Variant report

Variant	rs73272006
Chromosome Location	chr12:42768171-42768172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42766175..42768214-chr12:42773377..42776076,2	MCF-7	breast:
2	chr12:42759479..42762311-chr12:42766353..42768540,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs1234113	0.83[AMR][1000 genomes]
rs1683193	0.83[AMR][1000 genomes]
rs2639128	0.83[AMR][1000 genomes]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs57582332	0.83[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341977	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712113	0.83[AMR][1000 genomes]
rs712117	0.83[AMR][1000 genomes]
rs712121	0.83[AMR][1000 genomes]
rs712128	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281848	0.83[AMR][1000 genomes]
rs73281857	0.83[AMR][1000 genomes]
rs73281868	0.83[AMR][1000 genomes]
rs73281890	0.83[AMR][1000 genomes]
rs73281897	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078990	1.00[AMR][1000 genomes]
rs7957401	0.83[AMR][1000 genomes]
rs7960285	0.83[AMR][1000 genomes]
rs7964994	0.83[AMR][1000 genomes]
rs850828	0.83[AMR][1000 genomes]
rs9669751	0.83[AMR][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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
4	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
5	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:42721800-42797000	Weak transcription	NHLF	lung
9	chr12:42721800-42803600	Weak transcription	Gastric	stomach
10	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
14	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:42730800-42769600	Weak transcription	NH-A	brain
16	chr12:42731000-42768800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:42731400-42769600	Weak transcription	Fetal Lung	lung
18	chr12:42731800-42770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
20	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:42732400-42769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:42746000-42778400	Weak transcription	Fetal Brain Male	brain
26	chr12:42746600-42769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:42747400-42768800	Weak transcription	NHDF-Ad	bronchial
28	chr12:42747600-42769000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:42750400-42768600	Weak transcription	Fetal Intestine Large	intestine
30	chr12:42750400-42768600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:42750400-42768800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:42750400-42769000	Weak transcription	Ovary	ovary
33	chr12:42750400-42769000	Weak transcription	Osteobl	bone
34	chr12:42750400-42769200	Weak transcription	Left Ventricle	heart
35	chr12:42750400-42769400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:42750400-42769600	Weak transcription	HSMMtube	muscle
37	chr12:42750400-42770200	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:42750400-42770200	Weak transcription	Fetal Stomach	stomach
39	chr12:42750400-42770200	Weak transcription	Thymus	Thymus
40	chr12:42750600-42769400	Weak transcription	Placenta	Placenta
41	chr12:42750800-42769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:42750800-42769800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:42751400-42768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:42751400-42768800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:42751800-42768600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:42752000-42768600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:42752000-42769400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:42753000-42768800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:42753600-42769000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:42753600-42776200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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