Variant report

Variant	rs11169735
Chromosome Location	chr12:51566350-51566351
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr12:50793053..50795901-chr12:51566225..51568182,2	K562	blood:
4	chr12:51554796..51557300-chr12:51565911..51568570,2	K562	blood:
5	chr12:51564447..51569582-chr12:51630930..51635335,8	K562	blood:
6	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
7	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
8	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
9	chr12:51440439..51443022-chr12:51565659..51567306,3	K562	blood:
10	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
11	chr12:51564257..51569582-chr12:51630930..51636873,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050438	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000183283	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10876133	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10876135	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10876150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169696	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs11169706	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11169708	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11169720	0.82[ASN][1000 genomes]
rs11169721	0.80[ASN][1000 genomes]
rs11169722	0.82[ASN][1000 genomes]
rs11169733	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169734	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	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169747	0.91[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169751	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12227032	0.82[ASN][1000 genomes]
rs12227973	0.81[ASN][1000 genomes]
rs12230388	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12424460	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs1493382	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17125365	1.00[JPT][hapmap]
rs17125371	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs2359189	0.89[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap]
rs2436636	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2452794	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2452795	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2452796	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640512	0.81[ASN][1000 genomes]
rs2640515	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640518	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2640520	0.82[ASN][1000 genomes]
rs2640522	0.82[ASN][1000 genomes]
rs2640525	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2640526	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2640528	0.81[ASN][1000 genomes]
rs2730653	0.82[ASN][1000 genomes]
rs2730657	0.80[ASN][1000 genomes]
rs2730659	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28392616	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2934092	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2956427	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768953	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4768957	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs4768971	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768974	0.82[ASN][1000 genomes]
rs56729853	0.81[ASN][1000 genomes]
rs60203224	0.83[ASN][1000 genomes]
rs6580802	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136657	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305956	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7399089	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7399090	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7399214	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7959264	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7964762	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7974242	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7980006	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8490	0.89[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11169735	KRT76	cis	parietal	SCAN
rs11169735	PFKM	cis	parietal	SCAN
rs11169735	SMAGP	cis	parietal	SCAN
rs11169735	AQP2	cis	cerebellum	SCAN
rs11169735	IGFBP6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51564800-51567200	Active TSS	HSMMtube	muscle
2	chr12:51564800-51567400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:51564800-51567400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:51564800-51567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:51564800-51567400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:51564800-51567400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51564800-51567400	Active TSS	HMEC	breast
8	chr12:51565000-51567000	Active TSS	NH-A	brain
9	chr12:51565000-51567400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:51565000-51567400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:51565000-51567400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:51565000-51567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:51565000-51567400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:51565000-51567400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:51565000-51567400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:51565000-51567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:51565000-51567400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:51565000-51567400	Active TSS	NHLF	lung
19	chr12:51565000-51567800	Active TSS	K562	blood
20	chr12:51565200-51566600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:51565200-51567200	Active TSS	NHDF-Ad	bronchial
22	chr12:51565200-51567400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:51565200-51567400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:51565200-51567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:51565200-51567400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:51565200-51567400	Active TSS	GM12878-XiMat	blood
27	chr12:51565200-51567400	Active TSS	HSMM	muscle
28	chr12:51565200-51568600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:51565400-51566400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr12:51565400-51566400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:51565400-51566400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:51565400-51566400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr12:51565400-51566400	Active TSS	Right Atrium	heart
34	chr12:51565400-51566600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:51565400-51566600	Flanking Active TSS	Liver	Liver
36	chr12:51565400-51566800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:51565400-51567000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:51565400-51567200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:51565400-51567200	Active TSS	Fetal Intestine Large	intestine
40	chr12:51565400-51567200	Active TSS	Fetal Intestine Small	intestine
41	chr12:51565400-51567400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:51565400-51567400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr12:51565400-51567400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:51565400-51567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:51565400-51567400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:51565400-51567400	Active TSS	Ovary	ovary
47	chr12:51565400-51567400	Active TSS	Psoas Muscle	Psoas
48	chr12:51565400-51567400	Active TSS	Stomach Mucosa	stomach
49	chr12:51565400-51567600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:51565400-51567600	Active TSS	Fetal Brain Female	brain

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