Variant report

Variant	rs12215117
Chromosome Location	chr6:27447296-27447297
allele	A/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	chr17:41392578..41393534-chr6:27446811..27447663,2	Hela-S3	cervix:
6	chr6:27217841..27219766-chr6:27445858..27447970,2	K562	blood:
7	chr6:27436780..27444180-chr6:27444326..27451609,21	K562	blood:
8	chr6:27445237..27448966-chr6:27511451..27515137,4	K562	blood:
9	chr6:27444529..27447552-chr6:27720507..27722383,3	K562	blood:
10	chr6:27439314..27444184-chr6:27444600..27448871,6	MCF-7	breast:
11	chr6:27446661..27447608-chr6:99962487..99963008,2	Hela-S3	cervix:
12	chr6:27445186..27449983-chr6:27468978..27472948,6	K562	blood:
13	chr6:27447039..27449538-chr6:27803021..27805992,2	K562	blood:
14	chr6:27445490..27447467-chr6:27449850..27451759,2	K562	blood:
15	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:
16	chr6:27445045..27447586-chr6:27780627..27782678,2	MCF-7	breast:
17	chr6:27446703..27448250-chr6:27484591..27486266,2	MCF-7	breast:

No data

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

Extended variants
information (count: 137 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1014227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10484396	0.83[ASN][1000 genomes]
rs10484397	0.86[ASN][1000 genomes]
rs10484398	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10807023	0.86[ASN][1000 genomes]
rs10807024	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10807025	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946916	0.85[EUR][1000 genomes]
rs10946919	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10946920	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10946921	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10946931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10946932	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946933	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11970336	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197858	0.86[ASN][1000 genomes]
rs12199110	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12200018	0.86[ASN][1000 genomes]
rs12205189	0.82[ASN][1000 genomes]
rs12206045	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12212288	0.82[ASN][1000 genomes]
rs12212293	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12213598	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524409	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525544	0.82[ASN][1000 genomes]
rs12528904	0.82[ASN][1000 genomes]
rs12529839	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12529840	0.83[ASN][1000 genomes]
rs13201443	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201965	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201985	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13207099	0.82[ASN][1000 genomes]
rs13212050	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215560	0.92[ASN][1000 genomes]
rs13217162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217248	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13217798	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13220155	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569566	0.86[ASN][1000 genomes]
rs1883216	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2049944	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049945	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092120	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2092121	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2092122	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2103557	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142705	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179154	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205831	0.83[ASN][1000 genomes]
rs2206253	0.83[ASN][1000 genomes]
rs2206254	0.86[ASN][1000 genomes]
rs2235252	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2235254	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2272814	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272815	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272816	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294308	0.92[ASN][1000 genomes]
rs2294309	0.91[ASN][1000 genomes]
rs2893916	0.83[ASN][1000 genomes]
rs2893917	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34185469	0.82[ASN][1000 genomes]
rs35394453	0.99[ASN][1000 genomes]
rs4478400	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711151	0.81[ASN][1000 genomes]
rs4711153	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713101	0.82[ASN][1000 genomes]
rs4713104	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713105	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4713106	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713107	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713109	0.92[ASN][1000 genomes]
rs55705181	0.84[ASN][1000 genomes]
rs57647048	0.86[ASN][1000 genomes]
rs62401365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456784	0.82[ASN][1000 genomes]
rs6456785	0.82[ASN][1000 genomes]
rs6456786	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6456788	0.92[ASN][1000 genomes]
rs6456789	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6456791	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6650992	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6899780	0.86[ASN][1000 genomes]
rs6899950	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6903282	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6904844	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6908086	0.86[ASN][1000 genomes]
rs6911865	0.92[ASN][1000 genomes]
rs6914542	0.86[ASN][1000 genomes]
rs6914585	0.86[ASN][1000 genomes]
rs6918131	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6918794	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6920010	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920408	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920733	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921071	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926142	0.83[ASN][1000 genomes]
rs6928314	0.82[ASN][1000 genomes]
rs6929812	0.82[ASN][1000 genomes]
rs6931659	0.88[ASN][1000 genomes]
rs6933354	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938689	0.81[EUR][1000 genomes]
rs726830	0.94[ASN][1000 genomes]
rs7509	0.98[ASN][1000 genomes]
rs760880	0.86[ASN][1000 genomes]
rs764460	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs764461	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7741031	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743443	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7743465	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7744110	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7745380	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747283	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7747444	0.83[ASN][1000 genomes]
rs7748366	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7750795	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754086	0.82[ASN][1000 genomes]
rs7754678	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7754724	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7754977	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7756216	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756377	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7764070	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764634	0.95[ASN][1000 genomes]
rs7771590	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7771598	0.82[ASN][1000 genomes]
rs7772160	0.96[ASN][1000 genomes]
rs7774613	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7776338	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9468134	0.83[AFR][1000 genomes]
rs9468140	0.92[ASN][1000 genomes]
rs9468141	0.92[ASN][1000 genomes]
rs979352	0.86[ASN][1000 genomes]
rs979353	0.86[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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12215117	ZNF391	cis	Esophagus Muscularis	GTEx
rs12215117	ZNF391	cis	Nerve Tibial	GTEx
rs12215117	ZNF391	cis	lung	GTEx
rs12215117	ZNF391	cis	Artery Tibial	GTEx
rs12215117	ZNF391	cis	Heart Left Ventricle	GTEx
rs12215117	ZNF391	cis	Skin Sun Exposed Lower leg	GTEx
rs12215117	BRP44	trans	lymphoblastoid	RTeQTL
rs12215117	ZNF391	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27445000-27447800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:27445000-27448000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27445000-27448000	Active TSS	NHLF	lung
4	chr6:27445200-27448000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:27445400-27447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:27445400-27448000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:27445400-27448000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:27445400-27448000	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:27445600-27448000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:27445600-27448000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:27445600-27448000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:27445600-27448000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:27445800-27447600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr6:27445800-27447800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:27445800-27447800	Active TSS	Fetal Stomach	stomach
16	chr6:27445800-27447800	Active TSS	Right Ventricle	heart
17	chr6:27445800-27448000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:27445800-27448000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr6:27445800-27448000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:27445800-27448000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:27445800-27448000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:27445800-27448000	Active TSS	Aorta	Aorta
23	chr6:27445800-27448000	Active TSS	Brain Hippocampus Middle	brain
24	chr6:27445800-27448000	Active TSS	Fetal Muscle Trunk	muscle
25	chr6:27445800-27448000	Active TSS	Ovary	ovary
26	chr6:27445800-27448000	Active TSS	Right Atrium	heart
27	chr6:27445800-27448200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:27446000-27447400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:27446000-27447600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:27446000-27447600	Active TSS	Brain Germinal Matrix	brain
31	chr6:27446000-27447800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:27446000-27447800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:27446000-27447800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:27446000-27447800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:27446000-27447800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:27446000-27447800	Active TSS	Colonic Mucosa	Colon
37	chr6:27446000-27448000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:27446200-27447400	Active TSS	Gastric	stomach
39	chr6:27446200-27447600	Active TSS	Esophagus	oesophagus
40	chr6:27446200-27447600	Active TSS	Lung	lung
41	chr6:27446200-27447800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:27446200-27447800	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr6:27446200-27447800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr6:27446200-27447800	Active TSS	Fetal Intestine Small	intestine
45	chr6:27446200-27447800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr6:27446200-27448000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:27446200-27448000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:27446200-27448000	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:27446200-27448000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:27446200-27448000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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