Variant report

Variant	rs12827861
Chromosome Location	chr12:51401408-51401409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:
2	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
3	chr12:51400476..51402543-chr12:51413177..51415627,2	K562	blood:

Variant related genes	Relation type
ENSG00000272028	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1005559	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048230	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10506299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169626	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169633	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169636	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169637	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169639	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169642	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169644	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169646	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11169647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169648	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169654	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169661	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169667	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169669	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169670	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169671	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169672	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169682	0.84[EUR][1000 genomes]
rs11519977	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11831810	0.83[EUR][1000 genomes]
rs11831946	0.83[EUR][1000 genomes]
rs11833022	0.83[EUR][1000 genomes]
rs12366476	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12366756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12369278	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12369639	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12369658	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12369666	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12370820	0.84[EUR][1000 genomes]
rs12371463	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12372173	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12809563	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12810174	0.83[EUR][1000 genomes]
rs12810596	0.83[EUR][1000 genomes]
rs12810659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12811658	0.83[EUR][1000 genomes]
rs12811684	0.83[EUR][1000 genomes]
rs12811777	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12812650	0.83[EUR][1000 genomes]
rs12812727	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12813309	0.83[EUR][1000 genomes]
rs12813368	0.83[EUR][1000 genomes]
rs12813728	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12817386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12818033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12819296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12820966	0.83[EUR][1000 genomes]
rs12821444	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12822509	0.83[EUR][1000 genomes]
rs12824225	0.83[EUR][1000 genomes]
rs12824840	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12824958	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828349	0.83[EUR][1000 genomes]
rs12828536	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830048	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12830073	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830422	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12831597	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs15897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17125137	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs224565	0.82[ASN][1000 genomes]
rs224589	0.90[ASN][1000 genomes]
rs224591	0.90[ASN][1000 genomes]
rs2285228	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285230	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301529	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516742	0.89[ASN][1000 genomes]
rs2630364	0.81[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34735738	0.83[EUR][1000 genomes]
rs35037088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35262273	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35379220	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35656976	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35999440	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs407135	0.90[ASN][1000 genomes]
rs422637	0.89[ASN][1000 genomes]
rs422982	0.90[ASN][1000 genomes]
rs440595	0.86[ASN][1000 genomes]
rs4444142	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4471501	0.87[ASN][1000 genomes]
rs454520	0.90[ASN][1000 genomes]
rs4768964	0.82[EUR][1000 genomes]
rs4768967	0.82[EUR][1000 genomes]
rs6580784	0.83[EUR][1000 genomes]
rs67025973	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67133203	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67259551	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67260912	0.83[EUR][1000 genomes]
rs706801	0.85[ASN][1000 genomes]
rs706802	0.85[ASN][1000 genomes]
rs7135059	0.84[EUR][1000 genomes]
rs71445768	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71445772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7305638	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7306293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73090655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7488909	0.81[ASN][1000 genomes]
rs7954140	0.82[EUR][1000 genomes]
rs7959075	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7959082	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964570	0.83[EUR][1000 genomes]
rs7965566	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7972406	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976777	0.83[EUR][1000 genomes]
rs7978723	0.82[EUR][1000 genomes]
rs7980874	0.84[EUR][1000 genomes]
rs829022	0.85[ASN][1000 genomes]
rs970098	0.83[EUR][1000 genomes]
rs970099	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
5	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
6	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51381800-51402400	Strong transcription	Liver	Liver
12	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
13	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
18	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
19	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
20	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
21	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
22	chr12:51390800-51402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:51391000-51402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:51392400-51401800	Strong transcription	Thymus	Thymus
25	chr12:51392600-51402400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:51393000-51402000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:51393400-51402000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:51394400-51402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:51394400-51403600	Weak transcription	Ovary	ovary
30	chr12:51395200-51402400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:51395400-51402600	Weak transcription	Fetal Brain Male	brain
32	chr12:51396000-51402200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:51396000-51402400	Strong transcription	Left Ventricle	heart
34	chr12:51396800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:51396800-51402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:51397400-51403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:51397600-51401800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:51397600-51402000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:51397600-51402200	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:51397600-51402400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:51397800-51402200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:51397800-51402400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:51398000-51402200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:51398000-51402400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:51398000-51402400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:51398000-51402400	Strong transcription	Dnd41	blood
47	chr12:51398200-51401800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:51398200-51402000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:51398200-51402000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:51398200-51402400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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