Variant report

Variant	rs4713107
Chromosome Location	chr6:27446289-27446290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27445180..27448158-chr6:27859004..27861721,2	K562	blood:
2	chr6:27356379..27358071-chr6:27446132..27448857,2	K562	blood:
3	chr6:27440158..27442625-chr6:27445156..27448200,3	MCF-7	breast:
4	chr6:27444748..27447549-chr6:27506733..27508413,2	K562	blood:
5	chr6:27217841..27219766-chr6:27445858..27447970,2	K562	blood:
6	chr6:27436780..27444180-chr6:27444326..27451609,21	K562	blood:
7	chr6:27445237..27448966-chr6:27511451..27515137,4	K562	blood:
8	chr6:27444529..27447552-chr6:27720507..27722383,3	K562	blood:
9	chr6:27439314..27444184-chr6:27444600..27448871,6	MCF-7	breast:
10	chr6:27278606..27280267-chr6:27443995..27446330,2	K562	blood:
11	chr6:27445186..27449983-chr6:27468978..27472948,6	K562	blood:
12	chr6:27299766..27302375-chr6:27444830..27446395,2	K562	blood:
13	chr6:27445490..27447467-chr6:27449850..27451759,2	K562	blood:
14	chr6:27445490..27447223-chr6:27448748..27451759,4	K562	blood:
15	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:
16	chr6:27445045..27447586-chr6:27780627..27782678,2	MCF-7	breast:
17	chr6:27434893..27436769-chr6:27444407..27446972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000158553	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000124613	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000182611	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1014227	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10452601	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10484397	0.82[ASN][1000 genomes]
rs10484398	0.95[ASN][1000 genomes]
rs10755644	0.83[EUR][1000 genomes]
rs10807023	0.82[ASN][1000 genomes]
rs10807024	0.95[ASN][1000 genomes]
rs10807025	0.95[ASN][1000 genomes]
rs10946919	0.92[ASN][1000 genomes]
rs10946920	0.95[ASN][1000 genomes]
rs10946921	0.95[ASN][1000 genomes]
rs10946931	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10946932	0.88[ASN][1000 genomes]
rs10946933	0.89[ASN][1000 genomes]
rs11966173	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11970336	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12197858	0.82[ASN][1000 genomes]
rs12199110	0.94[ASN][1000 genomes]
rs12200018	0.82[ASN][1000 genomes]
rs12206045	0.85[ASN][1000 genomes]
rs12212293	0.82[ASN][1000 genomes]
rs12213598	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215117	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12524409	0.95[ASN][1000 genomes]
rs12529839	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13201443	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13201965	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13201985	0.94[ASN][1000 genomes]
rs13212050	0.88[ASN][1000 genomes]
rs13215560	0.87[ASN][1000 genomes]
rs13217162	0.88[ASN][1000 genomes]
rs13217248	0.88[ASN][1000 genomes]
rs13220155	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569566	0.82[ASN][1000 genomes]
rs1883216	0.95[ASN][1000 genomes]
rs1985818	0.82[EUR][1000 genomes]
rs2049944	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2049945	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2092120	0.91[ASN][1000 genomes]
rs2092121	0.95[ASN][1000 genomes]
rs2092122	0.95[ASN][1000 genomes]
rs2103557	0.89[ASN][1000 genomes]
rs2142705	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2143062	0.83[EUR][1000 genomes]
rs2179154	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2206254	0.82[ASN][1000 genomes]
rs2235252	0.94[ASN][1000 genomes]
rs2235254	0.94[ASN][1000 genomes]
rs2272814	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272815	0.93[ASN][1000 genomes]
rs2272816	0.94[ASN][1000 genomes]
rs2294308	0.87[ASN][1000 genomes]
rs2294309	0.86[ASN][1000 genomes]
rs2893917	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35394453	0.94[ASN][1000 genomes]
rs4478400	0.85[ASN][1000 genomes]
rs4711153	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713104	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713105	0.94[ASN][1000 genomes]
rs4713106	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713109	0.87[ASN][1000 genomes]
rs55705181	0.81[ASN][1000 genomes]
rs57647048	0.82[ASN][1000 genomes]
rs62401365	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456781	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6456786	0.94[ASN][1000 genomes]
rs6456788	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6456789	0.95[ASN][1000 genomes]
rs6456790	0.98[EUR][1000 genomes]
rs6456791	0.81[ASN][1000 genomes]
rs6650992	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6899780	0.82[ASN][1000 genomes]
rs6899950	0.95[ASN][1000 genomes]
rs6903282	0.86[ASN][1000 genomes]
rs6904844	0.89[ASN][1000 genomes]
rs6908086	0.82[ASN][1000 genomes]
rs6911865	0.87[ASN][1000 genomes]
rs6914542	0.82[ASN][1000 genomes]
rs6914585	0.82[ASN][1000 genomes]
rs6918131	0.89[ASN][1000 genomes]
rs6918794	0.87[ASN][1000 genomes]
rs6920010	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6920408	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6920733	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921071	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6931659	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933354	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs726830	0.99[ASN][1000 genomes]
rs7509	0.93[ASN][1000 genomes]
rs760880	0.82[ASN][1000 genomes]
