Variant report

Variant	rs1783576
Chromosome Location	chr11:72858408-72858409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72851898..72855285-chr11:72856949..72861916,10	MCF-7	breast:
2	chr11:72851320..72855348-chr11:72855671..72860377,7	MCF-7	breast:
3	chr11:72856162..72862582-chr11:72862724..72869531,8	MCF-7	breast:
4	chr11:72853125..72855902-chr11:72856890..72859829,4	K562	blood:
5	chr11:72855684..72857699-chr11:72858058..72860516,3	MCF-7	breast:
6	chr11:72856496..72858577-chr11:72868139..72871657,5	K562	blood:

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]
rs12223361	1.00[AFR][1000 genomes]
rs573529	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58006230	1.00[EUR][1000 genomes]
rs7105776	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7108687	0.80[MEX][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	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72854000-72858800	Enhancers	Fetal Heart	heart
2	chr11:72854400-72858600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:72854400-72858600	Weak transcription	Brain Germinal Matrix	brain
4	chr11:72854400-72871000	Enhancers	Fetal Muscle Leg	muscle
5	chr11:72854600-72858800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:72854600-72858800	Weak transcription	Fetal Brain Male	brain
7	chr11:72854600-72858800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:72854600-72859000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:72854600-72859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:72854600-72859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:72854600-72859000	Weak transcription	Psoas Muscle	Psoas
12	chr11:72854600-72859000	Weak transcription	HMEC	breast
13	chr11:72854600-72859200	Enhancers	HSMMtube	muscle
14	chr11:72854600-72859200	Weak transcription	NHEK	skin
15	chr11:72854600-72861200	Enhancers	Fetal Thymus	thymus
16	chr11:72854600-72864200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:72854600-72865600	Weak transcription	Small Intestine	intestine
18	chr11:72854600-72871400	Enhancers	Spleen	Spleen
19	chr11:72854800-72858800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:72854800-72859000	Weak transcription	Lung	lung
21	chr11:72854800-72872200	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:72855000-72858800	Weak transcription	Stomach Mucosa	stomach
23	chr11:72855000-72859000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:72855000-72862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:72855000-72865600	Weak transcription	Adipose Nuclei	Adipose
26	chr11:72855000-72870200	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:72855200-72858600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:72855200-72858800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:72855200-72858800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:72855200-72858800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:72855200-72859000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:72855200-72859200	Enhancers	HepG2	liver
33	chr11:72855200-72862600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:72855200-72863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:72855200-72863400	Weak transcription	Colonic Mucosa	Colon
36	chr11:72855200-72863600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72855200-72863800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:72855200-72863800	Weak transcription	Thymus	Thymus
39	chr11:72855200-72864000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:72855200-72865200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:72855200-72870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:72855200-72871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:72855400-72861200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:72855400-72862800	Weak transcription	Fetal Intestine Large	intestine
45	chr11:72855800-72858800	Weak transcription	Placenta	Placenta
46	chr11:72855800-72859000	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:72856000-72863600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:72856000-72871400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:72856200-72859800	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:72856400-72859400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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