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:10590000-10592000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr8:10590200-10590800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:10590200-10590800	Bivalent Enhancer	Colon Smooth Muscle	Colon
36	chr8:10590200-10590800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr8:10590200-10590800	Bivalent/Poised TSS	A549	lung
38	chr8:10590200-10591000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
39	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
41	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr8:10590200-10591400	Bivalent Enhancer	Fetal Stomach	stomach
46	chr8:10590200-10591400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
47	chr8:10590200-10591400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr8:10590200-10591800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:10590200-10591800	Active TSS	Brain Substantia Nigra	brain
50	chr8:10590200-10592000	Flanking Active TSS	NHEK	skin

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