rs764460	0.95[ASN][1000 genomes]
rs764461	0.95[ASN][1000 genomes]
rs7741031	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7743443	0.95[ASN][1000 genomes]
rs7743465	0.95[ASN][1000 genomes]
rs7744110	0.94[ASN][1000 genomes]
rs7745380	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7747283	0.82[ASN][1000 genomes]
rs7748366	0.95[ASN][1000 genomes]
rs7750795	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7754678	0.92[ASN][1000 genomes]
rs7754724	0.95[ASN][1000 genomes]
rs7756216	0.95[ASN][1000 genomes]
rs7756377	0.88[ASN][1000 genomes]
rs7759001	0.82[EUR][1000 genomes]
rs7764070	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7764634	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771590	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7772160	0.92[ASN][1000 genomes]
rs7774613	0.86[ASN][1000 genomes]
rs7776338	0.89[ASN][1000 genomes]
rs9295735	0.85[EUR][1000 genomes]
rs9357037	0.82[EUR][1000 genomes]
rs9368508	0.82[EUR][1000 genomes]
rs9461386	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9468121	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9468140	0.88[ASN][1000 genomes]
rs9468141	0.87[ASN][1000 genomes]
rs979352	0.82[ASN][1000 genomes]
rs979353	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv883508	chr6:27434220-27455625	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4713107	ZNF391	cis	Esophagus Mucosa	GTEx
rs4713107	ZNF391	cis	Artery Aorta	GTEx
rs4713107	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs4713107	ZNF391	cis	Muscle Skeletal	GTEx
rs4713107	ZNF391	cis	Esophagus Muscularis	GTEx
rs4713107	ZNF391	cis	Artery Tibial	GTEx
rs4713107	ZNF391	cis	Heart Left Ventricle	GTEx
rs4713107	ZNF391	cis	Thyroid	GTEx
rs4713107	ZNF391	cis	lung	GTEx
rs4713107	ZNF391	cis	Adipose Subcutaneous	GTEx
rs4713107	ZNF391	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27441400-27446400	Weak transcription	Small Intestine	intestine
2	chr6:27441400-27446800	Weak transcription	Spleen	Spleen
3	chr6:27445000-27446400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:27445000-27446400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:27445000-27446400	Flanking Active TSS	K562	blood
6	chr6:27445000-27447800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:27445000-27448000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:27445000-27448000	Active TSS	NHLF	lung
9	chr6:27445200-27446400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:27445200-27446400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:27445200-27448000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:27445400-27446400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:27445400-27446400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:27445400-27446400	Flanking Active TSS	Dnd41	blood
15	chr6:27445400-27446400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:27445400-27446600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr6:27445400-27447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:27445400-27448000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:27445400-27448000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:27445400-27448000	Active TSS	Rectal Smooth Muscle	rectum
21	chr6:27445600-27446400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr6:27445600-27446400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr6:27445600-27446400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:27445600-27446400	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr6:27445600-27446400	Flanking Active TSS	Fetal Lung	lung
26	chr6:27445600-27446400	Flanking Active TSS	Osteobl	bone
27	chr6:27445600-27446600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:27445600-27446600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr6:27445600-27446600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr6:27445600-27446800	Bivalent/Poised TSS	Fetal Brain Male	brain
31	chr6:27445600-27448000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:27445600-27448000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:27445600-27448000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:27445600-27448000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:27445800-27446400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:27445800-27446400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:27445800-27446400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:27445800-27446400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:27445800-27446400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr6:27445800-27446400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:27445800-27446400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:27445800-27446400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr6:27445800-27446400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr6:27445800-27446400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr6:27445800-27446400	Flanking Active TSS	Psoas Muscle	Psoas
46	chr6:27445800-27446400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:27445800-27446400	Flanking Active TSS	Hela-S3	cervix
48	chr6:27445800-27446600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:27445800-27446600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:27445800-27446600	Flanking Active TSS	Liver	Liver

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