Variant report

Variant	rs7834139
Chromosome Location	chr8:11206363-11206364
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	TBL1XR1	chr8:11206297-11206504	K562	blood:	n/a	n/a
2	CUX1	chr8:11206320-11206495	K562	blood:	n/a	n/a
3	RCOR1	chr8:11206347-11206401	K562	blood:	n/a	n/a
4	CEBPB	chr8:11206288-11206541	K562	blood:	n/a	n/a
5	GATA1	chr8:11206280-11208770	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
6	FOS	chr8:11206293-11206589	MCF10A-Er-Src	breast:	n/a	chr8:11206428-11206436 chr8:11206426-11206438
7	CEBPB	chr8:11206263-11206547	IMR90	lung:	n/a	n/a
8	FOS	chr8:11206300-11206590	MCF10A-Er-Src	breast:	n/a	chr8:11206428-11206436 chr8:11206426-11206438
9	POLR2A	chr8:11205787-11206875	K562	blood:	n/a	n/a
10	ATF3	chr8:11206179-11206608	K562	blood:	n/a	chr8:11206194-11206208
11	JUND	chr8:11206288-11206511	K562	blood:	n/a	chr8:11206428-11206436 chr8:11206426-11206437 chr8:11206426-11206438
12	JUND	chr8:11206323-11206500	HepG2	liver:	n/a	chr8:11206428-11206436 chr8:11206426-11206437 chr8:11206426-11206438

No.	Distal block	Cell Line	Cell type
1	chr8:11202674..11205995-chr8:11206285..11210798,7	K562	blood:
2	chr8:11141950..11143471-chr8:11205387..11207796,2	K562	blood:
3	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
4	chr8:11205483..11207435-chr8:11216914..11218469,2	MCF-7	breast:
5	chr8:11140914..11143471-chr8:11206296..11209213,2	K562	blood:
6	chr8:11204525..11206554-chr8:11212652..11215291,3	MCF-7	breast:
7	chr8:11205933..11210781-chr8:11211287..11215199,6	K562	blood:

Variant related genes	Relation type
ENSG00000255020	TF binding region
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction
ENSG00000255020	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10096194	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10098322	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10110557	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11250129	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774673	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781375	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782706	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784458	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11784544	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11991153	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11994376	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13248147	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13250270	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13253016	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13263127	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13266233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1435273	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17741537	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17797894	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1962656	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060456	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060457	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060459	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293855	0.83[AFR][1000 genomes]
rs2293856	0.83[AFR][1000 genomes]
rs2293858	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2293859	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293860	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2736277	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3174048	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34237267	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35392635	0.80[AFR][1000 genomes]
rs35631424	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35687566	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35747588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779891	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4394351	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4413734	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5029571	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58283816	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62488721	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6601580	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6988922	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6990563	0.80[EUR][1000 genomes]
rs6995404	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6996368	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7005469	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7008205	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7016671	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7815463	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7815802	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7815804	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7816601	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7816636	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7819395	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7820895	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7828711	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7831346	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7833966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838897	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7839053	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv890355	chr8:11202154-11219334	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7834139	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7834139	MTMR9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
2	chr8:11204000-11206400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr8:11204200-11206400	Active TSS	Brain Anterior Caudate	brain
4	chr8:11204400-11206400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr8:11205200-11206400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11205600-11206400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:11205600-11206400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
8	chr8:11205600-11206400	Flanking Bivalent TSS/Enh	NH-A	brain
9	chr8:11205600-11206400	Flanking Bivalent TSS/Enh	NHEK	skin
10	chr8:11205600-11206600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr8:11205600-11208400	Flanking Active TSS	K562	blood
12	chr8:11205800-11206400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11205800-11206400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:11205800-11206400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr8:11205800-11206400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11205800-11206400	Flanking Bivalent TSS/Enh	A549	lung
17	chr8:11206000-11206400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr8:11206000-11206400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
19	chr8:11206000-11206400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr8:11206000-11206400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:11206000-11206400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
22	chr8:11206000-11206400	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr8:11206000-11206400	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr8:11206000-11206800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:11206000-11207000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr8:11206000-11207000	Bivalent Enhancer	Fetal Brain Male	brain
27	chr8:11206200-11206400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:11206200-11206400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:11206200-11206400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:11206200-11206400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:11206200-11206400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:11206200-11206400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:11206200-11206400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:11206200-11206400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr8:11206200-11206400	Active TSS	Placenta Amnion	Placenta Amnion
36	chr8:11206200-11206400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr8:11206200-11206400	Bivalent Enhancer	HSMMtube	muscle
38	chr8:11206200-11206400	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
39	chr8:11206200-11206400	Bivalent Enhancer	Osteobl	bone
40	chr8:11206200-11206600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr8:11206200-11206600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:11206200-11206600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr8:11206200-11206600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:11206200-11206600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr8:11206200-11206600	Enhancers	HMEC	breast
46	chr8:11206200-11206800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr8:11206200-11206800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:11206200-11206800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:11206200-11206800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:11206200-11206800	Bivalent Enhancer	Brain Hippocampus Middle	brain

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