Variant report

Variant	rs11169734
Chromosome Location	chr12:51565892-51565893
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	chr12:51564751..51566966-chr12:51783543..51785825,2	K562	blood:
2	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
3	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
4	chr12:51557800..51560128-chr12:51563372..51565944,2	K562	blood:
5	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
6	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
7	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
8	chr12:51440439..51443022-chr12:51565659..51567306,3	K562	blood:
9	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
10	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10876133	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs10876135	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10876142	0.80[ASN][1000 genomes]
rs10876150	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169696	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11169706	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11169708	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11169720	0.83[ASN][1000 genomes]
rs11169721	0.81[ASN][1000 genomes]
rs11169722	0.83[ASN][1000 genomes]
rs11169733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169735	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169737	0.81[ASN][1000 genomes]
rs11169738	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169740	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169741	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169747	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169751	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12227032	0.83[ASN][1000 genomes]
rs12227973	0.82[ASN][1000 genomes]
rs12230388	0.84[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs12424460	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1493382	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs17125365	0.83[JPT][hapmap]
rs17125371	0.82[CHB][hapmap]
rs2359189	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2436636	0.84[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2452794	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2452795	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2452796	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640512	0.82[ASN][1000 genomes]
rs2640515	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640518	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2640520	0.83[ASN][1000 genomes]
rs2640522	0.83[ASN][1000 genomes]
rs2640525	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2640526	1.00[JPT][hapmap]
rs2640528	0.82[ASN][1000 genomes]
rs2730653	0.83[ASN][1000 genomes]
rs2730657	0.81[ASN][1000 genomes]
rs2730659	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs28392616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2934092	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2956427	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768953	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs4768957	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4768971	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768974	0.83[ASN][1000 genomes]
rs56729853	0.82[ASN][1000 genomes]
rs60203224	0.84[ASN][1000 genomes]
rs6580802	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136657	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305956	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7309374	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7399089	0.92[EUR][1000 genomes]
rs7399090	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7399214	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7959264	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964762	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974242	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980006	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8490	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51564200-51566200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:51564600-51566000	Flanking Active TSS	Dnd41	blood
3	chr12:51564800-51566000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:51564800-51566200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:51564800-51567200	Active TSS	HSMMtube	muscle
6	chr12:51564800-51567400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:51564800-51567400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:51564800-51567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:51564800-51567400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:51564800-51567400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51564800-51567400	Active TSS	HMEC	breast
12	chr12:51565000-51566000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr12:51565000-51566000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:51565000-51566200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:51565000-51567000	Active TSS	NH-A	brain
16	chr12:51565000-51567400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr12:51565000-51567400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:51565000-51567400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:51565000-51567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:51565000-51567400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:51565000-51567400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:51565000-51567400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:51565000-51567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:51565000-51567400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:51565000-51567400	Active TSS	NHLF	lung
26	chr12:51565000-51567800	Active TSS	K562	blood
27	chr12:51565200-51566000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:51565200-51566000	Enhancers	Spleen	Spleen
29	chr12:51565200-51566200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:51565200-51566200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr12:51565200-51566600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr12:51565200-51567200	Active TSS	NHDF-Ad	bronchial
33	chr12:51565200-51567400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:51565200-51567400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:51565200-51567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:51565200-51567400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:51565200-51567400	Active TSS	GM12878-XiMat	blood
38	chr12:51565200-51567400	Active TSS	HSMM	muscle
39	chr12:51565200-51568600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:51565400-51566000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:51565400-51566000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:51565400-51566000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr12:51565400-51566000	Flanking Active TSS	Right Ventricle	heart
44	chr12:51565400-51566000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:51565400-51566200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr12:51565400-51566200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr12:51565400-51566200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr12:51565400-51566200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr12:51565400-51566200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:51565400-51566400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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