Variant report

Variant	rs57514011
Chromosome Location	chr12:45625089-45625090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45618137..45620002-chr12:45624221..45626315,2	MCF-7	breast:
2	chr12:45607453..45614844-chr12:45624389..45629866,11	K562	blood:
3	chr12:45608270..45616533-chr12:45619913..45631094,20	MCF-7	breast:
4	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:
5	chr12:45608440..45613952-chr12:45624018..45631221,10	MCF-7	breast:
6	chr12:45624306..45626903-chr12:46122276..46124335,2	MCF-7	breast:
7	chr12:45608098..45612348-chr12:45617340..45626325,10	K562	blood:
8	chr12:45571181..45572912-chr12:45622978..45625971,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000189079	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs17095452	0.91[AFR][1000 genomes]
rs55994528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162044	1.00[AMR][1000 genomes]
rs56409009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56672176	0.90[AFR][1000 genomes]
rs56842412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57283482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57516582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57752448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58615264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59111701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61679354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080682	0.90[AFR][1000 genomes]
rs74080804	1.00[AMR][1000 genomes]
rs74080853	0.90[AFR][1000 genomes]
rs74080929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083403	0.86[AFR][1000 genomes]
rs74083404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083405	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
5	chr12:45613800-45628400	Weak transcription	Lung	lung
6	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
12	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart
13	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:45614400-45628800	Weak transcription	Spleen	Spleen
16	chr12:45614400-45629000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:45614400-45639600	Weak transcription	Dnd41	blood
18	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:45614800-45627400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:45614800-45629000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:45615000-45625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:45615000-45628400	Weak transcription	Esophagus	oesophagus
23	chr12:45615200-45625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:45615200-45625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:45615200-45625200	Weak transcription	Fetal Lung	lung
26	chr12:45615600-45625600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:45617000-45628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:45617800-45625200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:45618000-45626400	Weak transcription	Placenta	Placenta
30	chr12:45618000-45628000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:45618200-45625400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:45618200-45627400	Weak transcription	Liver	Liver
33	chr12:45618800-45625200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:45619000-45625200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:45619000-45626600	Weak transcription	Ovary	ovary
36	chr12:45619600-45625600	Weak transcription	Fetal Intestine Small	intestine
37	chr12:45620000-45625200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:45620200-45625200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:45620200-45625200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:45620200-45626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:45620200-45628200	Weak transcription	Fetal Kidney	kidney
42	chr12:45621200-45626800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:45621400-45625200	Strong transcription	Fetal Thymus	thymus
44	chr12:45621600-45625600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:45621600-45626400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:45621800-45625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:45621800-45625400	Weak transcription	Brain Anterior Caudate	brain
48	chr12:45622000-45625200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:45622000-45625400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:45622000-45626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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