Variant report

Variant	rs60044798
Chromosome Location	chr12:51747465-51747466
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51742749..51744561-chr12:51746239..51748035,2	K562	blood:
2	chr12:51740737..51742695-chr12:51746818..51748800,2	MCF-7	breast:
3	chr12:51720048..51722146-chr12:51747016..51749714,2	K562	blood:
4	chr12:51662264..51665283-chr12:51745297..51747465,3	K562	blood:
5	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
6	chr12:51744372..51748268-chr12:51756905..51759729,4	K562	blood:
7	chr12:51441280..51444117-chr12:51744506..51748458,5	MCF-7	breast:
8	chr12:51747253..51748969-chr12:51752047..51753827,2	K562	blood:
9	chr12:51737875..51739498-chr12:51745613..51748065,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10783438	1.00[EUR][1000 genomes]
rs12578858	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12579126	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12579841	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12580621	1.00[EUR][1000 genomes]
rs12581208	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12582216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860267	1.00[EUR][1000 genomes]
rs17860283	1.00[EUR][1000 genomes]
rs17860320	1.00[EUR][1000 genomes]
rs17860337	1.00[EUR][1000 genomes]
rs2067764	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3741700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889974	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58448629	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61612083	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73309782	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309783	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73309787	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309789	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309790	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73309797	0.82[ASN][1000 genomes]
rs73311613	1.00[EUR][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	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
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
2	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:51735400-51747800	Weak transcription	NHLF	lung
4	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:51739400-51748400	Weak transcription	Gastric	stomach
12	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:51739600-51750600	Weak transcription	GM12878-XiMat	blood
14	chr12:51740400-51747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:51740600-51747600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:51740600-51751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
18	chr12:51741000-51747800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:51742400-51749600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:51743200-51750600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:51743400-51751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:51744000-51748000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:51745600-51748400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:51745600-51752400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:51745800-51753200	Weak transcription	Stomach Mucosa	stomach
27	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:51746000-51750600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:51746000-51752800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:51746000-51755600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:51746000-51756400	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr12:51746200-51747800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:51746200-51747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:51746200-51748600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:51746200-51748600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:51746200-51750400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:51746200-51751000	Weak transcription	Placenta	Placenta
38	chr12:51746200-51751200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:51746200-51751400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:51746200-51752400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:51746200-51752600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:51746200-51753400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:51746200-51754800	Weak transcription	K562	blood
44	chr12:51746200-51757400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
48	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:51746400-51747600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:51746600-51755600	Strong transcription	Fetal Intestine Small	intestine

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