Variant report

Variant	rs73444595
Chromosome Location	chr6:45609937-45609938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:45609895-45609945	GM19239	blood:	n/a
2	chr6:45609895-45609945	HCT-116	colon:	n/a
3	chr6:45609895-45609945	GM12892	blood:	n/a
4	chr6:45609895-45609945	GM12878	blood:	n/a
5	chr6:45609895-45609945	HRE	kidney:	n/a
6	chr6:45609895-45609945	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:45609895-45609945	Jurkat	blood:	n/a
8	chr6:45609895-45609945	NHDF-neo	bronchial:	n/a
9	chr6:45609895-45609945	K562	blood:	n/a
10	chr6:45609895-45609945	NT2-D1	testis:	n/a
11	chr6:45609895-45609945	MCF10A-Er-Src	breast:	n/a
12	chr6:45609895-45609945	SK-N-SH_RA	brain:	n/a
13	chr6:45609895-45609945	LNCaP	prostate:	n/a
14	chr6:45609895-45609945	HUVEC	blood vessel:	n/a
15	chr6:45609895-45609945	HAEpiC	amniotic membrane:	n/a
16	chr6:45609895-45609945	AG04450	lung:	fetal
17	chr6:45609895-45609945	GM12891	blood:	n/a
18	chr6:45609895-45609945	U87	brain:	n/a
19	chr6:45609895-45609945	HRPEpiC	eye:	n/a
20	chr6:45609895-45609945	NB4	blood:	n/a
21	chr6:45609895-45609945	HCM	heart:	n/a
22	chr6:45609895-45609945	HIPEpiC	eye:	n/a
23	chr6:45609895-45609945	HCF	heart:	n/a
24	chr6:45609895-45609945	AG09319	gingival:	n/a
25	chr6:45609895-45609945	RPTEC	kidney:	n/a
26	chr6:45609895-45609945	NH-A	brain:	n/a
27	chr6:45609895-45609945	NHBE	bronchial:	n/a
28	chr6:45609895-45609945	SKMC	muscle:	n/a
29	chr6:45609895-45609945	HL-60	blood:	n/a
30	chr6:45609895-45609945	Caco-2	colon:	n/a
31	chr6:45609895-45609945	HepG2	liver:	n/a
32	chr6:45609895-45609945	GM06990	blood:	n/a
33	chr6:45609895-45609945	Hepatocyte	liver:	n/a
34	chr6:45609895-45609945	HNPCEpiC	eye:	n/a
35	chr6:45609895-45609945	AG10803	skin:	n/a
36	chr6:45609895-45609945	BJ	skin:	n/a
37	chr6:45609895-45609945	PANC-1	pancreas:	n/a
38	chr6:45609895-45609945	HCPEpiC	choroid plexus:	n/a
39	chr6:45609895-45609945	MCF-7	breast:	n/a
40	chr6:45609895-45609945	Hela-S3	cervix:	n/a
41	chr6:45609895-45609945	SAEC	small airway:	n/a
42	chr6:45609895-45609945	HEK293	kidney:	embryo
43	chr6:45609895-45609945	SK-N-MC	brain:	n/a
44	chr6:45609895-45609945	AG04449	skin:	fetal
45	chr6:45609895-45609945	ovcar-3	ovarian:	n/a
46	chr6:45609895-45609945	HMEC	breast:	n/a
47	chr6:45609895-45609945	SK-N-SH	brain:	n/a
48	chr6:45609895-45609945	A549	lung:	n/a
49	chr6:45609895-45609945	BE2_C	brain:	n/a
50	chr6:45609895-45609945	AG09309	skin:	n/a

No data

Variant related genes	Relation type
RNU6-515P	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56054143	1.00[AMR][1000 genomes]
rs57853251	1.00[AMR][1000 genomes]
rs58112491	1.00[AMR][1000 genomes]
rs58407953	1.00[AMR][1000 genomes]
rs58844599	1.00[AMR][1000 genomes]
rs60294597	1.00[AMR][1000 genomes]
rs60588484	1.00[AMR][1000 genomes]
rs60643594	1.00[AMR][1000 genomes]
rs73735411	1.00[AMR][1000 genomes]
rs73735414	1.00[AMR][1000 genomes]
rs73735422	1.00[AMR][1000 genomes]
rs73735426	1.00[AMR][1000 genomes]
rs73735427	1.00[AMR][1000 genomes]
rs73735428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45608400-45610000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:45608400-45610400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:45608400-45611000	Weak transcription	NHLF	lung
4	chr6:45608400-45615200	Weak transcription	NH-A	brain
5	chr6:45608600-45617800	Weak transcription	Osteobl	bone
6	chr6:45608800-45610400	Enhancers	Fetal Lung	lung
7	chr6:45608800-45611000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:45608800-45611000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:45608800-45614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:45608800-45616800	Weak transcription	NHDF-Ad	bronchial
11	chr6:45609000-45610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:45609000-45616000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:45609200-45610000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:45609600-45610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:45609800-45610000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr6:45609800-45610000	Enhancers	Fetal Intestine Small	intestine

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