Variant report

Variant	rs35633274
Chromosome Location	chr8:10590050-10590051
allele	C/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	CTCF	chr8:10590020-10590170	AG09319	gingival:	n/a	n/a
2	CTCF	chr8:10589960-10590110	A549	lung:	n/a	n/a
3	SUZ12	chr8:10588365-10591223	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:10590034-10590387	H1-hESC	embryonic stem cell:	n/a	chr8:10590171-10590189
5	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
6	BACH1	chr8:10590004-10590533	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:10590020-10590170	GM12866	blood:	n/a	n/a
8	MAX	chr8:10589936-10590939	A549	lung:	n/a	n/a
9	E2F6	chr8:10589980-10590853	H1-hESC	embryonic stem cell:	n/a	chr8:10590265-10590272 chr8:10590265-10590272 chr8:10590265-10590272 chr8:10590510-10590520
10	RAD21	chr8:10589953-10590354	H1-hESC	embryonic stem cell:	n/a	chr8:10590172-10590191
11	GABPA	chr8:10590048-10590372	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:10590040-10590190	GM06990	blood:	n/a	chr8:10590171-10590189
13	CTCF	chr8:10589940-10590090	A549	lung:	n/a	n/a
14	POLR2A	chr8:10590036-10590844	H1-neurons	neurons:	n/a	n/a
15	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a
16	MAX	chr8:10589924-10590857	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr8:10589767-10590154	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTBP2	chr8:10588662-10591163	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr8:10589962-10590359	H1-hESC	embryonic stem cell:	n/a	chr8:10590171-10590189
20	RAD21	chr8:10589994-10590666	H1-hESC	embryonic stem cell:	n/a	chr8:10590172-10590191
21	RAD21	chr8:10589880-10590676	H1-hESC	embryonic stem cell:	n/a	chr8:10590172-10590191
22	RAD21	chr8:10589990-10590513	A549	lung:	n/a	chr8:10590172-10590191
23	CTCF	chr8:10590040-10590190	GM12873	blood:	n/a	chr8:10590171-10590189
24	CTCF	chr8:10589880-10590757	A549	lung:	n/a	chr8:10590625-10590635 chr8:10590624-10590637 chr8:10590171-10590189
25	RAD21	chr8:10590030-10590257	HepG2	liver:	n/a	chr8:10590172-10590191
26	MAX	chr8:10589986-10590346	A549	lung:	n/a	n/a
27	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: 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	1.00[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]
rs35745110	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	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:69 , 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	chr8:10587400-10590400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:10587400-10591200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:10587400-10592400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:10587400-10592400	Bivalent Enhancer	Placenta	Placenta
7	chr8:10588000-10592000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr8:10588000-10592400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr8:10588200-10590800	Enhancers	Gastric	stomach
10	chr8:10588200-10591600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr8:10588400-10591600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr8:10588400-10592000	Enhancers	Lung	lung
13	chr8:10588400-10592200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr8:10588600-10590600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:10588600-10591400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:10588600-10591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:10588800-10590200	Enhancers	Liver	Liver
18	chr8:10588800-10590200	Weak transcription	HUVEC	blood vessel
19	chr8:10588800-10590400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr8:10588800-10590600	Weak transcription	HMEC	breast
21	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:10589000-10590200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:10589000-10590200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:10589000-10590400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:10589000-10590600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr8:10589200-10590200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr8:10589400-10590400	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr8:10589600-10590200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:10589600-10590200	Bivalent Enhancer	Brain Substantia Nigra	brain
31	chr8:10589600-10590200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr8:10589600-10590400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:10589600-10590400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr8:10589600-10590600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:10589600-10590600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:10589600-10591200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:10589600-10592200	Bivalent Enhancer	Spleen	Spleen
38	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr8:10589800-10590200	Bivalent Enhancer	Left Ventricle	heart
40	chr8:10589800-10590200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
41	chr8:10589800-10590200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
42	chr8:10589800-10590200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr8:10589800-10590400	Bivalent Enhancer	Esophagus	oesophagus
44	chr8:10589800-10590400	Enhancers	Right Atrium	heart
45	chr8:10589800-10590800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:10589800-10591200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:10589800-10591400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr8:10589800-10591400	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr8:10589800-10592200	Bivalent Enhancer	Fetal Lung	lung
50	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea

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