Variant report

Variant	rs3097323
Chromosome Location	chr11:93489357-93489358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11603364	0.85[CEU][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap]
rs607349	0.85[CEU][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap]
rs644306	0.92[GIH][hapmap]
rs7310	0.90[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv3367736	chr11:93489300-93489722	Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3097323	C11orf54	cis	multi-tissue	Pritchard
rs3097323	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475400-93490800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:93475400-93490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:93475600-93490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
6	chr11:93476000-93490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:93476000-93491400	Weak transcription	Osteobl	bone
8	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
9	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:93476200-93499800	Weak transcription	NH-A	brain
13	chr11:93477000-93491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:93477200-93490800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:93477200-93491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:93477200-93491400	Weak transcription	NHLF	lung
17	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
18	chr11:93478400-93490600	Weak transcription	Psoas Muscle	Psoas
19	chr11:93478600-93489600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:93478600-93489800	Weak transcription	K562	blood
21	chr11:93478600-93490400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:93478600-93490600	Weak transcription	Gastric	stomach
23	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
24	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:93479000-93490000	Weak transcription	Small Intestine	intestine
26	chr11:93481400-93491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:93482000-93499600	Weak transcription	NHEK	skin
28	chr11:93482400-93499200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:93482800-93498400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:93483000-93497800	Strong transcription	Liver	Liver
31	chr11:93483800-93489800	Weak transcription	HSMM	muscle
32	chr11:93483800-93494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:93484800-93498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:93485000-93491800	Strong transcription	Fetal Stomach	stomach
35	chr11:93485000-93498600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:93485000-93499800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:93485200-93491400	Strong transcription	Fetal Intestine Large	intestine
38	chr11:93485200-93497200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:93485200-93497600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:93485400-93498600	Strong transcription	Fetal Thymus	thymus
41	chr11:93485600-93492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:93486000-93499000	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:93486200-93497200	Weak transcription	Right Atrium	heart
44	chr11:93486600-93490800	Strong transcription	Fetal Kidney	kidney
45	chr11:93486600-93496000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:93486600-93497000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:93486600-93497000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:93486600-93497200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:93486600-93497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:93486600-93498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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