Variant report

Variant	rs71559050
Chromosome Location	chr6:27797416-27797417
allele	A/C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110839..27112936-chr6:27796133..27797906,2	K562	blood:
2	chr6:27130895..27132659-chr6:27796327..27798993,2	MCF-7	breast:
3	chr6:27796630..27800125-chr6:28302655..28305022,3	K562	blood:
4	chr6:27797129..27799263-chr6:28192997..28194501,2	K562	blood:
5	chr6:27144382..27146185-chr6:27797360..27798889,2	MCF-7	breast:
6	chr6:26155325..26157964-chr6:27797146..27799688,3	MCF-7	breast:
7	chr6:26249639..26251537-chr6:27797194..27798827,2	MCF-7	breast:
8	chr6:26105269..26107093-chr6:27796301..27798818,2	MCF-7	breast:
9	chr6:26187875..26189403-chr6:27797113..27800006,2	MCF-7	breast:
10	chr6:26053058..26056960-chr6:27797302..27800295,3	MCF-7	breast:
11	chr6:27796980..27799834-chr6:28103780..28105751,2	K562	blood:
12	chr6:27797159..27798965-chr6:28302393..28304986,2	MCF-7	breast:
13	chr6:27098287..27103463-chr6:27796109..27800380,7	K562	blood:
14	chr6:27093465..27120217-chr6:27768366..27817187,256	K562	blood:
15	chr6:26025221..26028451-chr6:27796635..27801025,4	K562	blood:
16	chr6:27134929..27137913-chr6:27796376..27797878,2	MCF-7	breast:
17	chr6:26217009..26218913-chr6:27796165..27797886,2	K562	blood:
18	chr6:26223975..26226167-chr6:27797059..27798988,2	MCF-7	breast:
19	chr6:26025403..26028129-chr6:27797100..27800385,4	MCF-7	breast:
20	chr1:41706342..41708191-chr6:27795840..27798283,2	K562	blood:
21	chr6:27113131..27119021-chr6:27794877..27801018,12	K562	blood:
22	chr6:26278895..26281464-chr6:27797279..27798878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168298	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000010803	Chromatin interaction
ENSG00000235358	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs13192965	0.87[EUR][1000 genomes]
rs13193295	0.85[EUR][1000 genomes]
rs13193480	0.92[EUR][1000 genomes]
rs13193542	0.92[EUR][1000 genomes]
rs13194781	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13195728	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13199649	0.94[EUR][1000 genomes]
rs13199772	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13199906	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13202291	0.91[EUR][1000 genomes]
rs13202295	0.92[EUR][1000 genomes]
rs13210634	0.87[EUR][1000 genomes]
rs13212318	0.89[EUR][1000 genomes]
rs13212651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13215275	0.87[EUR][1000 genomes]
rs13216117	0.93[EUR][1000 genomes]
rs13217620	0.87[EUR][1000 genomes]
rs13218875	0.88[EUR][1000 genomes]
rs175597	0.86[EUR][1000 genomes]
rs17695758	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17749927	0.87[EUR][1000 genomes]
rs17750747	0.92[EUR][1000 genomes]
rs17751184	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17763089	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs200481	0.90[EUR][1000 genomes]
rs200482	0.88[EUR][1000 genomes]
rs200483	0.90[EUR][1000 genomes]
rs200485	0.90[EUR][1000 genomes]
rs200489	0.90[EUR][1000 genomes]
rs200490	0.88[EUR][1000 genomes]
rs200493	0.85[EUR][1000 genomes]
rs200497	0.88[EUR][1000 genomes]
rs200501	0.90[EUR][1000 genomes]
rs200948	0.86[EUR][1000 genomes]
rs200950	0.86[EUR][1000 genomes]
rs200952	0.86[EUR][1000 genomes]
rs200953	0.85[EUR][1000 genomes]
rs200954	0.86[EUR][1000 genomes]
rs200977	0.86[EUR][1000 genomes]
rs200981	0.85[EUR][1000 genomes]
rs200983	0.85[EUR][1000 genomes]
rs200989	0.86[EUR][1000 genomes]
rs200990	0.85[EUR][1000 genomes]
rs200995	0.86[EUR][1000 genomes]
rs200996	0.85[EUR][1000 genomes]
rs201002	0.85[EUR][1000 genomes]
rs2747054	0.90[EUR][1000 genomes]
rs28360499	0.91[EUR][1000 genomes]
rs34064842	0.89[EUR][1000 genomes]
rs34194357	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34295134	0.85[EUR][1000 genomes]
rs34409918	0.89[EUR][1000 genomes]
rs34432857	0.89[EUR][1000 genomes]
rs34706883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34718920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34788973	0.93[EUR][1000 genomes]
rs35037868	0.92[EUR][1000 genomes]
rs35501037	0.92[EUR][1000 genomes]
rs35715914	0.87[EUR][1000 genomes]
rs35819751	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36101351	0.93[EUR][1000 genomes]
rs36116761	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs370155	0.88[EUR][1000 genomes]
rs390764	0.90[EUR][1000 genomes]
rs401754	0.90[EUR][1000 genomes]
