Variant report

Variant	rs72984941
Chromosome Location	chr11:72861217-72861218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72859452..72862258-chr11:73086862..73088918,3	MCF-7	breast:
2	chr11:72851898..72855285-chr11:72856949..72861916,10	MCF-7	breast:
3	chr11:72859228..72862613-chr11:72866065..72868868,5	K562	blood:
4	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
5	chr11:72860209..72861971-chr11:72863919..72865454,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1025411	0.83[EUR][1000 genomes]
rs10732893	0.83[EUR][1000 genomes]
rs10736788	0.83[EUR][1000 genomes]
rs10736789	0.83[EUR][1000 genomes]
rs10736791	0.83[EUR][1000 genomes]
rs10898888	0.83[EUR][1000 genomes]
rs10898892	0.83[EUR][1000 genomes]
rs11824394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12099370	0.83[EUR][1000 genomes]
rs1380574	0.83[EUR][1000 genomes]
rs1380575	0.83[EUR][1000 genomes]
rs2060072	0.83[EUR][1000 genomes]
rs3903492	0.83[EUR][1000 genomes]
rs4373969	0.83[EUR][1000 genomes]
rs4594026	0.83[EUR][1000 genomes]
rs4944019	0.83[EUR][1000 genomes]
rs4944814	0.83[EUR][1000 genomes]
rs4944817	0.83[EUR][1000 genomes]
rs55787543	0.83[EUR][1000 genomes]
rs55838097	0.83[EUR][1000 genomes]
rs55888199	0.83[EUR][1000 genomes]
rs56133665	0.83[EUR][1000 genomes]
rs56154220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56283764	0.83[EUR][1000 genomes]
rs56316448	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57731198	0.83[EUR][1000 genomes]
rs58192366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59925945	0.83[EUR][1000 genomes]
rs60219481	0.83[EUR][1000 genomes]
rs60812177	0.83[EUR][1000 genomes]
rs60877622	0.83[EUR][1000 genomes]
rs6592495	0.83[EUR][1000 genomes]
rs6592502	0.83[EUR][1000 genomes]
rs7102424	0.83[EUR][1000 genomes]
rs7107817	0.83[EUR][1000 genomes]
rs7117786	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7118144	0.83[EUR][1000 genomes]
rs7122566	0.83[EUR][1000 genomes]
rs7130559	0.83[EUR][1000 genomes]
rs72984946	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72984947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72984948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7930535	0.83[EUR][1000 genomes]
rs7946019	0.83[EUR][1000 genomes]
rs7951614	0.83[EUR][1000 genomes]
rs898384	0.83[EUR][1000 genomes]
rs975261	0.83[EUR][1000 genomes]
rs994305	0.83[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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv386	chr11:72849097-72893807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72854400-72871000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:72854600-72864200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:72854600-72865600	Weak transcription	Small Intestine	intestine
4	chr11:72854600-72871400	Enhancers	Spleen	Spleen
5	chr11:72854800-72872200	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:72855000-72862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:72855000-72865600	Weak transcription	Adipose Nuclei	Adipose
8	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:72855200-72862600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:72855200-72863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:72855200-72863400	Weak transcription	Colonic Mucosa	Colon
12	chr11:72855200-72863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:72855200-72863800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:72855200-72863800	Weak transcription	Thymus	Thymus
15	chr11:72855200-72864000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:72855200-72865200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:72855400-72862800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:72856000-72863600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:72857800-72869000	Enhancers	Primary B cells from cord blood	blood
23	chr11:72858000-72863800	Enhancers	HSMM	muscle
24	chr11:72859200-72863800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:72859400-72861400	Weak transcription	HMEC	breast
26	chr11:72859400-72862800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:72859400-72863400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:72859400-72863600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:72859400-72863600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:72859400-72863800	Weak transcription	Placenta	Placenta
31	chr11:72859400-72864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:72859600-72861600	Weak transcription	NHEK	skin
33	chr11:72859600-72862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:72859600-72863200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:72859600-72863400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:72859600-72863600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:72859600-72864200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:72859600-72867400	Weak transcription	Brain Substantia Nigra	brain
39	chr11:72859600-72868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:72859600-72870400	Weak transcription	Brain Angular Gyrus	brain
41	chr11:72860000-72863800	Enhancers	HepG2	liver
42	chr11:72860000-72864400	Weak transcription	Liver	Liver
43	chr11:72860200-72864200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:72860200-72864600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:72860200-72865200	Enhancers	HSMMtube	muscle
46	chr11:72860200-72868000	Enhancers	Fetal Heart	heart
47	chr11:72860400-72861800	Enhancers	GM12878-XiMat	blood
48	chr11:72860600-72863000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:72860600-72863600	Weak transcription	Psoas Muscle	Psoas
50	chr11:72860600-72865800	Enhancers	Left Ventricle	heart

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