Variant report

Variant	rs11065240
Chromosome Location	chr12:121179942-121179943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121170705..121172790-chr12:121179544..121181594,2	MCF-7	breast:
2	chr12:121179321..121181352-chr12:121340474..121342443,2	MCF-7	breast:
3	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10431372	0.82[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10431383	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774564	0.80[CHB][hapmap]
rs10774565	0.88[CHB][hapmap]
rs10774570	0.83[JPT][hapmap]
rs10849774	0.80[CHB][hapmap]
rs10849780	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849781	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849785	0.82[JPT][hapmap]
rs10849789	0.82[JPT][hapmap]
rs10849808	0.82[JPT][hapmap]
rs10849814	0.82[JPT][hapmap]
rs11065184	0.82[CHB][hapmap]
rs11065188	0.82[CHB][hapmap]
rs11065189	0.80[CHB][hapmap]
rs11065194	0.87[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065195	0.86[EUR][1000 genomes]
rs11065196	0.86[EUR][1000 genomes]
rs11065197	0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs11065198	0.86[EUR][1000 genomes]
rs11065199	0.86[EUR][1000 genomes]
rs11065204	0.86[EUR][1000 genomes]
rs11065205	0.86[EUR][1000 genomes]
rs11065214	0.82[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065215	0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065217	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065220	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065229	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065234	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065235	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065241	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065242	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065243	1.00[ASN][1000 genomes]
rs11065244	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065245	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12228187	0.82[CHB][hapmap]
rs12229164	0.86[EUR][1000 genomes]
rs12229181	0.86[EUR][1000 genomes]
rs12231101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231499	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310160	0.88[CHB][hapmap]
rs17848090	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071266	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2229534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239687	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239757	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2239759	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3213569	0.82[JPT][hapmap]
rs3751166	0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809311	0.80[CHB][hapmap]
rs7302002	0.86[EUR][1000 genomes]
rs7308648	1.00[YRI][hapmap]
rs7973568	0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
3	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:121177200-121180000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:121177400-121180800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:121177400-121181400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:121177600-121180200	Weak transcription	Small Intestine	intestine
9	chr12:121177600-121180400	Enhancers	Liver	Liver
10	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
13	chr12:121177800-121180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:121177800-121181400	Weak transcription	Dnd41	blood
15	chr12:121177800-121182400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:121177800-121197800	Weak transcription	Gastric	stomach
21	chr12:121178000-121180000	Weak transcription	Lung	lung
22	chr12:121178000-121181200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:121178000-121183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
28	chr12:121178600-121180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:121178600-121182800	Weak transcription	Esophagus	oesophagus
30	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
31	chr12:121179000-121183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:121179200-121180000	Enhancers	Fetal Muscle Trunk	muscle
33	chr12:121179200-121180200	Enhancers	Fetal Muscle Leg	muscle
34	chr12:121179200-121181000	Weak transcription	Fetal Stomach	stomach
35	chr12:121179400-121180200	Enhancers	Ovary	ovary
36	chr12:121179400-121180200	Enhancers	Pancreas	Pancrea
37	chr12:121179600-121180000	Enhancers	Psoas Muscle	Psoas
38	chr12:121179600-121180200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:121179600-121180200	Enhancers	Fetal Intestine Large	intestine
40	chr12:121179600-121180200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:121179600-121180200	Flanking Active TSS	HepG2	liver
42	chr12:121179600-121182800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:121179800-121180000	Genic enhancers	Fetal Intestine Small	intestine
44	chr12:121179800-121180000	Weak transcription	Placenta	Placenta
45	chr12:121179800-121180200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr12:121179800-121180200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:121179800-121197400	Weak transcription	Spleen	Spleen

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