Variant report

Variant	rs7127818
Chromosome Location	chr11:17004090-17004091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
2	chr11:17003043..17005299-chr11:17227966..17230584,3	MCF-7	breast:
3	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
4	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
5	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
6	chr11:16978219..16978915-chr11:17003760..17004740,5	MCF-7	breast:
7	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:
8	chr11:16964831..16967704-chr11:17003456..17005667,3	MCF-7	breast:
9	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
10	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
11	chr11:16978219..16978915-chr11:17003760..17004705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000184669	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10766368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832707	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10832709	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs10832710	0.82[JPT][hapmap]
rs10832722	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024102	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024110	0.81[CEU][hapmap];0.90[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302207	0.83[JPT][hapmap]
rs2353369	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs34927905	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35248152	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4141194	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237715	0.84[ASN][1000 genomes]
rs6486334	0.82[JPT][hapmap]
rs7118307	0.83[ASN][1000 genomes]
rs7123383	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	nsv983149	chr11:17003386-17011615	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
2	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
5	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
8	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
9	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
10	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17001200-17004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:17001200-17004800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:17001400-17004200	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:17001400-17004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:17001400-17005000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:17001400-17005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:17001400-17005200	Enhancers	Brain Angular Gyrus	brain
18	chr11:17001400-17005400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:17001400-17010600	Enhancers	Placenta	Placenta
20	chr11:17001600-17005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:17001800-17006600	Weak transcription	Liver	Liver
22	chr11:17002000-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:17002000-17006000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:17002400-17004400	Enhancers	HMEC	breast
25	chr11:17002600-17004200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:17002600-17004200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:17002600-17004800	Enhancers	Fetal Muscle Leg	muscle
28	chr11:17002600-17005000	Enhancers	Fetal Kidney	kidney
29	chr11:17002800-17004200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:17002800-17004200	Enhancers	Brain Germinal Matrix	brain
31	chr11:17002800-17004200	Enhancers	Fetal Lung	lung
32	chr11:17002800-17004200	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:17002800-17004400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:17002800-17004800	Enhancers	Fetal Heart	heart
35	chr11:17002800-17005000	Enhancers	Right Atrium	heart
36	chr11:17003000-17004400	Flanking Active TSS	HepG2	liver
37	chr11:17003000-17004600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:17003000-17004800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr11:17003000-17004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:17003000-17009800	Enhancers	Brain Substantia Nigra	brain
41	chr11:17003200-17004200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr11:17003200-17004600	Enhancers	Left Ventricle	heart
43	chr11:17003200-17004600	Enhancers	Lung	lung
44	chr11:17003200-17004600	Enhancers	A549	lung
45	chr11:17003200-17005400	Enhancers	Gastric	stomach
46	chr11:17003400-17006000	Weak transcription	Esophagus	oesophagus
47	chr11:17003400-17006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:17003600-17005000	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:17003600-17005600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:17003600-17007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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