Variant report

Variant	rs7827270
Chromosome Location	chr8:10590553-10590554
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	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	GABPA	chr8:10590240-10590594	H1-hESC	embryonic stem cell:	n/a	chr8:10590510-10590519
10	CTCF	chr8:10590500-10590650	HEEpiC	esophagus:	n/a	chr8:10590625-10590635 chr8:10590624-10590637
11	POLR2A	chr8:10590036-10590844	H1-neurons	neurons:	n/a	n/a
12	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a
13	TBP	chr8:10590524-10590686	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr8:10589924-10590857	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr8:10588662-10591163	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr8:10589994-10590666	H1-hESC	embryonic stem cell:	n/a	chr8:10590172-10590191
17	RAD21	chr8:10589880-10590676	H1-hESC	embryonic stem cell:	n/a	chr8:10590172-10590191
18	CTCF	chr8:10590414-10590668	NHEK	skin:	n/a	chr8:10590625-10590635 chr8:10590624-10590637
19	CTCF	chr8:10589880-10590757	A549	lung:	n/a	chr8:10590625-10590635 chr8:10590624-10590637 chr8:10590171-10590189
20	CTCF	chr8:10590440-10590590	SAEC	small airway:	n/a	n/a
21	MAX	chr8:10589944-10590805	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10590511-10590561	AG09319	gingival:	n/a
2	chr8:10590511-10590561	AG09309	skin:	n/a
3	chr8:10590511-10590561	Caco-2	colon:	n/a
4	chr8:10590511-10590561	HCT-116	colon:	n/a
5	chr8:10590511-10590561	HAEpiC	amniotic membrane:	n/a
6	chr8:10590503-10590553	Caco-2	colon:	n/a
7	chr8:10590503-10590553	SAEC	small airway:	n/a
8	chr8:10590503-10590553	GM06990	blood:	n/a
9	chr8:10590503-10590553	U87	brain:	n/a
10	chr8:10590511-10590561	U87	brain:	n/a
11	chr8:10590503-10590553	SK-N-SH	brain:	n/a
12	chr8:10590503-10590553	GM12892	blood:	n/a
13	chr8:10590503-10590553	HL-60	blood:	n/a
14	chr8:10590511-10590561	NHDF-neo	bronchial:	n/a
15	chr8:10590503-10590553	T-47D	breast:	n/a
16	chr8:10590503-10590553	IMR90	lung:	fetal
17	chr8:10590511-10590561	GM12891	blood:	n/a
18	chr8:10590511-10590561	PANC-1	pancreas:	n/a
19	chr8:10590511-10590561	HepG2	liver:	n/a
20	chr8:10590503-10590553	Hepatocyte	liver:	n/a
21	chr8:10590511-10590561	GM19239	blood:	n/a
22	chr8:10590511-10590561	GM06990	blood:	n/a
23	chr8:10590503-10590553	MCF-7	breast:	n/a
24	chr8:10590503-10590553	PFSK-1	brain:	n/a
25	chr8:10590511-10590561	MCF-7	breast:	n/a
26	chr8:10590503-10590553	PANC-1	pancreas:	n/a
27	chr8:10590503-10590553	HIPEpiC	eye:	n/a
28	chr8:10590503-10590553	AG09309	skin:	n/a
29	chr8:10590511-10590561	Hepatocyte	liver:	n/a
30	chr8:10590511-10590561	IMR90	lung:	fetal
31	chr8:10590503-10590553	AG10803	skin:	n/a
32	chr8:10590503-10590553	HRE	kidney:	n/a
33	chr8:10590511-10590561	Hela-S3	cervix:	n/a
34	chr8:10590503-10590553	CMK	blood:	n/a
35	chr8:10590503-10590553	HRPEpiC	eye:	n/a
36	chr8:10590503-10590553	H1-hESC	embryonic stem cell:	embryo
37	chr8:10590503-10590553	K562	blood:	n/a
38	chr8:10590503-10590553	HPAEpiC	pulmonary alveolar:	n/a
39	chr8:10590511-10590561	GM12892	blood:	n/a
40	chr8:10590503-10590553	HUVEC	blood vessel:	n/a
41	chr8:10590511-10590561	T-47D	breast:	n/a
42	chr8:10590503-10590553	BJ	skin:	n/a
43	chr8:10590511-10590561	RPTEC	kidney:	n/a
44	chr8:10590511-10590561	SK-N-SH_RA	brain:	n/a
45	chr8:10590511-10590561	HEK293	kidney:	embryo
46	chr8:10590503-10590553	AG09319	gingival:	n/a
47	chr8:10590503-10590553	ECC-1	luminal epithelium:	n/a
48	chr8:10590511-10590561	A549	lung:	n/a
49	chr8:10590511-10590561	HL-60	blood:	n/a
50	chr8:10590511-10590561	AG10803	skin:	n/a

Variant related genes	Relation type
SOX7	TF binding region
SOX7	CpG island

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

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

rs_ID	r²[population]
rs60167323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002336	0.81[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	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7838335	0.91[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:90 , 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	chr8:10588600-10590600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:10588600-10591400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr8:10588600-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:10588800-10590600	Weak transcription	HMEC	breast
17	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:10589000-10590600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr8:10589600-10590600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:10589600-10590600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:10589600-10591200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
24	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:10589800-10590800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:10589800-10591200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:10589800-10591400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr8:10589800-10591400	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
30	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
31	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:10590000-10590600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:10590000-10591200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr8:10590000-10591200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
35	chr8:10590000-10591400	Bivalent Enhancer	Fetal Heart	heart
36	chr8:10590000-10591400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr8:10590000-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:10590000-10592000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:10590200-10590600	Flanking Active TSS	Liver	Liver
41	chr8:10590200-10590600	Bivalent/Poised TSS	HepG2	liver
42	chr8:10590200-10590800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:10590200-10590800	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr8:10590200-10590800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr8:10590200-10590800	Bivalent/Poised TSS	A549	lung
46	chr8:10590200-10591000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
47	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
49	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr8:10590200-10591200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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