Variant report

Variant	rs12822746
Chromosome Location	chr12:45629357-45629358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45607991..45610370-chr12:45628327..45629895,2	K562	blood:
2	chr12:45607453..45614844-chr12:45624389..45629866,11	K562	blood:
3	chr12:45608270..45616533-chr12:45619913..45631094,20	MCF-7	breast:
4	chr12:45626376..45630112-chr12:45635630..45638658,4	MCF-7	breast:
5	chr12:45608440..45613952-chr12:45624018..45631221,10	MCF-7	breast:
6	chr12:45625441..45631111-chr12:45668814..45675582,6	MCF-7	breast:
7	chr12:45625766..45629467-chr12:45675676..45680562,5	MCF-7	breast:
8	chr12:45628183..45630474-chr12:45646275..45648186,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.82[ASN][1000 genomes]
rs10492284	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785556	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10880758	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880761	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.82[ASN][1000 genomes]
rs10880766	0.82[ASN][1000 genomes]
rs11182898	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182899	0.93[ASN][1000 genomes]
rs11182903	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182915	0.81[AFR][1000 genomes]
rs11182916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.89[ASN][1000 genomes]
rs11182954	0.89[ASN][1000 genomes]
rs11182955	0.89[ASN][1000 genomes]
rs11182957	0.82[ASN][1000 genomes]
rs11561532	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614089	0.82[ASN][1000 genomes]
rs11615850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.82[ASN][1000 genomes]
rs12228733	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.89[ASN][1000 genomes]
rs12815723	0.89[ASN][1000 genomes]
rs12818421	0.86[ASN][1000 genomes]
rs12828052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408185	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032811	0.82[ASN][1000 genomes]
rs35054776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35588430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	0.83[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.89[ASN][1000 genomes]
rs57797434	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954282	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7963038	0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:45614400-45639600	Weak transcription	Dnd41	blood
7	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:45624600-45630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:45624800-45629800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:45624800-45630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:45625000-45629600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:45625200-45629800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:45625200-45629800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:45625200-45629800	Enhancers	Fetal Heart	heart
15	chr12:45625200-45630000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:45625200-45630000	Enhancers	Adipose Nuclei	Adipose
17	chr12:45625200-45630200	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:45625400-45629800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:45625400-45630000	Enhancers	Stomach Mucosa	stomach
20	chr12:45625400-45635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:45625600-45629800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:45625600-45629800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:45625600-45629800	Enhancers	Fetal Intestine Small	intestine
24	chr12:45625600-45630000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:45626000-45629800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:45626200-45630000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:45626400-45630000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:45626600-45629800	Flanking Active TSS	GM12878-XiMat	blood
29	chr12:45627200-45629600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:45627200-45630000	Enhancers	Fetal Muscle Leg	muscle
31	chr12:45627400-45629800	Enhancers	Liver	Liver
32	chr12:45627400-45629800	Enhancers	Fetal Intestine Large	intestine
33	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
34	chr12:45627600-45629400	Weak transcription	Psoas Muscle	Psoas
35	chr12:45627600-45629600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:45627600-45630000	Enhancers	Fetal Lung	lung
37	chr12:45627800-45629800	Enhancers	Brain Anterior Caudate	brain
38	chr12:45627800-45629800	Enhancers	Small Intestine	intestine
39	chr12:45628000-45629400	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:45628000-45629400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:45628000-45629600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:45628000-45629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:45628000-45629800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:45628000-45629800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:45628000-45629800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr12:45628000-45629800	Enhancers	Thymus	Thymus
47	chr12:45628000-45630000	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:45628000-45630000	Enhancers	Fetal Stomach	stomach
49	chr12:45628200-45629600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:45628200-45629800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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