Variant report

Variant	rs1565721
Chromosome Location	chr12:51547731-51547732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51546648..51549311-chr12:51552488..51556215,3	K562	blood:
2	chr12:51545382..51548232-chr12:51608906..51610842,2	K562	blood:
3	chr12:51476729..51479140-chr12:51545338..51548033,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10783414	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783416	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10783417	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10783418	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10876143	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876146	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11613085	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12815367	0.82[EUR][1000 genomes]
rs1984544	0.90[ASN][1000 genomes]
rs1985457	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029686	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2436645	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436646	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2436647	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640511	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640516	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2640521	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640523	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2640527	0.90[ASN][1000 genomes]
rs2730647	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730648	0.90[ASN][1000 genomes]
rs2730650	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730654	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2956428	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3110188	0.86[ASN][1000 genomes]
rs6580799	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580800	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580801	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580803	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6580804	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7306522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7955251	0.82[EUR][1000 genomes]
rs7959378	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[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	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
2	esv2762980	chr12:51527963-51561056	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
3	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:51510200-51554400	Weak transcription	K562	blood
5	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
7	chr12:51517200-51554600	Weak transcription	HepG2	liver
8	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
11	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
12	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
13	chr12:51519200-51554600	Weak transcription	NHDF-Ad	bronchial
14	chr12:51519200-51559600	Weak transcription	Lung	lung
15	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
16	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:51519400-51550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:51521600-51565200	Weak transcription	HSMM	muscle
20	chr12:51526000-51558800	Weak transcription	GM12878-XiMat	blood
21	chr12:51526800-51556400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:51527400-51565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:51528200-51554600	Weak transcription	A549	lung
24	chr12:51530600-51564200	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:51531200-51563400	Weak transcription	Hela-S3	cervix
26	chr12:51531800-51550200	Weak transcription	NHEK	skin
27	chr12:51531800-51554400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:51532000-51565000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:51532200-51550000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:51532400-51564000	Weak transcription	Primary T cells from cord blood	blood
31	chr12:51532600-51554400	Weak transcription	Brain Angular Gyrus	brain
32	chr12:51532600-51562000	Weak transcription	Ovary	ovary
33	chr12:51532600-51562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:51532600-51564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:51532600-51565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:51532800-51563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:51533000-51554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51533000-51563200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:51533200-51555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:51533200-51561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:51533200-51561400	Weak transcription	Placenta	Placenta
42	chr12:51533200-51564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:51533400-51553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:51533400-51560200	Weak transcription	Dnd41	blood
45	chr12:51533600-51564800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:51533600-51565000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:51534600-51564200	Weak transcription	Fetal Intestine Large	intestine
48	chr12:51537000-51550200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:51538600-51554200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:51539600-51565000	Weak transcription	Primary B cells from peripheral blood	blood

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