Variant report

Variant	rs2286007
Chromosome Location	chr12:971291-971292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10849563	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11064519	1.00[JPT][hapmap]
rs11064560	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs1159744	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2107612	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2107613	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2158502	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs2369402	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3858703	1.00[JPT][hapmap]
rs61916740	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61916747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489746	1.00[JPT][hapmap]
rs765250	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7972667	1.00[JPT][hapmap]
rs956695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
9	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	esv3693103	chr12:837113-971317	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
20	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
21	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:916400-977200	Weak transcription	Gastric	stomach
2	chr12:928200-994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:933600-971400	Weak transcription	Fetal Brain Male	brain
4	chr12:939600-977000	Weak transcription	Pancreas	Pancrea
5	chr12:940400-971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:958600-972000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:960800-974000	Weak transcription	Small Intestine	intestine
8	chr12:960800-977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:961000-977000	Weak transcription	Aorta	Aorta
10	chr12:961000-980200	Weak transcription	Fetal Heart	heart
11	chr12:962200-1002600	Strong transcription	Dnd41	blood
12	chr12:962200-1012400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:962800-974200	Strong transcription	Fetal Thymus	thymus
14	chr12:963600-988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:964200-979000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:964200-1007600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:965000-980200	Weak transcription	Stomach Mucosa	stomach
20	chr12:965200-971800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:965200-979000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:965200-983800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:965800-976000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:965800-978600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:965800-978800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:965800-981000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:965800-984000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:965800-984800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:965800-985000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:965800-1014000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:966000-971800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:966000-972400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:966000-974800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:966000-975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:966000-980800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:966000-985400	Strong transcription	Placenta	Placenta
38	chr12:966000-1002200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:966000-1012200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:966000-1014800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:966200-972000	Strong transcription	Thymus	Thymus
42	chr12:966200-974600	Strong transcription	HepG2	liver
43	chr12:966200-975600	Strong transcription	Adipose Nuclei	Adipose
44	chr12:966200-978400	Strong transcription	Fetal Intestine Large	intestine
45	chr12:966400-971800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:966400-972000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:966400-972400	Strong transcription	Fetal Lung	lung
48	chr12:966400-972800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:966400-973000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:966600-972800	Strong transcription	Duodenum Mucosa	Duodenum

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