Variant report

Variant	rs72984948
Chromosome Location	chr11:72863995-72863996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72860209..72861971-chr11:72863919..72865454,2	K562	blood:
2	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
3	chr11:72863974..72865580-chr11:72865802..72867534,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1025411	1.00[EUR][1000 genomes]
rs10732893	1.00[EUR][1000 genomes]
rs10736788	1.00[EUR][1000 genomes]
rs10736789	1.00[EUR][1000 genomes]
rs10736791	1.00[EUR][1000 genomes]
rs10898888	1.00[EUR][1000 genomes]
rs10898892	1.00[EUR][1000 genomes]
rs11824394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099370	1.00[EUR][1000 genomes]
rs1380574	1.00[EUR][1000 genomes]
rs1380575	1.00[EUR][1000 genomes]
rs2060072	1.00[EUR][1000 genomes]
rs3903492	1.00[EUR][1000 genomes]
rs4373969	1.00[EUR][1000 genomes]
rs4594026	1.00[EUR][1000 genomes]
rs4944019	1.00[EUR][1000 genomes]
rs4944814	1.00[EUR][1000 genomes]
rs4944817	1.00[EUR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[EUR][1000 genomes]
rs55888199	1.00[EUR][1000 genomes]
rs56133665	1.00[EUR][1000 genomes]
rs56154220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56283764	1.00[EUR][1000 genomes]
rs56316448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57731198	1.00[EUR][1000 genomes]
rs58192366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59925945	1.00[EUR][1000 genomes]
rs60219481	1.00[EUR][1000 genomes]
rs60812177	1.00[EUR][1000 genomes]
rs60877622	1.00[EUR][1000 genomes]
rs6592495	1.00[EUR][1000 genomes]
rs6592502	1.00[EUR][1000 genomes]
rs7102424	1.00[EUR][1000 genomes]
rs7107817	1.00[EUR][1000 genomes]
rs7117786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118144	1.00[EUR][1000 genomes]
rs7122566	1.00[EUR][1000 genomes]
rs7130559	1.00[EUR][1000 genomes]
rs72984941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72984946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72984947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7930535	1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[EUR][1000 genomes]
rs898384	1.00[EUR][1000 genomes]
rs975261	1.00[EUR][1000 genomes]
rs994305	1.00[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:71 , 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	chr11:72855000-72865600	Weak transcription	Adipose Nuclei	Adipose
7	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:72855200-72864000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:72855200-72865200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:72857800-72869000	Enhancers	Primary B cells from cord blood	blood
14	chr11:72859400-72864000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:72859600-72864200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:72859600-72867400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:72859600-72868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:72859600-72870400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:72860000-72864400	Weak transcription	Liver	Liver
20	chr11:72860200-72864200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:72860200-72864600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:72860200-72865200	Enhancers	HSMMtube	muscle
23	chr11:72860200-72868000	Enhancers	Fetal Heart	heart
24	chr11:72860600-72865800	Enhancers	Left Ventricle	heart
25	chr11:72860800-72864600	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:72860800-72868200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:72861000-72864200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:72861000-72865000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:72861000-72867000	Weak transcription	Aorta	Aorta
30	chr11:72861200-72868200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:72861600-72864400	Enhancers	Right Ventricle	heart
32	chr11:72861600-72869800	Enhancers	Fetal Thymus	thymus
33	chr11:72862600-72868800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:72862800-72864400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:72862800-72866200	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:72862800-72871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:72862800-72872000	Enhancers	Fetal Intestine Large	intestine
38	chr11:72863000-72865200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:72863000-72871800	Enhancers	Fetal Intestine Small	intestine
40	chr11:72863200-72866600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:72863200-72869200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr11:72863400-72864200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:72863400-72864600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:72863400-72864800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:72863400-72865200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:72863400-72866400	Enhancers	Duodenum Mucosa	Duodenum
47	chr11:72863400-72868000	Enhancers	Primary T cells from cord blood	blood
48	chr11:72863400-72869000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:72863400-72869400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:72863600-72864000	Weak transcription	Colonic Mucosa	Colon

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