Variant report

Variant	rs17573753
Chromosome Location	chr11:93551796-93551797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93549611..93555766-chr11:93556424..93562226,8	K562	blood:
2	chr11:93535225..93537724-chr11:93550951..93552669,2	MCF-7	breast:
3	chr11:93461936..93464085-chr11:93550209..93551973,2	K562	blood:
4	chr11:93551501..93553047-chr11:93554651..93556227,2	K562	blood:

Variant related genes	Relation type
ENSG00000214376	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000206911	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17651231	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs34077705	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35805434	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17573753	SCARNA9	cis	parietal	SCAN
rs17573753	C11orf54	cis	parietal	SCAN
rs17573753	MED17	cis	cerebellum	SCAN
rs17573753	C11orf54	cis	cerebellum	SCAN
rs17573753	MED17	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93533000-93555600	Weak transcription	Small Intestine	intestine
2	chr11:93543000-93551800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:93543000-93552200	Weak transcription	Esophagus	oesophagus
4	chr11:93543000-93553200	Weak transcription	Aorta	Aorta
5	chr11:93543000-93554400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:93544600-93552800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:93546200-93551800	Weak transcription	Gastric	stomach
8	chr11:93546200-93552200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:93546200-93553200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:93546400-93553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:93546400-93553600	Weak transcription	HepG2	liver
12	chr11:93546400-93554200	Weak transcription	Colonic Mucosa	Colon
13	chr11:93546400-93566200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:93546600-93552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:93546600-93554200	Weak transcription	K562	blood
16	chr11:93547400-93553400	Weak transcription	Ovary	ovary
17	chr11:93547600-93552200	Weak transcription	NHEK	skin
18	chr11:93547800-93552800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:93547800-93553600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:93547800-93553600	Weak transcription	HSMMtube	muscle
21	chr11:93547800-93554200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:93547800-93554400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:93548000-93552600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:93548000-93555800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93548200-93552000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:93548200-93552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:93548200-93553600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:93548400-93552000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:93548400-93552400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:93548400-93553600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:93548400-93554200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:93548600-93552200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:93548800-93553200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:93549000-93552200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:93549000-93552400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:93549000-93553400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:93549200-93552000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:93549200-93552000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:93549200-93552000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:93549200-93552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:93549200-93552200	Weak transcription	Fetal Thymus	thymus
42	chr11:93549200-93552400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:93549200-93552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:93549200-93552800	Weak transcription	Fetal Intestine Large	intestine
45	chr11:93549200-93552800	Weak transcription	Lung	lung
46	chr11:93549200-93553200	Weak transcription	GM12878-XiMat	blood
47	chr11:93549200-93553600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:93549200-93553600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:93549200-93553600	Weak transcription	Brain Substantia Nigra	brain
50	chr11:93549200-93553800	Weak transcription	HSMM	muscle

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