Variant report

Variant	rs12146806
Chromosome Location	chr12:50926704-50926705
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50926684..50928595-chr12:50975445..50977856,2	MCF-7	breast:
2	chr12:50925303..50926862-chr12:51010690..51012401,2	MCF-7	breast:
3	chr12:50925309..50926923-chr12:51156739..51159439,3	K562	blood:
4	chr12:50924997..50928021-chr12:51009408..51011641,3	MCF-7	breast:
5	chr12:50919290..50923217-chr12:50923759..50928110,5	MCF-7	breast:
6	chr12:50926579..50928860-chr12:50929720..50933357,5	MCF-7	breast:
7	chr12:50899485..50901952-chr12:50925003..50926748,2	MCF-7	breast:
8	chr12:50924992..50927845-chr12:50972241..50975233,2	MCF-7	breast:
9	chr12:50925165..50930036-chr12:51011670..51016786,5	MCF-7	breast:
10	chr12:50925067..50926817-chr12:51027774..51030110,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11169464	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169472	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302810	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321891	0.86[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	0.86[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253376	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2700476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2731448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs7976281	1.00[MEX][hapmap]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943796	1.00[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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
2	chr12:50911600-50939800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50914800-50926800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:50916400-50931600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50918800-50938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:50920200-50939600	Weak transcription	Fetal Heart	heart
7	chr12:50920400-50927000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:50920400-50931400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:50920800-50929200	Weak transcription	Fetal Stomach	stomach
10	chr12:50920800-50939400	Weak transcription	Fetal Brain Female	brain
11	chr12:50920800-50939800	Weak transcription	Fetal Brain Male	brain
12	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:50921000-50929200	Enhancers	Liver	Liver
14	chr12:50921000-50939400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:50921000-50940200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:50921200-50927200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:50921200-50939800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:50922800-50927600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:50923400-50939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:50923600-50926800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:50923600-50928600	Weak transcription	Ovary	ovary
22	chr12:50923600-50939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:50924000-50927800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:50924000-50929000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr12:50924200-50927000	Enhancers	HMEC	breast
26	chr12:50924200-50927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:50924200-50929200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:50924400-50931400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:50924600-50928800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:50924600-50929200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:50925000-50928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:50925000-50929000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:50925200-50927400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:50925200-50927400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:50925200-50927400	Enhancers	Colonic Mucosa	Colon
36	chr12:50925200-50927600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:50925200-50927600	Enhancers	Pancreas	Pancrea
38	chr12:50925200-50927600	Enhancers	Right Atrium	heart
39	chr12:50925200-50927600	Enhancers	Spleen	Spleen
40	chr12:50925200-50927800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:50925200-50928000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:50925200-50928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:50925200-50928600	Flanking Active TSS	GM12878-XiMat	blood
44	chr12:50925200-50928800	Enhancers	Primary T cells from cord blood	blood
45	chr12:50925200-50928800	Enhancers	Stomach Mucosa	stomach
46	chr12:50925200-50929000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr12:50925200-50929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:50925200-50929200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:50925200-50929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:50925200-50929200	Enhancers	Small Intestine	intestine

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