Variant report

Variant	rs13194028
Chromosome Location	chr6:127666068-127666069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:127666049-127666103	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:127663062-127666654	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:127665967-127666168	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:127666060-127666350	K562	blood:	n/a	n/a
5	POLR2A	chr6:127664260-127668489	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127665440..127667332-chr6:127741973..127744614,2	MCF-7	breast:
2	chr6:127586417..127590637-chr6:127662350..127666578,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF146-3	chr6:127664772-127666472	NONHSAT114850

No data

Variant related genes	Relation type
ECHDC1	TF binding region
ENSG00000118518	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10457501	1.00[ASN][1000 genomes]
rs11154410	1.00[ASN][1000 genomes]
rs11154413	1.00[ASN][1000 genomes]
rs11759744	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962618	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965031	1.00[ASN][1000 genomes]
rs12194762	1.00[ASN][1000 genomes]
rs13193647	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272843	1.00[ASN][1000 genomes]
rs34239340	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34362686	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237558	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36000432	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285272	1.00[ASN][1000 genomes]
rs4321843	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909829	1.00[ASN][1000 genomes]
rs6910292	1.00[ASN][1000 genomes]
rs6914921	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932990	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937964	1.00[ASN][1000 genomes]
rs6939662	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738747	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761452	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772035	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9321092	1.00[ASN][1000 genomes]
rs9388581	1.00[ASN][1000 genomes]
rs9401964	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604641	chr6:127657099-127719062	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3434083	chr6:127665998-127670132	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127663800-127666200	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:127665400-127666600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:127665600-127666200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:127665600-127666200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:127665600-127666200	Flanking Active TSS	GM12878-XiMat	blood
6	chr6:127665600-127666200	Flanking Active TSS	HepG2	liver
7	chr6:127665600-127666200	Flanking Active TSS	HMEC	breast
8	chr6:127665600-127666200	Flanking Active TSS	HSMMtube	muscle
9	chr6:127665600-127666400	Flanking Active TSS	Dnd41	blood
10	chr6:127665800-127666200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:127665800-127666200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:127665800-127666200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:127665800-127666200	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:127665800-127666200	Enhancers	Pancreas	Pancrea
15	chr6:127665800-127666200	Enhancers	Right Atrium	heart
16	chr6:127665800-127666200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:127665800-127666400	Enhancers	Primary B cells from cord blood	blood
18	chr6:127665800-127666600	Enhancers	Lung	lung
19	chr6:127665800-127667000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:127665800-127667600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:127665800-127668000	Weak transcription	A549	lung
22	chr6:127665800-127669600	Weak transcription	Gastric	stomach
23	chr6:127665800-127670000	Weak transcription	Esophagus	oesophagus
24	chr6:127665800-127670800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:127665800-127671200	Weak transcription	Right Ventricle	heart
26	chr6:127665800-127671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:127665800-127672400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:127666000-127666200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:127666000-127666200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:127666000-127666200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:127666000-127666200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:127666000-127666200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:127666000-127666200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:127666000-127666200	Active TSS	Adipose Nuclei	Adipose
35	chr6:127666000-127666200	Active TSS	HSMM	muscle
36	chr6:127666000-127666200	Flanking Active TSS	K562	blood
37	chr6:127666000-127666200	Enhancers	NH-A	brain
38	chr6:127666000-127666200	Enhancers	Osteobl	bone
39	chr6:127666000-127666400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:127666000-127666400	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:127666000-127666600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:127666000-127666600	Enhancers	Hela-S3	cervix
43	chr6:127666000-127667000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:127666000-127667000	Enhancers	NHEK	skin
45	chr6:127666000-127667600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:127666000-127668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:127666000-127668000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:127666000-127668000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:127666000-127668000	Weak transcription	Liver	Liver
50	chr6:127666000-127668200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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