Variant report

Variant	rs446851
Chromosome Location	chr6:88043640-88043641
allele	A/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	CEBPB	chr6:88043501-88043702	HepG2	liver:	n/a	n/a
2	STAT3	chr6:88043497-88043697	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr6:88043579-88043833	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr6:88043537-88043835	K562	blood:	n/a	chr6:88043739-88043749
5	CEBPB	chr6:88043390-88043722	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr6:88043483-88043683	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:88043408-88043686	MCF10A-Er-Src	breast:	n/a	n/a
8	KAP1	chr6:88043367-88043932	HEK293	kidney:	n/a	n/a
9	MAX	chr6:88043588-88043914	NB4	blood:	n/a	chr6:88043739-88043749
10	KAP1	chr6:88043409-88043863	U2OS	brain:	n/a	n/a
11	MAX	chr6:88043530-88043842	K562	blood:	n/a	chr6:88043739-88043749
12	MYC	chr6:88043484-88043651	MCF10A-Er-Src	breast:	n/a	n/a
13	USF1	chr6:88043508-88043885	K562	blood:	n/a	n/a
14	MYC	chr6:88043571-88043793	K562	blood:	n/a	chr6:88043739-88043749
15	FOS	chr6:88043407-88043686	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:88043475-88043703	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr6:88043399-88043713	K562	blood:	n/a	n/a
18	ATF1	chr6:88043598-88043928	K562	blood:	n/a	n/a
19	CEBPB	chr6:88043397-88043709	IMR90	lung:	n/a	n/a
20	MYC	chr6:88043487-88043712	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GJB7	TF binding region

Extended variants
information (count: 167 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs107689	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs107690	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1080595	0.84[EUR][1000 genomes]
rs1080596	0.84[EUR][1000 genomes]
rs1201409	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12176253	0.86[ASN][1000 genomes]
rs12190280	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12207825	0.85[EUR][1000 genomes]
rs12664578	0.84[EUR][1000 genomes]
rs173333	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753154	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1813847	0.84[EUR][1000 genomes]
rs1813848	0.84[EUR][1000 genomes]
rs183599	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1886751	0.84[EUR][1000 genomes]
rs1886752	0.84[EUR][1000 genomes]
rs1925688	0.84[EUR][1000 genomes]
rs1925695	0.84[EUR][1000 genomes]
rs1980790	0.84[EUR][1000 genomes]
rs1980792	0.84[EUR][1000 genomes]
rs2025630	0.84[EUR][1000 genomes]
rs2031518	0.83[EUR][1000 genomes]
rs2147919	0.83[EUR][1000 genomes]
rs2147920	0.84[EUR][1000 genomes]
rs2147921	0.84[EUR][1000 genomes]
rs2182181	0.83[EUR][1000 genomes]
rs2240459	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240460	0.84[ASN][1000 genomes]
rs242267	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242270	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242278	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242279	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242280	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242281	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242283	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242285	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242286	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242287	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2474349	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2985039	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367353	0.80[EUR][1000 genomes]
rs369674	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734187	0.84[ASN][1000 genomes]
rs373646	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376633	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812130	0.86[ASN][1000 genomes]
rs3812132	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs381782	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3846773	0.83[ASN][1000 genomes]
rs3846774	0.83[ASN][1000 genomes]
rs3846775	0.83[ASN][1000 genomes]
rs3846776	0.83[ASN][1000 genomes]
rs3857485	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857488	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs390272	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3903920	0.85[EUR][1000 genomes]
rs3904088	0.85[EUR][1000 genomes]
rs395358	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4110984	0.85[EUR][1000 genomes]
rs4110985	0.85[EUR][1000 genomes]
rs4269346	0.83[EUR][1000 genomes]
rs445434	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447077	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448580	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4489129	0.83[EUR][1000 genomes]
rs451089	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs451465	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451829	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4540237	0.82[EUR][1000 genomes]
rs4591818	0.83[ASN][1000 genomes]
rs4605853	0.84[EUR][1000 genomes]
rs4706289	0.84[EUR][1000 genomes]
rs4707346	0.84[EUR][1000 genomes]
rs4707347	0.85[EUR][1000 genomes]
rs4707351	0.84[EUR][1000 genomes]
rs4707352	0.84[EUR][1000 genomes]
rs4707356	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4707357	0.86[ASN][1000 genomes]
rs4707358	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499373	0.85[EUR][1000 genomes]
rs586771	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6454584	0.83[EUR][1000 genomes]
rs6454587	0.83[EUR][1000 genomes]
rs6454588	0.83[EUR][1000 genomes]
rs6454591	0.84[EUR][1000 genomes]
rs6454592	0.84[EUR][1000 genomes]
rs6454594	0.84[EUR][1000 genomes]
rs6454595	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6454596	0.86[ASN][1000 genomes]
rs6454597	0.84[ASN][1000 genomes]
rs6454598	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6454599	0.85[ASN][1000 genomes]
rs6454600	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6899394	0.86[ASN][1000 genomes]
rs6903219	0.85[EUR][1000 genomes]
rs6904310	0.84[EUR][1000 genomes]
rs6909021	0.84[EUR][1000 genomes]
rs6909200	0.84[EUR][1000 genomes]
rs6910991	0.83[ASN][1000 genomes]
rs6913721	0.84[EUR][1000 genomes]
rs6914193	0.85[EUR][1000 genomes]
rs6916994	0.86[ASN][1000 genomes]
rs6917432	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6921007	0.86[ASN][1000 genomes]
