Variant report

Variant	rs7123383
Chromosome Location	chr11:17002985-17002986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
2	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
3	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
4	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:
5	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
6	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10766368	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832707	0.82[ASN][1000 genomes]
rs10832709	0.82[ASN][1000 genomes]
rs10832722	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024101	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024102	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024110	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575487	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2353369	0.81[ASN][1000 genomes]
rs34927905	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35248152	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4141194	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237715	0.84[ASN][1000 genomes]
rs7118307	0.83[ASN][1000 genomes]
rs7127818	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3328361	chr11:17002851-17003177	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
2	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
3	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
5	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
8	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:16998200-17003200	Weak transcription	Aorta	Aorta
10	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:16999000-17003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:16999600-17003000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
15	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
16	chr11:17000800-17003000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:17001000-17003000	Enhancers	HepG2	liver
19	chr11:17001200-17003400	Enhancers	Brain Hippocampus Middle	brain
20	chr11:17001200-17003600	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:17001200-17004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:17001200-17004800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:17001400-17004200	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:17001400-17004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:17001400-17005000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:17001400-17005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:17001400-17005200	Enhancers	Brain Angular Gyrus	brain
28	chr11:17001400-17005400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:17001400-17010600	Enhancers	Placenta	Placenta
30	chr11:17001600-17004000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:17001600-17005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:17001800-17003000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:17001800-17003800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:17001800-17004000	Enhancers	NH-A	brain
35	chr11:17001800-17006600	Weak transcription	Liver	Liver
36	chr11:17002000-17003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:17002000-17003200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:17002000-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:17002000-17006000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:17002200-17003200	Weak transcription	Gastric	stomach
41	chr11:17002200-17003200	Weak transcription	Lung	lung
42	chr11:17002200-17003200	Weak transcription	A549	lung
43	chr11:17002400-17003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:17002400-17004400	Enhancers	HMEC	breast
45	chr11:17002600-17003000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr11:17002600-17003600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:17002600-17003800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:17002600-17004000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:17002600-17004200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:17002600-17004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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