Variant report

Variant	rs11051538
Chromosome Location	chr12:31846039-31846040
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	chr12:31845442..31848211-chr12:31880575..31882362,2	K562	blood:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10843992	0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051514	0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051515	0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051516	0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051517	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs11051519	0.95[ASN][1000 genomes]
rs11051527	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051535	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11051536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051537	0.84[ASN][1000 genomes]
rs11051540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051546	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11051547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051551	1.00[CHB][hapmap]
rs12231666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4931536	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4931538	0.95[ASN][1000 genomes]
rs4931545	0.94[ASN][1000 genomes]
rs4931546	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4931547	0.93[ASN][1000 genomes]
rs59091295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61561194	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61932065	0.91[ASN][1000 genomes]
rs7308889	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7316528	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955365	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7959989	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
4	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
7	chr12:31835800-31854800	Weak transcription	K562	blood
8	chr12:31836000-31857600	Weak transcription	A549	lung
9	chr12:31836800-31850400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:31837200-31850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:31837200-31850200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:31837200-31850200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:31837200-31850400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:31837200-31850400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:31837200-31850400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
22	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:31839600-31855000	Weak transcription	Spleen	Spleen
25	chr12:31839800-31871800	Weak transcription	Gastric	stomach
26	chr12:31840200-31858200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:31840200-31859600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:31840400-31849200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:31840400-31851800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:31840600-31850400	Weak transcription	Dnd41	blood
32	chr12:31840600-31854400	Weak transcription	Placenta	Placenta
33	chr12:31840800-31850600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:31841000-31846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:31841200-31857800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:31841400-31850400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:31841400-31856000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:31841600-31847400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:31841600-31850400	Weak transcription	Liver	Liver
41	chr12:31841600-31857200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
44	chr12:31841800-31855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:31842000-31846800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:31842000-31850600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:31842000-31850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:31842200-31848800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:31843600-31850400	Weak transcription	Fetal Brain Male	brain

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