Variant report

Variant	rs1791051
Chromosome Location	chr11:72865542-72865543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72865367..72868837-chr11:72873486..72875825,3	MCF-7	breast:
2	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
3	chr11:72853434..72856274-chr11:72864170..72865727,2	K562	blood:
4	chr11:72853241..72854928-chr11:72864648..72866839,2	MCF-7	breast:
5	chr11:72865432..72868225-chr11:72873076..72874981,2	K562	blood:
6	chr11:72863974..72865580-chr11:72865802..72867534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs56927892	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58895180	0.90[AMR][1000 genomes]
rs7105289	0.90[AMR][1000 genomes]
rs7108687	0.86[AMR][1000 genomes]
rs7944670	0.86[AMR][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	chr11:72854600-72865600	Weak transcription	Small Intestine	intestine
3	chr11:72854600-72871400	Enhancers	Spleen	Spleen
4	chr11:72854800-72872200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:72855000-72865600	Weak transcription	Adipose Nuclei	Adipose
6	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:72857800-72869000	Enhancers	Primary B cells from cord blood	blood
11	chr11:72859600-72867400	Weak transcription	Brain Substantia Nigra	brain
12	chr11:72859600-72868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:72859600-72870400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:72860200-72868000	Enhancers	Fetal Heart	heart
15	chr11:72860600-72865800	Enhancers	Left Ventricle	heart
16	chr11:72860800-72868200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:72861000-72867000	Weak transcription	Aorta	Aorta
18	chr11:72861200-72868200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:72861600-72869800	Enhancers	Fetal Thymus	thymus
20	chr11:72862600-72868800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:72862800-72866200	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:72862800-72871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:72862800-72872000	Enhancers	Fetal Intestine Large	intestine
24	chr11:72863000-72871800	Enhancers	Fetal Intestine Small	intestine
25	chr11:72863200-72866600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:72863200-72869200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:72863400-72866400	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:72863400-72868000	Enhancers	Primary T cells from cord blood	blood
29	chr11:72863400-72869000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr11:72863400-72869400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:72863600-72866400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:72863600-72867000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:72863600-72868400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:72863600-72870800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:72863800-72867000	Weak transcription	HSMM	muscle
36	chr11:72863800-72867400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:72863800-72867400	Enhancers	Thymus	Thymus
38	chr11:72863800-72871800	Enhancers	Placenta	Placenta
39	chr11:72864000-72866200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:72864000-72866200	Enhancers	Colonic Mucosa	Colon
41	chr11:72864400-72865800	Weak transcription	Right Atrium	heart
42	chr11:72864400-72866400	Enhancers	Liver	Liver
43	chr11:72864400-72867400	Weak transcription	Right Ventricle	heart
44	chr11:72864400-72867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:72864400-72871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:72864600-72865800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:72864600-72868200	Enhancers	HepG2	liver
48	chr11:72864600-72868400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:72864800-72865800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:72864800-72866000	Enhancers	Skeletal Muscle Female	skeletal muscle

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