Variant report

Variant	rs17149180
Chromosome Location	chr11:86269066-86269067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86262717..86264689-chr11:86268387..86270580,2	K562	blood:
2	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12099044	1.00[ASN][1000 genomes]
rs12292032	1.00[ASN][1000 genomes]
rs1945141	1.00[ASN][1000 genomes]
rs2156532	1.00[ASN][1000 genomes]
rs34662182	1.00[ASN][1000 genomes]
rs4614483	1.00[ASN][1000 genomes]
rs55642252	1.00[ASN][1000 genomes]
rs56272084	1.00[ASN][1000 genomes]
rs58173252	1.00[ASN][1000 genomes]
rs58968600	1.00[ASN][1000 genomes]
rs59227416	1.00[ASN][1000 genomes]
rs59339534	1.00[ASN][1000 genomes]
rs59415795	1.00[ASN][1000 genomes]
rs61182121	1.00[ASN][1000 genomes]
rs61248687	1.00[ASN][1000 genomes]
rs61372386	1.00[ASN][1000 genomes]
rs7103556	1.00[ASN][1000 genomes]
rs7103642	1.00[ASN][1000 genomes]
rs72961775	1.00[ASN][1000 genomes]
rs73514376	1.00[ASN][1000 genomes]
rs73528019	1.00[ASN][1000 genomes]
rs7940549	0.81[GIH][hapmap];1.00[TSI][hapmap]
rs7941124	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:86263000-86269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:86263000-86269600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:86263200-86269400	Weak transcription	NHDF-Ad	bronchial
12	chr11:86263200-86269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:86263200-86270000	Weak transcription	NHLF	lung
14	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
15	chr11:86263200-86270600	Weak transcription	Gastric	stomach
16	chr11:86263400-86269200	Weak transcription	HMEC	breast
17	chr11:86263400-86269400	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:86263400-86269400	Weak transcription	Hela-S3	cervix
19	chr11:86263400-86269400	Weak transcription	HSMM	muscle
20	chr11:86263400-86270200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:86263400-86270200	Weak transcription	NH-A	brain
22	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
23	chr11:86263800-86269800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:86263800-86270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:86264200-86271200	Weak transcription	Brain Germinal Matrix	brain
26	chr11:86264400-86270200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:86265000-86269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:86265000-86269400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:86265000-86269600	Weak transcription	Colonic Mucosa	Colon
30	chr11:86265000-86270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:86265000-86270200	Weak transcription	Lung	lung
32	chr11:86265000-86270400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
34	chr11:86265200-86269400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:86265400-86269400	Weak transcription	Fetal Stomach	stomach
36	chr11:86266400-86278200	Weak transcription	A549	lung
37	chr11:86266600-86269400	Weak transcription	Ovary	ovary
38	chr11:86266600-86269400	Weak transcription	Psoas Muscle	Psoas
39	chr11:86266600-86269600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:86266600-86270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:86266800-86269400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:86267000-86269600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:86267200-86271000	Enhancers	Fetal Heart	heart
44	chr11:86267400-86270200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:86267600-86269400	Weak transcription	Spleen	Spleen
46	chr11:86267800-86270000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:86267800-86271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:86268000-86271000	Enhancers	HSMMtube	muscle
49	chr11:86268200-86269400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:86268200-86269600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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