Variant report

Variant	rs12465268
Chromosome Location	chr2:205994522-205994523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10175054	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10932097	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1100394	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11899425	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12466722	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12466813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12477364	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12477797	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13427801	0.84[ASN][1000 genomes]
rs1347305	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1368942	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1510774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs16836942	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16836950	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16836961	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16837000	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16837012	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16837019	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16837021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1897781	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35505346	0.91[ASN][1000 genomes]
rs4675499	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4675501	0.86[EUR][1000 genomes]
rs62172701	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6435271	0.84[ASN][1000 genomes]
rs6435272	0.83[ASN][1000 genomes]
rs73057184	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7560015	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7565979	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs849106	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs849107	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs849110	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs849115	0.93[AMR][1000 genomes]
rs849116	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs849120	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs849121	0.95[ASN][1000 genomes]
rs849124	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs849129	0.81[ASN][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875729	chr2:205972555-206027314	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
3	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
4	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
5	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
7	chr2:205982400-205997400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:205982600-205994600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:205982600-206003000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:205984600-205998000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:205986000-206004400	Weak transcription	Stomach Mucosa	stomach
12	chr2:205989000-206003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:205990200-205996800	Weak transcription	Placenta	Placenta
14	chr2:205990600-206003000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:205990600-206005600	Weak transcription	Left Ventricle	heart
16	chr2:205990800-205998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:205991000-206002800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:205991000-206004200	Weak transcription	Adipose Nuclei	Adipose
19	chr2:205991000-206004600	Weak transcription	Fetal Intestine Large	intestine
20	chr2:205991000-206036600	Weak transcription	HSMM	muscle
21	chr2:205992600-205995600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:205993000-205995600	Enhancers	Primary T cells from cord blood	blood
23	chr2:205993200-205994800	Enhancers	Fetal Lung	lung
24	chr2:205993200-205995600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:205993400-205995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:205993600-205995200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:205993600-205995600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:205993600-205995800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:205993600-205995800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:205993800-205994600	Enhancers	Fetal Kidney	kidney
31	chr2:205993800-205994800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:205993800-205995200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:205993800-205995400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:205993800-205995400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:205993800-205995400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:205993800-205995600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:205993800-205995600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:205993800-205995600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:205994000-205994600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:205994000-205994600	Enhancers	Spleen	Spleen
41	chr2:205994000-205995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:205994200-205994600	Enhancers	K562	blood
43	chr2:205994200-205995000	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:205994200-205995400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:205994200-205995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:205994400-205994600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:205994400-205995600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:205994400-205995600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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