Variant report

Variant	rs72917431
Chromosome Location	chr3:85009000-85009001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28409084	0.86[AFR][1000 genomes]
rs28422781	0.86[AFR][1000 genomes]
rs28711631	0.86[AFR][1000 genomes]
rs6549008	0.86[AFR][1000 genomes]
rs6549010	0.86[AFR][1000 genomes]
rs6799413	1.00[AFR][1000 genomes]
rs72917433	1.00[AFR][1000 genomes]
rs72917440	1.00[AFR][1000 genomes]
rs7630362	0.86[AFR][1000 genomes]
rs7636250	0.86[AFR][1000 genomes]
rs7638859	0.86[AFR][1000 genomes]
rs7645787	0.86[AFR][1000 genomes]
rs7647977	0.86[AFR][1000 genomes]
rs9754888	0.86[AFR][1000 genomes]
rs9754924	0.86[AFR][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	esv3381298	chr3:84689266-85030314	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers 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
2	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1001316	chr3:84773522-85071342	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv877091	chr3:84876250-85069287	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv482371	chr3:84880813-85031486	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv471620	chr3:84880814-85031486	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1829788	chr3:84926769-85086403	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1010140	chr3:84997012-85034281	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85007200-85009600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:85007200-85011800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr3:85007200-85012400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:85007200-85012600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:85007400-85009200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:85007400-85009200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:85007400-85009600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:85007400-85009800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr3:85007400-85009800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:85007400-85011200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:85007400-85011600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:85007400-85012000	Active TSS	Brain Cingulate Gyrus	brain
13	chr3:85007600-85009200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr3:85007600-85009200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:85007600-85009200	Active TSS	Aorta	Aorta
16	chr3:85007600-85009600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr3:85007600-85010000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:85007600-85010000	ZNF genes & repeats	Spleen	Spleen
19	chr3:85007600-85010200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:85007600-85011000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:85007600-85011200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:85007600-85012200	Active TSS	Brain Anterior Caudate	brain
23	chr3:85007800-85009200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr3:85007800-85009800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:85007800-85009800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr3:85007800-85010600	Active TSS	Fetal Brain Male	brain
27	chr3:85007800-85011200	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr3:85007800-85011400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:85007800-85011400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:85007800-85012000	Active TSS	Brain Hippocampus Middle	brain
31	chr3:85007800-85012200	Active TSS	Brain Substantia Nigra	brain
32	chr3:85007800-85012600	Active TSS	Brain Angular Gyrus	brain
33	chr3:85008000-85009200	Bivalent Enhancer	Placenta	Placenta
34	chr3:85008200-85009000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr3:85008200-85009000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr3:85008200-85009200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:85008200-85009200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:85008200-85009200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr3:85008200-85009200	Flanking Active TSS	Gastric	stomach
40	chr3:85008200-85009200	Flanking Active TSS	Lung	lung
41	chr3:85008200-85009400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:85008200-85009400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:85008200-85009400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr3:85008200-85009400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr3:85008400-85009000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:85008400-85009000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr3:85008400-85009200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:85008400-85009200	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr3:85008400-85009400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr3:85008400-85010200	Bivalent/Poised TSS	Fetal Brain Female	brain

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