Variant report

Variant	rs35745110
Chromosome Location	chr8:10592034-10592035
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	CTCF	chr8:10592010-10592235	HepG2	liver:	n/a	n/a
2	TBP	chr8:10591712-10592447	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr8:10591703-10592242	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr8:10591504-10592204	MCF-7	breast:	n/a	n/a
5	CEBPB	chr8:10592028-10592209	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:10591980-10592130	GM12873	blood:	n/a	n/a
7	GATA3	chr8:10591630-10592058	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:10592020-10592170	SAEC	small airway:	n/a	n/a
9	E2F6	chr8:10591547-10592449	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
10	CHD1	chr8:10592004-10592366	H1-hESC	embryonic stem cell:	n/a	chr8:10592170-10592177
11	CTBP2	chr8:10591586-10592697	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr8:10592029-10592211	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr8:10592020-10592345	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr8:10591668-10592381	H1-hESC	embryonic stem cell:	n/a	chr8:10591748-10591761 chr8:10591755-10591764
15	CTCF	chr8:10592020-10592170	AG04449	skin:	n/a	n/a
16	CTCF	chr8:10592019-10592291	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:10592020-10592170	HEEpiC	esophagus:	n/a	n/a
18	RAD21	chr8:10591945-10592299	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
19	CTCF	chr8:10592000-10592150	GM12864	blood:	n/a	n/a
20	RAD21	chr8:10591827-10592337	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
21	CHD2	chr8:10592020-10592291	H1-hESC	embryonic stem cell:	n/a	chr8:10592170-10592177
22	MAX	chr8:10591478-10592386	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr8:10591878-10592400	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr8:10591933-10592350	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
25	GATA3	chr8:10591513-10592146	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:10591974-10592354	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr8:10591570-10592346	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
28	CTCF	chr8:10591888-10592346	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr8:10591791-10592226	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:10591920-10592150	GM12878	blood:	n/a	n/a
31	MAX	chr8:10591506-10592469	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:10591709-10592340	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF143	chr8:10591672-10592307	H1-hESC	embryonic stem cell:	n/a	chr8:10591754-10591764
34	BACH1	chr8:10592011-10592388	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr8:10591960-10592110	HFF-Myc	foreskin:	n/a	n/a
36	YY1	chr8:10591593-10592166	H1-hESC	embryonic stem cell:	n/a	chr8:10591754-10591768 chr8:10591835-10591851 chr8:10591753-10591767
37	CTCF	chr8:10592000-10592150	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr8:10591900-10592050	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10591978..10593893-chr8:10610774..10613689,2	K562	blood:

Variant related genes	Relation type
SOX7	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13258593	0.87[EUR][1000 genomes]
rs13259278	0.87[EUR][1000 genomes]
rs13262374	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13262726	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269896	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13270447	0.87[EUR][1000 genomes]
rs13270498	0.87[EUR][1000 genomes]
rs13271456	0.87[EUR][1000 genomes]
rs13273767	0.82[EUR][1000 genomes]
rs13279753	0.82[EUR][1000 genomes]
rs13281048	0.87[EUR][1000 genomes]
rs17152289	0.87[EUR][1000 genomes]
rs17152398	0.81[EUR][1000 genomes]
rs17773567	0.87[EUR][1000 genomes]
rs17773826	0.87[EUR][1000 genomes]
rs2409673	0.94[EUR][1000 genomes]
rs34380949	0.87[EUR][1000 genomes]
rs35414136	0.86[EUR][1000 genomes]
rs35633274	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71516592	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71516594	0.87[EUR][1000 genomes]
rs71516595	0.82[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	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
6	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
7	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
8	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
9	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 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	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
4	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
9	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
11	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
12	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:10590200-10592200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:10590400-10592200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:10590400-10592200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr8:10590400-10592400	Bivalent Enhancer	Fetal Thymus	thymus
18	chr8:10590600-10592400	Enhancers	HMEC	breast
19	chr8:10590800-10592200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
20	chr8:10590800-10592400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:10590800-10592400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr8:10591200-10592200	Enhancers	Brain Angular Gyrus	brain
23	chr8:10591200-10592200	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr8:10591200-10592400	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr8:10591200-10592600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:10591200-10593400	Enhancers	Esophagus	oesophagus
27	chr8:10591400-10592200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:10591400-10592200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr8:10591400-10592200	Bivalent/Poised TSS	NH-A	brain
30	chr8:10591400-10592400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:10591400-10592600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:10591600-10592200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr8:10591600-10592200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
41	chr8:10591600-10592400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:10591600-10592400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:10591600-10592400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr8:10591800-10592200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:10591800-10592200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:10591800-10592200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:10591800-10592200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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