Variant report

Variant	rs11057244
Chromosome Location	chr12:123773263-123773264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123755184..123757288-chr12:123772860..123774485,3	K562	blood:

Variant related genes	Relation type
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10846468	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846469	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846471	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846484	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10846513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848429	1.00[JPT][hapmap]
rs11057180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11057241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057246	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057289	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11061611	1.00[JPT][hapmap]
rs11061616	1.00[JPT][hapmap]
rs12312675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12318389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12318594	1.00[JPT][hapmap]
rs28573826	1.00[CEU][hapmap]
rs61953417	1.00[EUR][1000 genomes]
rs61953418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953483	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61953484	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61955083	0.93[AMR][1000 genomes]
rs61955085	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:123757200-123774000	Weak transcription	K562	blood
3	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
4	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
6	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:123758800-123773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:123762800-123773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:123763000-123773800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:123763200-123774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:123763200-123775800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:123763400-123773400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:123763400-123774000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:123763400-123774600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:123763400-123774600	Weak transcription	HUVEC	blood vessel
17	chr12:123763600-123773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:123763600-123773400	Weak transcription	GM12878-XiMat	blood
19	chr12:123763600-123774600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:123763800-123773800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:123766200-123780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:123767000-123773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:123769600-123773800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:123769600-123775000	Weak transcription	HepG2	liver
25	chr12:123769800-123778800	Weak transcription	Fetal Kidney	kidney
26	chr12:123770200-123776800	Weak transcription	Spleen	Spleen
27	chr12:123770200-123778400	Weak transcription	Fetal Lung	lung
28	chr12:123771000-123773400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:123771200-123773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123771200-123777800	Weak transcription	Psoas Muscle	Psoas
31	chr12:123771400-123773400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:123771400-123773400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:123771400-123773800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:123771400-123774000	Weak transcription	Dnd41	blood
35	chr12:123771400-123775000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:123771400-123777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:123771400-123777600	Weak transcription	Right Ventricle	heart
38	chr12:123771400-123777800	Weak transcription	Brain Angular Gyrus	brain
39	chr12:123771600-123773400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123771600-123773400	Weak transcription	Left Ventricle	heart
41	chr12:123771600-123773400	Weak transcription	Pancreas	Pancrea
42	chr12:123771600-123773400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:123771600-123773400	Weak transcription	Thymus	Thymus
44	chr12:123771600-123773600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:123771600-123773600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:123771600-123773600	Weak transcription	Placenta	Placenta
47	chr12:123771600-123774000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:123771600-123774000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:123771600-123774600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:123771600-123776800	Weak transcription	Brain Cingulate Gyrus	brain

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