Variant report

Variant	rs72951591
Chromosome Location	chr4:151176638-151176639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151171638..151173880-chr4:151176140..151178185,2	K562	blood:
2	chr4:151175795..151178374-chr4:151178941..151181154,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56658749	1.00[AMR][1000 genomes]
rs57086689	1.00[AMR][1000 genomes]
rs57376312	1.00[AMR][1000 genomes]
rs58813780	1.00[AMR][1000 genomes]
rs60502732	1.00[AMR][1000 genomes]
rs72951564	0.83[AFR][1000 genomes]
rs72951571	0.83[AFR][1000 genomes]
rs72951577	0.83[AFR][1000 genomes]
rs72953824	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953841	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72955804	1.00[AMR][1000 genomes]
rs72955849	1.00[AMR][1000 genomes]
rs72955891	1.00[AMR][1000 genomes]
rs72955896	1.00[AMR][1000 genomes]
rs72957808	1.00[AMR][1000 genomes]
rs72967205	1.00[AMR][1000 genomes]
rs72967244	1.00[AMR][1000 genomes]
rs72967249	1.00[AMR][1000 genomes]
rs72969281	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022132	chr4:151162048-151183859	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv880258	chr4:151171082-151190804	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:151158000-151181000	Weak transcription	Fetal Heart	heart
4	chr4:151160000-151185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:151161600-151177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:151164000-151177400	Weak transcription	Placenta	Placenta
7	chr4:151166400-151177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:151166400-151178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:151166400-151181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:151166400-151199000	Weak transcription	Gastric	stomach
11	chr4:151166600-151181000	Weak transcription	Fetal Kidney	kidney
12	chr4:151168000-151178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:151169800-151181000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:151170000-151187000	Weak transcription	NH-A	brain
15	chr4:151170000-151199000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:151171200-151186800	Weak transcription	Pancreas	Pancrea
17	chr4:151171400-151177000	Weak transcription	Lung	lung
18	chr4:151171800-151177000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:151171800-151177400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:151172000-151181000	Weak transcription	Spleen	Spleen
21	chr4:151172000-151185400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:151172800-151179400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:151172800-151185400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:151172800-151188200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:151172800-151201600	Weak transcription	GM12878-XiMat	blood
26	chr4:151173000-151179600	Strong transcription	Brain Germinal Matrix	brain
27	chr4:151173000-151180000	Strong transcription	HSMMtube	muscle
28	chr4:151173000-151182200	Strong transcription	Fetal Brain Female	brain
29	chr4:151173000-151184600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:151173200-151177000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:151173200-151178600	Strong transcription	Osteobl	bone
32	chr4:151173200-151192000	Weak transcription	Fetal Brain Male	brain
33	chr4:151173400-151177600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:151173400-151178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:151173400-151178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:151173400-151183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:151173400-151184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:151173400-151201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:151173600-151180800	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:151173800-151179200	Strong transcription	Fetal Muscle Leg	muscle
41	chr4:151173800-151186800	Weak transcription	Aorta	Aorta
42	chr4:151174200-151179400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:151174400-151176800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:151175000-151176800	Weak transcription	Right Ventricle	heart
45	chr4:151175000-151185400	Weak transcription	NHLF	lung
46	chr4:151175400-151177400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:151175400-151177400	Weak transcription	Left Ventricle	heart
48	chr4:151175400-151177600	Weak transcription	A549	lung
49	chr4:151175400-151177800	Enhancers	HepG2	liver
50	chr4:151175400-151188000	Weak transcription	Primary hematopoietic stem cells	blood

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