Variant report

Variant	rs7007318
Chromosome Location	chr8:10592278-10592279
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	TBP	chr8:10591712-10592447	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr8:10591547-10592449	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
3	CHD1	chr8:10592004-10592366	H1-hESC	embryonic stem cell:	n/a	chr8:10592170-10592177
4	JUN	chr8:10592137-10592337	H1-hESC	embryonic stem cell:	n/a	chr8:10592310-10592319
5	CTBP2	chr8:10591586-10592697	H1-hESC	embryonic stem cell:	n/a	n/a
6	GABPA	chr8:10592020-10592345	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr8:10591668-10592381	H1-hESC	embryonic stem cell:	n/a	chr8:10591748-10591761 chr8:10591755-10591764
8	CTCF	chr8:10592019-10592291	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr8:10592070-10592324	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr8:10591945-10592299	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
11	RAD21	chr8:10591827-10592337	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
12	CHD2	chr8:10592020-10592291	H1-hESC	embryonic stem cell:	n/a	chr8:10592170-10592177
13	MAX	chr8:10591478-10592386	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr8:10591878-10592400	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr8:10591933-10592350	H1-hESC	embryonic stem cell:	n/a	chr8:10592252-10592265
16	CTCF	chr8:10591974-10592354	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr8:10591570-10592346	H1-hESC	embryonic stem cell:	n/a	chr8:10591915-10591924 chr8:10592170-10592177 chr8:10592309-10592318
18	CTCF	chr8:10591888-10592346	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr8:10591506-10592469	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr8:10591709-10592340	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr8:10591672-10592307	H1-hESC	embryonic stem cell:	n/a	chr8:10591754-10591764
22	BACH1	chr8:10592011-10592388	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:10592140-10592290	AG10803	skin:	n/a	n/a
24	CTCF	chr8:10592160-10592310	HCM	heart:	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: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10100209	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10100333	0.94[EUR][1000 genomes]
rs4841434	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841436	0.89[EUR][1000 genomes]
rs4841437	0.89[EUR][1000 genomes]
rs6601512	0.88[EUR][1000 genomes]
rs6601513	0.89[EUR][1000 genomes]
rs6991641	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6995692	0.87[ASN][1000 genomes]
rs7005905	0.93[EUR][1000 genomes]
rs7836366	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7007318	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

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	chr8:10588800-10592400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr8:10588800-10592400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:10589600-10592600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:10589800-10592400	Enhancers	Pancreas	Pancrea
9	chr8:10589800-10592600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:10590000-10592400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:10590400-10592400	Bivalent Enhancer	Fetal Thymus	thymus
12	chr8:10590600-10592400	Enhancers	HMEC	breast
13	chr8:10590800-10592400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:10590800-10592400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr8:10591200-10592400	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr8:10591200-10592600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:10591200-10593400	Enhancers	Esophagus	oesophagus
18	chr8:10591400-10592400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:10591400-10592600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:10591600-10592400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:10591600-10592400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:10591600-10592400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:10591600-10592400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr8:10591800-10592400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:10591800-10592400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr8:10591800-10592400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:10591800-10592400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr8:10591800-10592400	Flanking Active TSS	Right Ventricle	heart
31	chr8:10591800-10592600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr8:10592000-10592400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:10592000-10592400	Enhancers	Gastric	stomach
34	chr8:10592000-10592400	Enhancers	Right Atrium	heart
35	chr8:10592000-10592400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
36	chr8:10592000-10593800	Enhancers	NHEK	skin
37	chr8:10592200-10592400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:10592200-10592400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr8:10592200-10592400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:10592200-10592400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr8:10592200-10592400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:10592200-10592400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr8:10592200-10592400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr8:10592200-10592400	Bivalent Enhancer	NH-A	brain
45	chr8:10592200-10594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links