Variant report

Variant	rs2089915
Chromosome Location	chr11:68147581-68147582
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: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	chr11:68091340..68093779-chr11:68146559..68149604,3	MCF-7	breast:
2	chr11:68120512..68122790-chr11:68146125..68148650,2	MCF-7	breast:
3	chr11:68079123..68084573-chr11:68146394..68152402,13	MCF-7	breast:
4	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
5	chr11:68136064..68139002-chr11:68147497..68150205,3	MCF-7	breast:
6	chr11:68137895..68140646-chr11:68146197..68148192,3	MCF-7	breast:
7	chr11:67979631..67983951-chr11:68146778..68151134,8	MCF-7	breast:
8	chr11:68106405..68113140-chr11:68145593..68153963,20	MCF-7	breast:
9	chr11:68079577..68083546-chr11:68146426..68152842,7	MCF-7	breast:
10	chr11:68037967..68041128-chr11:68147422..68150374,4	MCF-7	breast:
11	chr11:68023332..68026179-chr11:68147030..68149659,2	MCF-7	breast:
12	chr11:68123132..68127007-chr11:68145812..68149123,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11574424	0.85[AFR][1000 genomes]
rs17149027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159533	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58500312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58779840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59682172	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60632461	1.00[EUR][1000 genomes]
rs61101778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61132569	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61539720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102311	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111735	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122741	1.00[AMR][1000 genomes]
rs73515038	1.00[EUR][1000 genomes]
rs73515041	1.00[EUR][1000 genomes]
rs7939653	1.00[EUR][1000 genomes]
rs7939672	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940269	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7947068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:68128200-68153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:68129800-68153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:68135200-68147600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:68135200-68153400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:68135200-68153600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:68136200-68153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:68136800-68152800	Weak transcription	Dnd41	blood
10	chr11:68137000-68156400	Weak transcription	K562	blood
11	chr11:68139600-68156400	Weak transcription	Hela-S3	cervix
12	chr11:68140000-68147600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:68140000-68147800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:68140000-68150200	Enhancers	Lung	lung
15	chr11:68140000-68153400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:68140200-68153600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:68141200-68148200	Weak transcription	Aorta	Aorta
18	chr11:68141400-68153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:68142000-68147600	Weak transcription	Fetal Thymus	thymus
20	chr11:68142400-68147600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:68142400-68147800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:68142600-68147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:68142600-68148000	Weak transcription	Fetal Brain Female	brain
24	chr11:68142600-68148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:68142800-68147600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:68142800-68147600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:68142800-68147600	Weak transcription	Brain Substantia Nigra	brain
29	chr11:68142800-68147600	Weak transcription	Esophagus	oesophagus
30	chr11:68142800-68147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:68142800-68147800	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:68142800-68153400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:68143000-68147600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:68143000-68147800	Enhancers	Adipose Nuclei	Adipose
35	chr11:68143000-68156400	Weak transcription	NHEK	skin
36	chr11:68143200-68148200	Weak transcription	Small Intestine	intestine
37	chr11:68143400-68147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:68143400-68147800	Weak transcription	Brain Anterior Caudate	brain
39	chr11:68143400-68153200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:68143600-68149400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:68143600-68153400	Weak transcription	Brain Germinal Matrix	brain
42	chr11:68144000-68148200	Enhancers	HUVEC	blood vessel
43	chr11:68144400-68147800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:68144400-68152800	Weak transcription	Thymus	Thymus
45	chr11:68144600-68147600	Enhancers	A549	lung
46	chr11:68144800-68150200	Enhancers	Placenta	Placenta
47	chr11:68145000-68148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:68145200-68148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:68145400-68148000	Weak transcription	Psoas Muscle	Psoas
50	chr11:68145600-68147600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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