Variant report

Variant	rs3020726
Chromosome Location	chr2:87016506-87016507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10173742	0.83[EUR][1000 genomes]
rs1051386	0.84[EUR][1000 genomes]
rs12994456	1.00[ASN][1000 genomes]
rs13019439	1.00[ASN][1000 genomes]
rs13023213	1.00[ASN][1000 genomes]
rs13024420	1.00[ASN][1000 genomes]
rs13024609	1.00[ASN][1000 genomes]
rs13032379	1.00[ASN][1000 genomes]
rs1515950	1.00[ASN][1000 genomes]
rs2944251	0.88[EUR][1000 genomes]
rs3020728	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3020729	0.84[EUR][1000 genomes]
rs34198915	1.00[ASN][1000 genomes]
rs34256565	1.00[ASN][1000 genomes]
rs34492196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34546581	1.00[ASN][1000 genomes]
rs34613828	1.00[ASN][1000 genomes]
rs34813683	1.00[ASN][1000 genomes]
rs34855635	1.00[ASN][1000 genomes]
rs34988194	1.00[ASN][1000 genomes]
rs35290870	1.00[ASN][1000 genomes]
rs35437846	1.00[ASN][1000 genomes]
rs35505884	0.97[ASN][1000 genomes]
rs35626322	1.00[ASN][1000 genomes]
rs35723887	1.00[ASN][1000 genomes]
rs35739120	1.00[ASN][1000 genomes]
rs35786939	1.00[ASN][1000 genomes]
rs3810831	1.00[ASN][1000 genomes]
rs4366909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832315	0.85[ASN][1000 genomes]
rs55816457	1.00[ASN][1000 genomes]
rs55817008	1.00[ASN][1000 genomes]
rs6710361	1.00[ASN][1000 genomes]
rs6755452	1.00[ASN][1000 genomes]
rs71411867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71411869	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87012000-87017600	Transcr. at gene 5' and 3'	Thymus	Thymus
2	chr2:87014800-87016800	Bivalent Enhancer	Fetal Lung	lung
3	chr2:87014800-87018200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr2:87015000-87018400	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr2:87015600-87018800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr2:87015800-87016600	Enhancers	Aorta	Aorta
7	chr2:87015800-87016600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
8	chr2:87015800-87016600	Flanking Active TSS	Right Atrium	heart
9	chr2:87015800-87017000	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:87015800-87017200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr2:87016000-87016600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:87016000-87016600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr2:87016000-87016600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr2:87016000-87016600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr2:87016000-87016600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr2:87016000-87016600	Flanking Active TSS	Spleen	Spleen
17	chr2:87016000-87016800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:87016000-87016800	Flanking Active TSS	Gastric	stomach
19	chr2:87016000-87016800	Enhancers	Pancreas	Pancrea
20	chr2:87016000-87017000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:87016000-87017000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr2:87016000-87017000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:87016000-87017000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr2:87016000-87017000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
25	chr2:87016000-87017200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:87016000-87017200	Bivalent Enhancer	Placenta	Placenta
27	chr2:87016000-87017400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr2:87016000-87017400	Bivalent Enhancer	Liver	Liver
29	chr2:87016000-87017600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:87016000-87017800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr2:87016000-87018000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr2:87016000-87018200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:87016000-87018200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr2:87016000-87018400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:87016000-87018600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:87016000-87018600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
37	chr2:87016000-87019000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr2:87016200-87016600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:87016200-87016600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr2:87016200-87016600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr2:87016200-87016600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
46	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
47	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr2:87016200-87016600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr2:87016200-87016600	Bivalent Enhancer	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links