Variant report

Variant	rs11063217
Chromosome Location	chr12:4650782-4650783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4647147..4649763-chr12:4649895..4651987,2	MCF-7	breast:
2	chr12:4645218..4647616-chr12:4650193..4651787,2	K562	blood:

Variant related genes	Relation type
ENSG00000047621	Chromatin interaction
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1029769	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444478	0.90[ASN][1000 genomes]
rs10849083	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849085	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849086	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849087	0.91[ASN][1000 genomes]
rs10849089	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849090	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849091	0.83[ASN][1000 genomes]
rs11063177	0.83[EUR][1000 genomes]
rs11063179	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063181	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063182	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063187	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063188	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063189	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11063191	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11063193	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063194	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063195	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063196	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063197	1.00[ASN][1000 genomes]
rs11063198	0.83[ASN][1000 genomes]
rs11063199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063202	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063205	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063206	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063207	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063213	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063214	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063215	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063220	0.83[ASN][1000 genomes]
rs11063227	0.91[ASN][1000 genomes]
rs11063228	0.91[ASN][1000 genomes]
rs11063230	0.81[ASN][1000 genomes]
rs12314323	0.91[ASN][1000 genomes]
rs12366731	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367035	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907492	0.91[ASN][1000 genomes]
rs2907494	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907495	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907498	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907499	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909380	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909381	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970808	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970810	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970812	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970818	1.00[ASN][1000 genomes]
rs4238020	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4323977	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60388479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61909580	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459910	0.81[ASN][1000 genomes]
rs73037770	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304949	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308641	0.91[ASN][1000 genomes]
rs7314915	0.91[ASN][1000 genomes]
rs7965755	0.91[ASN][1000 genomes]
rs7972086	0.91[ASN][1000 genomes]
rs9971700	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971728	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
3	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
5	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:4648800-4654000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:4648800-4655000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
11	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:4649000-4651200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:4649000-4657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:4649000-4664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
17	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:4649200-4657400	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:4649200-4657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:4649200-4657600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:4649200-4657800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:4649200-4663200	Weak transcription	Fetal Brain Female	brain
26	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
27	chr12:4649400-4651000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:4649400-4653200	Weak transcription	NH-A	brain
29	chr12:4649400-4657000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:4649400-4657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:4649400-4657400	Weak transcription	Thymus	Thymus
32	chr12:4649400-4658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:4649400-4661600	Weak transcription	Fetal Lung	lung
34	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:4649600-4651000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:4649600-4651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:4649600-4651200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:4649600-4651400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:4649600-4651400	Weak transcription	A549	lung
42	chr12:4649600-4651400	Weak transcription	HSMM	muscle
43	chr12:4649600-4651800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:4649600-4652800	Weak transcription	HMEC	breast
45	chr12:4649600-4653000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:4649600-4653000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:4649600-4653200	Weak transcription	Osteobl	bone
48	chr12:4649600-4653400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:4649600-4653400	Weak transcription	HepG2	liver
50	chr12:4649600-4657600	Weak transcription	Fetal Heart	heart

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