Variant report

Variant	rs2269682
Chromosome Location	chr12:51418236-51418237
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
2	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
3	chr12:51414500..51424231-chr12:51435741..51444321,19	K562	blood:
4	chr12:51404460..51409575-chr12:51416331..51420356,8	MCF-7	breast:
5	chr12:51416514..51419391-chr12:51663583..51665592,2	MCF-7	breast:
6	chr12:50897880..50899909-chr12:51417990..51420226,2	MCF-7	breast:
7	chr12:51417478..51420284-chr12:51632474..51634014,2	MCF-7	breast:
8	chr12:51155914..51160622-chr12:51417270..51421869,9	K562	blood:
9	chr12:51416659..51422801-chr12:51440164..51444812,17	MCF-7	breast:
10	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272028	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000066084	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000123268	Chromatin interaction

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

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

rs_ID	r²[population]
rs10876122	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169625	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169629	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169634	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169640	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169643	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169651	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169653	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169658	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169662	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169675	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169681	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11169687	0.80[AMR][1000 genomes]
rs11169688	0.80[AMR][1000 genomes]
rs12227734	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982777	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2016533	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239860	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809320	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768871	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7295893	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51410800-51418400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:51412600-51418400	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:51413200-51418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:51416000-51419400	Weak transcription	Spleen	Spleen
5	chr12:51416200-51418400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:51417000-51418400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:51417000-51418400	Enhancers	Fetal Muscle Leg	muscle
8	chr12:51417200-51418400	Enhancers	Fetal Brain Male	brain
9	chr12:51417200-51418800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:51417200-51419800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:51417400-51418400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr12:51417400-51418600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:51417400-51420600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr12:51417400-51420800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:51417600-51418400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:51417600-51418400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:51417600-51418400	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr12:51417600-51418400	Flanking Active TSS	Fetal Lung	lung
19	chr12:51417600-51418400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:51417600-51418400	Flanking Active TSS	Thymus	Thymus
21	chr12:51417600-51418400	Flanking Active TSS	Osteobl	bone
22	chr12:51417600-51418800	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:51417600-51418800	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:51417600-51419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51417600-51419200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:51417600-51419600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:51417600-51419800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:51417600-51420000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:51417800-51418400	Flanking Active TSS	Fetal Thymus	thymus
30	chr12:51417800-51418400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr12:51417800-51418600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:51417800-51418600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:51417800-51419000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:51417800-51419200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:51417800-51419200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr12:51417800-51419200	Weak transcription	Lung	lung
37	chr12:51417800-51419200	Active TSS	HSMMtube	muscle
38	chr12:51417800-51419400	Weak transcription	Small Intestine	intestine
39	chr12:51417800-51419600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:51417800-51419800	Active TSS	Right Atrium	heart
41	chr12:51417800-51419800	Flanking Active TSS	HUVEC	blood vessel
42	chr12:51417800-51420200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:51417800-51420600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:51417800-51420600	Active TSS	Aorta	Aorta
45	chr12:51417800-51420800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr12:51417800-51420800	Active TSS	Brain Angular Gyrus	brain
47	chr12:51418000-51418400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:51418000-51418400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:51418000-51418400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:51418000-51418400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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