Variant report

Variant	rs11558336
Chromosome Location	chr12:122629875-122629876
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122625141..122628118-chr12:122628631..122630468,2	MCF-7	breast:
2	chr12:122628543..122630862-chr12:122633835..122635395,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10847611	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10847853	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061610	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12368387	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28731286	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35946342	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4132934	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758655	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4758684	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56263064	0.85[AMR][1000 genomes];0.90[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
2	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
5	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
6	chr12:122611200-122630400	Strong transcription	Gastric	stomach
7	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
11	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
13	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:122615600-122630600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122615800-122630800	Weak transcription	Hela-S3	cervix
16	chr12:122616000-122631600	Weak transcription	Fetal Brain Male	brain
17	chr12:122616200-122632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122617800-122630000	Weak transcription	NH-A	brain
19	chr12:122620200-122630800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:122623000-122630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:122623200-122630600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:122625200-122631000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:122627400-122631200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:122627400-122636400	Weak transcription	K562	blood
26	chr12:122627600-122630000	Weak transcription	HMEC	breast
27	chr12:122627600-122630400	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:122627600-122633800	Weak transcription	Primary B cells from cord blood	blood
29	chr12:122627800-122630600	Strong transcription	Right Ventricle	heart
30	chr12:122627800-122636000	Weak transcription	Psoas Muscle	Psoas
31	chr12:122628000-122630000	Weak transcription	Aorta	Aorta
32	chr12:122628000-122631000	Weak transcription	Fetal Kidney	kidney
33	chr12:122628000-122633400	Weak transcription	Small Intestine	intestine
34	chr12:122628200-122630000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:122628200-122630000	Strong transcription	Lung	lung
36	chr12:122628200-122630600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:122628200-122631600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:122628200-122633400	Weak transcription	Stomach Mucosa	stomach
39	chr12:122628200-122633800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:122628400-122631200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:122628400-122631800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:122628400-122636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:122628600-122630000	Weak transcription	HSMMtube	muscle
45	chr12:122628600-122630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:122628600-122630400	Weak transcription	Left Ventricle	heart
47	chr12:122628600-122630400	Weak transcription	HSMM	muscle
48	chr12:122628600-122630600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:122628600-122630600	Weak transcription	NHEK	skin
50	chr12:122628600-122632800	Weak transcription	Placenta	Placenta

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