Variant report

Variant	rs10516
Chromosome Location	chr12:51745834-51745835
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51159003..51159746-chr12:51745461..51746336,2	K562	blood:
2	chr12:51662264..51665283-chr12:51745297..51747465,3	K562	blood:
3	chr12:51734941..51739498-chr12:51744423..51748065,5	K562	blood:
4	chr12:51663386..51664046-chr12:51745481..51746352,2	K562	blood:
5	chr12:51744372..51748268-chr12:51756905..51759729,4	K562	blood:
6	chr12:51714696..51717509-chr12:51745471..51747033,2	MCF-7	breast:
7	chr12:51441280..51444117-chr12:51744506..51748458,5	MCF-7	breast:
8	chr12:51441102..51443608-chr12:51745304..51746823,2	K562	blood:
9	chr12:51631532..51634032-chr12:51744589..51747276,3	MCF-7	breast:
10	chr12:51745453..51745976-chr5:73263142..73263663,3	MCF-7	breast:
11	chr12:51745450..51746290-chr12:51814696..51815264,2	MCF-7	breast:
12	chr12:50468698..50469628-chr12:51745397..51745900,2	K562	blood:
13	chr12:51737875..51739498-chr12:51745613..51748065,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000183283	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10876162	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs11169795	0.91[CEU][hapmap]
rs11169805	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs11616158	0.95[EUR][1000 genomes]
rs12310910	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12582273	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12829179	0.93[EUR][1000 genomes]
rs12831721	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs17860300	0.94[EUR][1000 genomes]
rs17860301	0.94[EUR][1000 genomes]
rs17860343	0.95[EUR][1000 genomes]
rs3858624	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3858627	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133606	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138439	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7299306	0.97[EUR][1000 genomes]
rs7299453	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306746	0.85[EUR][1000 genomes]
rs7959814	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7964134	0.97[EUR][1000 genomes]
rs9651999	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3325259	chr12:51744741-51746212	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv3432551	chr12:51745783-51746103	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
2	chr12:51735400-51746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:51735400-51747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:51735400-51747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:51735400-51747400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:51735400-51747800	Weak transcription	NHLF	lung
8	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:51735600-51746800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:51735800-51747400	Weak transcription	Dnd41	blood
16	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:51739400-51748400	Weak transcription	Gastric	stomach
18	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:51739600-51750600	Weak transcription	GM12878-XiMat	blood
20	chr12:51740000-51747400	Weak transcription	NHEK	skin
21	chr12:51740200-51746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:51740400-51747400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:51740400-51747400	Weak transcription	Thymus	Thymus
24	chr12:51740400-51747800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:51740600-51747600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:51740600-51751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:51740800-51753200	Weak transcription	NHDF-Ad	bronchial
28	chr12:51741000-51747800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:51742400-51746000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:51742400-51749600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:51743200-51750600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:51743400-51746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:51743400-51746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:51743400-51751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:51744000-51746400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:51744000-51748000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:51744800-51746400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:51745200-51746200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:51745200-51746200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:51745400-51746200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr12:51745400-51746200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:51745400-51746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:51745400-51746200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:51745400-51746200	Enhancers	Brain Angular Gyrus	brain
46	chr12:51745400-51746200	Enhancers	Brain Hippocampus Middle	brain
47	chr12:51745400-51746200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:51745400-51746200	Enhancers	Brain Substantia Nigra	brain
49	chr12:51745400-51746200	Enhancers	Placenta	Placenta
50	chr12:51745400-51747400	Enhancers	Pancreas	Pancrea

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