Variant report

Variant	rs17162146
Chromosome Location	chr11:72121530-72121531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:72121294-72124019	SK-N-SH	brain:	n/a	n/a
2	EP300	chr11:72121262-72124125	SK-N-SH	brain:	n/a	chr11:72123171-72123187 chr11:72123321-72123334 chr11:72122771-72122785 chr11:72123375-72123388 chr11:72122868-72122884

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71809631..71811512-chr11:72119227..72121573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256403	TF binding region
ENSG00000149357	Chromatin interaction

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

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

rs_ID	r²[population]
rs11235499	0.90[GIH][hapmap]
rs11819949	0.87[AMR][1000 genomes]
rs11821309	0.84[AFR][1000 genomes]
rs11824758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11825565	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11826227	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11827506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11828128	0.84[ASW][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs11828745	1.00[MEX][hapmap]
rs34264259	0.85[AMR][1000 genomes]
rs3741162	1.00[ASW][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs58007847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60900819	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7118697	0.88[YRI][hapmap]
rs7935699	0.83[CHD][hapmap]

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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72090400-72123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:72099200-72122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:72099600-72125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:72099600-72125000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:72105000-72122200	Weak transcription	GM12878-XiMat	blood
6	chr11:72105400-72124800	Weak transcription	A549	lung
7	chr11:72106200-72121800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:72106800-72136800	Weak transcription	Esophagus	oesophagus
9	chr11:72106800-72136800	Weak transcription	NHLF	lung
10	chr11:72107200-72122400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:72107400-72122600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:72107600-72122600	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:72107600-72122800	Weak transcription	Fetal Brain Female	brain
14	chr11:72107600-72122800	Weak transcription	Right Ventricle	heart
15	chr11:72107600-72125000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:72107800-72122000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:72107800-72125000	Weak transcription	Fetal Heart	heart
18	chr11:72108000-72122600	Weak transcription	Fetal Lung	lung
19	chr11:72108600-72123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:72109600-72137000	Weak transcription	Osteobl	bone
21	chr11:72109800-72139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:72110000-72134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:72110600-72139000	Weak transcription	Colonic Mucosa	Colon
24	chr11:72111800-72138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:72112000-72122200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:72112000-72124800	Weak transcription	HSMMtube	muscle
27	chr11:72113000-72125000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:72113000-72125000	Weak transcription	HSMM	muscle
29	chr11:72113200-72121800	Weak transcription	K562	blood
30	chr11:72113200-72122000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:72113200-72124800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:72113400-72122800	Weak transcription	Lung	lung
33	chr11:72113600-72122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:72114000-72121600	Weak transcription	Primary B cells from cord blood	blood
35	chr11:72114000-72122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:72114000-72122000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:72114000-72122200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:72114000-72122600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:72114000-72122600	Weak transcription	Fetal Stomach	stomach
40	chr11:72114000-72122600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:72114000-72122800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:72114000-72122800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:72114000-72123000	Weak transcription	Spleen	Spleen
44	chr11:72114000-72125000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:72114000-72125000	Weak transcription	Psoas Muscle	Psoas
46	chr11:72114000-72130000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:72114000-72132000	Weak transcription	Dnd41	blood
48	chr11:72114000-72138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:72114200-72122000	Weak transcription	Placenta	Placenta
50	chr11:72114200-72122800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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