Variant report

Variant	rs6486333
Chromosome Location	chr11:17010672-17010673
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr11:16981332..16983715-chr11:17008993..17011024,2	MCF-7	breast:
4	chr11:16977974..16978869-chr11:17010653..17011499,5	MCF-7	breast:
5	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
6	chr11:16996304..16999163-chr11:17008949..17011648,2	MCF-7	breast:
7	chr11:17009264..17011620-chr11:17027061..17029636,2	MCF-7	breast:
8	chr11:16977971..16978941-chr11:17010604..17011618,29	MCF-7	breast:
9	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
10	chr11:17009150..17011174-chr11:17092627..17094497,2	MCF-7	breast:
11	chr11:16976889..16978865-chr11:17008807..17011495,3	MCF-7	breast:
12	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
13	chr11:17008749..17010885-chr11:17026366..17028840,2	MCF-7	breast:
14	chr11:17007115..17010774-chr11:17033404..17036243,6	MCF-7	breast:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10766366	0.91[EUR][1000 genomes]
rs10766367	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832707	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832709	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832710	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832712	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832713	0.83[AFR][1000 genomes]
rs11024101	0.81[ASN][1000 genomes]
rs11024102	0.81[ASN][1000 genomes]
rs11024103	0.96[ASN][1000 genomes]
rs11529141	0.91[EUR][1000 genomes]
rs1468489	0.83[AFR][1000 genomes]
rs2302207	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2353369	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4141194	0.82[ASN][1000 genomes]
rs4237715	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237716	0.91[EUR][1000 genomes]
rs4469869	0.91[EUR][1000 genomes]
rs4757468	0.91[EUR][1000 genomes]
rs4757470	0.91[EUR][1000 genomes]
rs4757472	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757473	0.89[EUR][1000 genomes]
rs4757474	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757475	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757476	0.91[EUR][1000 genomes]
rs6486332	0.88[AFR][1000 genomes]
rs6486334	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6486335	0.82[AFR][1000 genomes]
rs7118307	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7122802	0.91[EUR][1000 genomes]
rs7930890	0.81[AFR][1000 genomes]
rs7934567	0.91[EUR][1000 genomes]
rs7940499	0.83[AFR][1000 genomes]
rs7944490	0.91[EUR][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:47 , 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	chr11:17009200-17011000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:17009200-17015000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:17009400-17011000	Weak transcription	Right Ventricle	heart
15	chr11:17009400-17012400	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:17009400-17013200	Weak transcription	Right Atrium	heart
17	chr11:17009400-17014600	Weak transcription	Small Intestine	intestine
18	chr11:17009400-17015800	Weak transcription	Left Ventricle	heart
19	chr11:17009400-17032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:17009600-17011400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:17009600-17012200	Weak transcription	HepG2	liver
22	chr11:17009600-17017600	Weak transcription	Ovary	ovary
23	chr11:17009800-17011000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:17009800-17011200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:17009800-17011600	Genic enhancers	Fetal Intestine Large	intestine
26	chr11:17009800-17011800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:17009800-17012000	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:17009800-17013200	Weak transcription	Esophagus	oesophagus
29	chr11:17009800-17013400	Weak transcription	Brain Anterior Caudate	brain
30	chr11:17009800-17018000	Weak transcription	Spleen	Spleen
31	chr11:17009800-17018800	Weak transcription	A549	lung
32	chr11:17009800-17030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:17009800-17032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:17009800-17032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:17010000-17011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:17010000-17011200	Weak transcription	Fetal Heart	heart
37	chr11:17010000-17012200	Enhancers	Stomach Mucosa	stomach
38	chr11:17010000-17014400	Weak transcription	Liver	Liver
39	chr11:17010000-17014400	Weak transcription	Fetal Kidney	kidney
40	chr11:17010000-17015600	Weak transcription	Colonic Mucosa	Colon
41	chr11:17010000-17015800	Weak transcription	Lung	lung
42	chr11:17010000-17019000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:17010000-17023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:17010400-17014200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:17010600-17011000	Enhancers	GM12878-XiMat	blood
46	chr11:17010600-17011200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:17010600-17013000	Weak transcription	Rectal Mucosa Donor 29	rectum

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