Variant report

Variant	rs7134749
Chromosome Location	chr12:50237637-50237638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:50236083-50238179	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50217971..50224800-chr12:50231213..50239207,27	MCF-7	breast:
2	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
3	chr12:50235441..50237993-chr12:50478392..50480338,2	K562	blood:
4	chr12:50034792..50037602-chr12:50234677..50237742,4	MCF-7	breast:
5	chr12:50133628..50137162-chr12:50236178..50238766,3	MCF-7	breast:
6	chr12:50134026..50138215-chr12:50236682..50241219,8	K562	blood:
7	chr12:50034825..50036766-chr12:50235780..50238026,2	MCF-7	breast:
8	chr12:49960658..49962716-chr12:50235265..50237902,2	K562	blood:
9	chr12:50235029..50238212-chr12:50416884..50420841,4	K562	blood:
10	chr12:50220424..50223939-chr12:50233012..50238065,9	K562	blood:
11	chr12:49658135..49661109-chr12:50235815..50238160,2	MCF-7	breast:
12	chr1:110601506..110604444-chr12:50236151..50238009,2	MCF-7	breast:

No data

Variant related genes	Relation type
BCDIN3D	TF binding region
ENSG00000161800	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000258634	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11169153	0.82[AMR][1000 genomes]
rs11169154	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11169160	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11169172	0.83[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1470907	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3741554	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3741555	1.00[CEU][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3813526	1.00[CEU][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4898531	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4898533	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4898538	1.00[YRI][hapmap]
rs59429669	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs897059	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50237000-50238000	Flanking Active TSS	Dnd41	blood
2	chr12:50237200-50237800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:50237200-50237800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:50237200-50237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:50237200-50237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:50237200-50237800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:50237400-50237800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:50237400-50237800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:50237400-50237800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:50237400-50237800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50237400-50237800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:50237400-50237800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:50237400-50237800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:50237400-50237800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:50237400-50237800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:50237400-50237800	Enhancers	Brain Germinal Matrix	brain
17	chr12:50237400-50237800	Enhancers	Fetal Intestine Small	intestine
18	chr12:50237400-50237800	Enhancers	NHLF	lung
19	chr12:50237400-50237800	Enhancers	Osteobl	bone
20	chr12:50237400-50238000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:50237400-50238000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:50237400-50238000	Enhancers	HMEC	breast
23	chr12:50237600-50237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:50237600-50237800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:50237600-50237800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:50237600-50237800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr12:50237600-50237800	Enhancers	Primary T cells from cord blood	blood
28	chr12:50237600-50237800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:50237600-50237800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:50237600-50237800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:50237600-50237800	Enhancers	A549	lung
32	chr12:50237600-50237800	Active TSS	GM12878-XiMat	blood
33	chr12:50237600-50237800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:50237600-50237800	Enhancers	NHEK	skin
35	chr12:50237600-50238000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:50237600-50238000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:50237600-50238000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:50237600-50238000	Enhancers	K562	blood
39	chr12:50237600-50238800	Weak transcription	Fetal Intestine Large	intestine
40	chr12:50237600-50238800	Weak transcription	Thymus	Thymus
41	chr12:50237600-50238800	Enhancers	Hela-S3	cervix
42	chr12:50237600-50240600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:50237600-50240600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:50237600-50240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:50237600-50240800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:50237600-50240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:50237600-50241000	Weak transcription	Fetal Thymus	thymus
48	chr12:50237600-50261200	Weak transcription	Right Atrium	heart

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