Variant report

Variant	rs7304578
Chromosome Location	chr12:51669733-51669734
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	chr12:51476877..51478792-chr12:51668857..51671701,2	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10747609	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10783426	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783427	0.83[AMR][1000 genomes]
rs10783428	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10876157	0.81[EUR][1000 genomes]
rs10876159	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1877260	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1877261	0.83[AMR][1000 genomes]
rs1975004	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2271821	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359449	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3951438	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4761814	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4761815	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4761966	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4761969	0.86[AMR][1000 genomes]
rs4761981	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4761995	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4991750	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6580820	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7133495	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7296747	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311434	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9325148	0.96[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51683200	Weak transcription	Spleen	Spleen
2	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:51664800-51685800	Weak transcription	Esophagus	oesophagus
4	chr12:51665000-51673800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:51665000-51674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:51665200-51670200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:51665200-51673200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:51665200-51674200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:51665200-51674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:51665200-51674800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:51665400-51673800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:51665400-51674200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:51665400-51674400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:51665400-51674400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:51665400-51674400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:51665400-51674600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:51665400-51674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:51665400-51675000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:51665400-51679800	Weak transcription	Liver	Liver
20	chr12:51665600-51670000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:51665600-51674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:51665600-51674400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:51665600-51678200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:51666200-51670000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:51666400-51674200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:51667400-51674000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:51667400-51674000	Weak transcription	Fetal Thymus	thymus
28	chr12:51667800-51674400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:51668800-51674400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:51669200-51674600	Weak transcription	A549	lung
31	chr12:51669400-51671000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:51669400-51678200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:51669600-51673800	Weak transcription	Thymus	Thymus
34	chr12:51669600-51674600	Weak transcription	Rectal Mucosa Donor 31	rectum

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