rs6921504	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6921619	0.84[EUR][1000 genomes]
rs6925648	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6926831	0.87[EUR][1000 genomes]
rs6932678	0.83[ASN][1000 genomes]
rs6934603	0.86[ASN][1000 genomes]
rs6937874	0.86[ASN][1000 genomes]
rs6940544	0.86[ASN][1000 genomes]
rs7453986	0.86[ASN][1000 genomes]
rs7739034	0.84[EUR][1000 genomes]
rs7739726	0.84[EUR][1000 genomes]
rs7742478	0.84[EUR][1000 genomes]
rs7746545	0.85[EUR][1000 genomes]
rs7747129	0.84[EUR][1000 genomes]
rs7748191	0.83[EUR][1000 genomes]
rs7748879	0.80[EUR][1000 genomes]
rs7751029	0.83[EUR][1000 genomes]
rs7752485	0.85[EUR][1000 genomes]
rs7752882	0.85[EUR][1000 genomes]
rs7753030	0.86[ASN][1000 genomes]
rs7755244	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7757199	0.84[EUR][1000 genomes]
rs7757827	0.82[EUR][1000 genomes]
rs7758618	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7763365	0.84[EUR][1000 genomes]
rs7766324	0.84[EUR][1000 genomes]
rs7767449	0.84[EUR][1000 genomes]
rs7768575	0.84[EUR][1000 genomes]
rs7776407	0.84[EUR][1000 genomes]
rs910563	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9294367	0.84[EUR][1000 genomes]
rs9294370	0.83[EUR][1000 genomes]
rs9294371	0.81[EUR][1000 genomes]
rs9294372	0.84[EUR][1000 genomes]
rs9344690	0.84[EUR][1000 genomes]
rs9344693	0.87[EUR][1000 genomes]
rs9344695	0.83[ASN][1000 genomes]
rs9344696	0.86[ASN][1000 genomes]
rs9344697	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9351117	0.84[EUR][1000 genomes]
rs9351124	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9353462	0.84[EUR][1000 genomes]
rs9353463	0.84[EUR][1000 genomes]
rs9353464	0.85[EUR][1000 genomes]
rs9353465	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9353468	0.84[ASN][1000 genomes]
rs9353473	0.86[ASN][1000 genomes]
rs9353483	0.85[EUR][1000 genomes]
rs9359743	0.86[ASN][1000 genomes]
rs9359748	0.85[EUR][1000 genomes]
rs9362398	0.83[EUR][1000 genomes]
rs9362401	0.81[EUR][1000 genomes]
rs9362408	0.84[EUR][1000 genomes]
rs9362415	0.84[ASN][1000 genomes]
rs9362417	0.85[ASN][1000 genomes]
rs9362427	0.84[EUR][1000 genomes]
rs9444479	0.84[EUR][1000 genomes]
rs9450634	0.83[EUR][1000 genomes]
rs9450647	0.86[ASN][1000 genomes]
rs9450650	0.86[ASN][1000 genomes]
rs9450652	0.86[ASN][1000 genomes]
rs994170	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5386	chr6:88038551-88044921	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs446851	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs446851	C6orf164	cis	Whole Blood	GTEx
rs446851	C6orf164	cis	Esophagus Muscularis	GTEx
rs446851	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs446851	C6orf164	cis	Skin Sun Exposed Lower leg	GTEx
rs446851	SLC35A1	cis	multi-tissue	Pritchard
rs446851	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs446851	C6orf164	cis	Thyroid	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88033000-88049000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:88033000-88055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:88033200-88045200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:88033200-88045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:88033200-88048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:88033200-88056400	Weak transcription	Liver	Liver
7	chr6:88033200-88062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:88039000-88044200	Weak transcription	Hela-S3	cervix
9	chr6:88039000-88051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:88039000-88068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:88039000-88078400	Weak transcription	Fetal Stomach	stomach
12	chr6:88039200-88046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:88039400-88047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:88039400-88061200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:88039600-88046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:88039800-88044400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:88039800-88051000	Weak transcription	GM12878-XiMat	blood
18	chr6:88040200-88075800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:88040600-88116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:88040800-88052600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:88041000-88044400	Weak transcription	Primary B cells from cord blood	blood
22	chr6:88042400-88045000	Enhancers	K562	blood
23	chr6:88042400-88046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:88042600-88044800	Enhancers	Left Ventricle	heart
25	chr6:88042800-88043800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:88042800-88044000	Enhancers	Fetal Muscle Leg	muscle
27	chr6:88042800-88044400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:88042800-88044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:88042800-88044400	Enhancers	Fetal Thymus	thymus
30	chr6:88042800-88044400	Enhancers	Lung	lung
31	chr6:88042800-88045000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:88042800-88045000	Enhancers	Right Ventricle	heart
33	chr6:88042800-88045800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:88043000-88044000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:88043000-88044000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:88043000-88044400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:88043000-88044400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:88043000-88044400	Enhancers	Osteobl	bone
39	chr6:88043000-88044800	Enhancers	Right Atrium	heart
40	chr6:88043000-88045200	Enhancers	NHLF	lung
41	chr6:88043200-88043800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:88043200-88044000	Enhancers	Dnd41	blood
43	chr6:88043200-88044200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:88043200-88044400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:88043200-88044400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr6:88043200-88045000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:88043400-88043800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:88043400-88043800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:88043400-88043800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr6:88043400-88044000	Genic enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links