Variant report

Variant	rs4141194
Chromosome Location	chr11:17011176-17011177
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16977908..16978974-chr11:17010587..17011618,48	MCF-7	breast:
2	chr11:17010526..17011427-chr11:69706034..69706819,2	MCF-7	breast:
3	chr11:16977974..16978869-chr11:17010653..17011499,5	MCF-7	breast:
4	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
5	chr11:16996304..16999163-chr11:17008949..17011648,2	MCF-7	breast:
6	chr11:17009264..17011620-chr11:17027061..17029636,2	MCF-7	breast:
7	chr11:16977971..16978941-chr11:17010604..17011618,29	MCF-7	breast:
8	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
9	chr11:16976889..16978865-chr11:17008807..17011495,3	MCF-7	breast:
10	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
11	chr11:17010780..17015542-chr11:17031310..17035315,5	MCF-7	breast:
12	chr11:17011062..17011590-chr11:17260704..17261432,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244398	Chromatin interaction
ENSG00000266493	Chromatin interaction
ENSG00000184669	Chromatin interaction
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10766368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832707	0.81[ASN][1000 genomes]
rs10832709	0.81[ASN][1000 genomes]
rs10832722	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11024101	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024110	0.85[CEU][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12575487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2353369	0.81[ASN][1000 genomes]
rs34927905	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35248152	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4237715	0.81[ASN][1000 genomes]
rs4757472	0.82[ASN][1000 genomes]
rs6486333	0.82[ASN][1000 genomes]
rs7118307	0.82[ASN][1000 genomes]
rs7123383	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127818	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]

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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
3	chr11:17004200-17011200	Weak transcription	Brain Germinal Matrix	brain
4	chr11:17004800-17034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:17005800-17012200	Enhancers	Gastric	stomach
6	chr11:17006200-17013200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17006400-17013400	Weak transcription	Fetal Stomach	stomach
8	chr11:17006400-17034000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:17007000-17014200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:17008200-17014600	Weak transcription	Fetal Lung	lung
11	chr11:17008400-17016000	Weak transcription	Thymus	Thymus
12	chr11:17009200-17015000	Weak transcription	Adipose Nuclei	Adipose
13	chr11:17009400-17012400	Genic enhancers	Fetal Intestine Small	intestine
14	chr11:17009400-17013200	Weak transcription	Right Atrium	heart
15	chr11:17009400-17014600	Weak transcription	Small Intestine	intestine
16	chr11:17009400-17015800	Weak transcription	Left Ventricle	heart
17	chr11:17009400-17032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:17009600-17011400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:17009600-17012200	Weak transcription	HepG2	liver
20	chr11:17009600-17017600	Weak transcription	Ovary	ovary
21	chr11:17009800-17011200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:17009800-17011600	Genic enhancers	Fetal Intestine Large	intestine
23	chr11:17009800-17011800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:17009800-17012000	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:17009800-17013200	Weak transcription	Esophagus	oesophagus
26	chr11:17009800-17013400	Weak transcription	Brain Anterior Caudate	brain
27	chr11:17009800-17018000	Weak transcription	Spleen	Spleen
28	chr11:17009800-17018800	Weak transcription	A549	lung
29	chr11:17009800-17030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:17009800-17032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:17009800-17032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:17010000-17011200	Weak transcription	Fetal Heart	heart
33	chr11:17010000-17012200	Enhancers	Stomach Mucosa	stomach
34	chr11:17010000-17014400	Weak transcription	Liver	Liver
35	chr11:17010000-17014400	Weak transcription	Fetal Kidney	kidney
36	chr11:17010000-17015600	Weak transcription	Colonic Mucosa	Colon
37	chr11:17010000-17015800	Weak transcription	Lung	lung
38	chr11:17010000-17019000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:17010000-17023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:17010400-17014200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:17010600-17011200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:17010600-17013000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:17011000-17011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:17011000-17011400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:17011000-17011400	Enhancers	Brain Substantia Nigra	brain
46	chr11:17011000-17011600	Enhancers	Right Ventricle	heart

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