Variant report

Variant	rs11053902
Chromosome Location	chr12:10845218-10845219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10843544..10845566-chr12:10870998..10873055,2	K562	blood:
2	chr12:10844277..10845825-chr12:10874904..10876975,2	K562	blood:

Variant related genes	Relation type
ENSG00000060138	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10845205	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845206	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[AMR][1000 genomes]
rs10845207	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053904	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053909	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11053911	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11053914	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11053917	0.91[ASN][1000 genomes]
rs1108542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11830560	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11830873	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11838144	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12231922	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423741	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12425492	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581675	0.84[ASN][1000 genomes]
rs2083958	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4445727	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136530	0.83[ASN][1000 genomes]
rs7138223	0.83[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73044637	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73044645	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310690	0.82[CHB][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs7963875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9668997	0.91[ASN][1000 genomes]

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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10834600-10853800	Weak transcription	Pancreas	Pancrea
2	chr12:10834800-10848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:10836800-10851200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:10839800-10849800	Weak transcription	A549	lung
5	chr12:10840000-10848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:10840600-10848000	Weak transcription	Psoas Muscle	Psoas
7	chr12:10840600-10848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:10840800-10847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:10840800-10848000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:10840800-10848000	Weak transcription	Left Ventricle	heart
11	chr12:10841400-10847400	Weak transcription	HSMM	muscle
12	chr12:10841800-10846400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:10842000-10848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:10842000-10848600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:10842000-10866000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:10842200-10849000	Weak transcription	HMEC	breast
17	chr12:10842200-10849200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:10842600-10848400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:10842800-10846200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:10842800-10848600	Weak transcription	NHDF-Ad	bronchial
21	chr12:10842800-10850800	Weak transcription	Aorta	Aorta
22	chr12:10843000-10847400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:10843000-10847800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:10843000-10847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:10843000-10850800	Weak transcription	Ovary	ovary
26	chr12:10843000-10853600	Weak transcription	Right Ventricle	heart
27	chr12:10843200-10849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:10843200-10849400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:10843400-10845400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:10843400-10849800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:10843600-10849800	Weak transcription	Hela-S3	cervix
32	chr12:10844000-10846400	Weak transcription	HUVEC	blood vessel
33	chr12:10844000-10848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:10844000-10850600	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:10844400-10848600	Weak transcription	Primary B cells from cord blood	blood
36	chr12:10844400-10848600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:10844600-10847200	Weak transcription	NHLF	lung
38	chr12:10844600-10848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:10844600-10849800	Weak transcription	HSMMtube	muscle
40	chr12:10844800-10848400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:10844800-10849200	Weak transcription	Liver	Liver
42	chr12:10845000-10845600	Enhancers	NHEK	skin
43	chr12:10845000-10848600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:10845000-10849800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:10845200-10850000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:10845200-10850800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:10845200-10854400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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