Variant report

Variant	rs12369278
Chromosome Location	chr12:51331300-51331301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51325095..51327824-chr12:51330132..51332828,3	K562	blood:
2	chr12:51331181..51333310-chr12:51354155..51356249,2	MCF-7	breast:
3	chr12:51325095..51328187-chr12:51330132..51332748,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1005559	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1048230	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506298	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506299	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169626	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169633	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169636	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169637	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169639	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169641	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169642	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169644	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169646	0.85[ASN][1000 genomes]
rs11169647	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169648	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169649	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169652	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169654	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169655	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169661	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169667	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169669	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11169670	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169671	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169672	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11519977	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366476	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366756	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12369639	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369658	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371463	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12372173	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809563	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810659	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811777	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812727	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813728	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817386	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12818033	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821444	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824840	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824958	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827861	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828536	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830048	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12830073	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12830422	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12831269	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12831597	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs15897	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125137	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs224565	0.87[ASN][1000 genomes]
rs224589	0.85[ASN][1000 genomes]
rs224591	0.85[ASN][1000 genomes]
rs2285228	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285230	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301529	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2516742	0.83[ASN][1000 genomes]
rs2630364	0.86[ASN][1000 genomes]
rs319932	0.87[ASN][1000 genomes]
rs34514224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35037088	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262273	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35379220	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656976	0.83[ASN][1000 genomes]
rs35999440	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407135	0.85[ASN][1000 genomes]
rs422637	0.83[ASN][1000 genomes]
rs422982	0.85[ASN][1000 genomes]
rs440595	0.81[ASN][1000 genomes]
rs4444142	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471501	0.82[ASN][1000 genomes]
rs454520	0.85[ASN][1000 genomes]
rs67025973	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133203	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67259551	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706801	0.90[ASN][1000 genomes]
rs706802	0.90[ASN][1000 genomes]
rs7133997	1.00[YRI][hapmap]
rs71445768	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71445772	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305638	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306293	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306662	1.00[YRI][hapmap]
rs73090655	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959075	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959082	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965566	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972406	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975147	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829022	0.90[ASN][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
3	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
5	chr12:51327200-51331400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr12:51327400-51331400	Weak transcription	Colonic Mucosa	Colon
7	chr12:51327400-51331400	Enhancers	Placenta	Placenta
8	chr12:51327600-51331400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:51328400-51332600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:51329200-51331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:51329200-51331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51329200-51336200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:51329200-51341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:51329400-51331400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:51329600-51331400	Weak transcription	Ovary	ovary
17	chr12:51329600-51331600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:51329600-51333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
20	chr12:51330200-51331600	Enhancers	K562	blood
21	chr12:51330400-51331400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:51330400-51331600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:51330400-51332600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr12:51330600-51331400	Enhancers	Colon Smooth Muscle	Colon
25	chr12:51330600-51332800	Weak transcription	Liver	Liver
26	chr12:51330800-51331800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr12:51330800-51331800	Strong transcription	Brain Hippocampus Middle	brain
28	chr12:51330800-51332000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr12:51330800-51332200	ZNF genes & repeats	Fetal Thymus	thymus
30	chr12:51330800-51332400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:51330800-51332400	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr12:51330800-51332400	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr12:51330800-51332400	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr12:51330800-51332600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr12:51330800-51332600	ZNF genes & repeats	Fetal Brain Female	brain
36	chr12:51331000-51331400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:51331000-51331400	ZNF genes & repeats	Esophagus	oesophagus
38	chr12:51331000-51331400	Genic enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:51331000-51331600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51331000-51331600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:51331000-51331600	ZNF genes & repeats	Pancreas	Pancrea
42	chr12:51331000-51331600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr12:51331000-51331600	Enhancers	Hela-S3	cervix
44	chr12:51331000-51332000	ZNF genes & repeats	Gastric	stomach
45	chr12:51331000-51332400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:51331000-51332400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:51331000-51332400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:51331000-51332400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:51331000-51332400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:51331000-51332400	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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