rs45509595	0.96[EUR][1000 genomes]
rs483143	0.85[EUR][1000 genomes]
rs493161	0.86[EUR][1000 genomes]
rs557042	0.86[EUR][1000 genomes]
rs56405707	0.87[EUR][1000 genomes]
rs61742093	0.93[EUR][1000 genomes]
rs66868086	0.96[EUR][1000 genomes]
rs67040724	0.93[EUR][1000 genomes]
rs67101035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67652222	0.85[EUR][1000 genomes]
rs71537572	0.85[EUR][1000 genomes]
rs71559038	0.85[EUR][1000 genomes]
rs71559051	0.81[AMR][1000 genomes]
rs71559054	0.93[EUR][1000 genomes]
rs72845046	0.85[EUR][1000 genomes]
rs72845070	0.87[EUR][1000 genomes]
rs72847313	0.92[EUR][1000 genomes]
rs9368531	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
3	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
4	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
5	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71559050	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27791200-27798000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:27792600-27798000	Weak transcription	Fetal Heart	heart
3	chr6:27792800-27798400	Weak transcription	Esophagus	oesophagus
4	chr6:27792800-27798400	Weak transcription	Left Ventricle	heart
5	chr6:27792800-27798400	Weak transcription	Lung	lung
6	chr6:27793000-27798200	Weak transcription	Brain Substantia Nigra	brain
7	chr6:27793200-27797800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27793200-27797800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:27793200-27798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:27793200-27798200	Weak transcription	Right Atrium	heart
11	chr6:27793200-27798200	Weak transcription	Stomach Mucosa	stomach
12	chr6:27793200-27798400	Weak transcription	Colonic Mucosa	Colon
13	chr6:27793400-27797600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:27793400-27797600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:27793400-27797600	Weak transcription	Fetal Lung	lung
16	chr6:27793400-27797600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:27793400-27797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:27793400-27797800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:27793400-27797800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:27793400-27797800	Weak transcription	Brain Anterior Caudate	brain
21	chr6:27793400-27797800	Weak transcription	Fetal Stomach	stomach
22	chr6:27793400-27797800	Weak transcription	NHDF-Ad	bronchial
23	chr6:27793400-27797800	Weak transcription	Osteobl	bone
24	chr6:27793400-27798000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:27793400-27798000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:27793400-27798200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:27793400-27803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:27793600-27797600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:27793600-27797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:27793800-27798200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:27794000-27797800	Weak transcription	Fetal Kidney	kidney
32	chr6:27794600-27797600	Weak transcription	Thymus	Thymus
33	chr6:27794600-27798400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:27794600-27798400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:27795600-27798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:27796200-27797600	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr6:27796600-27797800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:27796800-27797600	Enhancers	HepG2	liver
39	chr6:27796800-27798000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr6:27796800-27798200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr6:27796800-27798200	Flanking Active TSS	Hela-S3	cervix
42	chr6:27796800-27798600	Transcr. at gene 5' and 3'	K562	blood
43	chr6:27797000-27797600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:27797000-27797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:27797000-27797600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:27797000-27797800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:27797000-27797800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:27797000-27797800	Weak transcription	Fetal Intestine Large	intestine
49	chr6:27797000-27798000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:27797000-27799000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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