Variant report

Variant	rs2944251
Chromosome Location	chr2:87017034-87017035
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005834	0.86[ASN][1000 genomes]
rs10173742	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1051386	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12623395	0.86[ASN][1000 genomes]
rs2944250	1.00[ASN][1000 genomes]
rs2944254	0.91[ASN][1000 genomes]
rs3020726	0.88[EUR][1000 genomes]
rs3020728	0.83[EUR][1000 genomes]
rs3020729	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34492196	0.81[EUR][1000 genomes]
rs4366909	0.81[EUR][1000 genomes]
rs4832316	0.84[ASN][1000 genomes]
rs7596329	0.96[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:89 , 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	chr2:87014800-87018200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr2:87015000-87018400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr2:87015600-87018800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr2:87015800-87017200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr2:87016000-87017200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:87016000-87017200	Bivalent Enhancer	Placenta	Placenta
8	chr2:87016000-87017400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:87016000-87017400	Bivalent Enhancer	Liver	Liver
10	chr2:87016000-87017600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:87016000-87017800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr2:87016000-87018000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr2:87016000-87018200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:87016000-87018200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr2:87016000-87018400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:87016000-87018600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:87016000-87018600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
18	chr2:87016000-87019000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr2:87016200-87017200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:87016200-87017200	Bivalent Enhancer	Primary B cells from cord blood	blood
21	chr2:87016200-87017200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr2:87016200-87017200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:87016200-87017200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr2:87016200-87017200	Bivalent Enhancer	Colonic Mucosa	Colon
25	chr2:87016200-87017400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:87016200-87017400	Bivalent Enhancer	Colon Smooth Muscle	Colon
27	chr2:87016200-87017400	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr2:87016200-87017600	Bivalent Enhancer	HMEC	breast
29	chr2:87016200-87017800	Bivalent Enhancer	Left Ventricle	heart
30	chr2:87016200-87018000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:87016200-87018200	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr2:87016200-87018600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr2:87016200-87018600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr2:87016200-87018600	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr2:87016400-87017400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chr2:87016400-87017800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr2:87016400-87018400	Bivalent Enhancer	Fetal Heart	heart
38	chr2:87016400-87018400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
39	chr2:87016600-87017200	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:87016600-87017200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
41	chr2:87016600-87017200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr2:87016600-87017400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
43	chr2:87016600-87017400	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr2:87016600-87017600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:87016600-87017600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:87016600-87017600	Flanking Bivalent TSS/Enh	Spleen	Spleen
47	chr2:87016600-87017800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:87016600-87017800	Bivalent Enhancer	Brain Substantia Nigra	brain
49	chr2:87016600-87018000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:87016600-87018000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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