Variant report

Variant	rs7748873
Chromosome Location	chr6:58277345-58277346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10458023	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12193926	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12194869	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12195326	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12195690	0.85[AFR][1000 genomes]
rs12196605	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12197580	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12202009	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12207196	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12207710	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12216408	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34251831	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35134938	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62414342	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6926125	0.87[AMR][1000 genomes]
rs6930246	0.87[AMR][1000 genomes]
rs6941997	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7749587	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9391384	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv436517	chr6:57696174-58296165	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3332363	chr6:57709182-58454441	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3426791	chr6:57741382-58349943	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3440047	chr6:57766598-58396144	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3372144	chr6:57908014-58519523	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv435830	chr6:57912721-58515824	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3503622	chr6:57916040-58522258	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3503623	chr6:57916040-58522258	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3445656	chr6:57975137-58576488	Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv821647	chr6:58067314-58678227	Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv869817	chr6:58071721-58614002	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv885965	chr6:58075480-58308955	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv523720	chr6:58075480-58770624	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1024377	chr6:58082084-58774716	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv428148	chr6:58137660-58406917	Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1020262	chr6:58140288-58774716	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2760987	chr6:58140300-58774716	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1029158	chr6:58142069-58759016	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1017058	chr6:58165571-58774716	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1026793	chr6:58181781-58422630	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv538259	chr6:58182242-58656519	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1019643	chr6:58213416-58350871	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv1029598	chr6:58213416-58358630	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1030059	chr6:58222882-58377586	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv603237	chr6:58231219-58780055	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
26	nsv885966	chr6:58238236-58333290	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv1024304	chr6:58249544-58377586	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv969409	chr6:58266198-58398028	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv1033219	chr6:58272436-58350871	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1032544	chr6:58272436-58357395	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv1021741	chr6:58272436-58358630	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	nsv1019797	chr6:58272436-58377586	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv1022863	chr6:58272436-58386729	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	nsv462956	chr6:58272623-58357694	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv603238	chr6:58272623-58357694	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58244200-58287200	Weak transcription	Right Ventricle	heart
2	chr6:58250800-58287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:58261400-58286600	Weak transcription	Brain Germinal Matrix	brain
4	chr6:58270000-58285800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:58270200-58287200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:58270600-58287000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:58270800-58286600	Weak transcription	Osteobl	bone
8	chr6:58271000-58278600	Weak transcription	NH-A	brain
9	chr6:58271000-58285800	Weak transcription	HepG2	liver
10	chr6:58271000-58286600	Weak transcription	NHDF-Ad	bronchial
11	chr6:58271000-58287000	Weak transcription	NHEK	skin
12	chr6:58271000-58287000	Weak transcription	NHLF	lung
13	chr6:58271000-58287200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:58271200-58279000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:58271200-58286600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:58271200-58287000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:58271400-58286600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:58271400-58287200	Weak transcription	Pancreas	Pancrea
19	chr6:58271600-58287000	Weak transcription	Colonic Mucosa	Colon
20	chr6:58271600-58287200	Weak transcription	Small Intestine	intestine
21	chr6:58271800-58278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:58271800-58283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:58272000-58287200	Weak transcription	HSMM	muscle
24	chr6:58272400-58277400	Strong transcription	Liver	Liver
25	chr6:58272400-58277800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:58272400-58281200	Weak transcription	Fetal Brain Male	brain
27	chr6:58272400-58287000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:58272400-58287200	Weak transcription	Primary B cells from cord blood	blood
29	chr6:58272600-58278000	Strong transcription	Fetal Stomach	stomach
30	chr6:58272600-58287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:58273000-58277600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr6:58273200-58287000	Weak transcription	HUVEC	blood vessel
33	chr6:58273200-58287200	Weak transcription	Placenta	Placenta
34	chr6:58273400-58277600	Weak transcription	Ovary	ovary
35	chr6:58273400-58286600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:58273400-58286600	Weak transcription	GM12878-XiMat	blood
37	chr6:58273400-58287200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:58273600-58279400	Weak transcription	HMEC	breast
39	chr6:58273600-58286600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:58273600-58287200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:58273600-58287200	Weak transcription	Brain Substantia Nigra	brain
42	chr6:58273800-58278000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:58273800-58282000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:58273800-58282600	Weak transcription	Fetal Thymus	thymus
45	chr6:58273800-58286600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:58273800-58287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:58274000-58282600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:58274000-58282600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:58274000-58286600	Weak transcription	Fetal Kidney	kidney
50	chr6:58274000-58287000	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links