Variant report

Variant	rs56251316
Chromosome Location	chr11:72454767-72454768
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72454001..72456109-chr11:72470086..72472095,2	MCF-7	breast:
2	chr11:72451471..72458825-chr11:72459585..72465738,9	MCF-7	breast:
3	chr11:72454556..72456545-chr11:72472426..72474862,2	K562	blood:
4	chr11:72452949..72455734-chr11:72495998..72498829,2	MCF-7	breast:
5	chr11:72451593..72454770-chr11:72503642..72506331,3	MCF-7	breast:
6	chr11:72433346..72436209-chr11:72454691..72456688,2	K562	blood:
7	chr11:72453064..72455584-chr11:72523759..72526805,3	K562	blood:
8	chr11:72450021..72454866-chr11:72522359..72525675,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs12287469	1.00[EUR][1000 genomes]
rs12419767	1.00[EUR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs519201	1.00[EUR][1000 genomes]
rs55816648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57512065	1.00[AMR][1000 genomes]
rs57712040	1.00[EUR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	1.00[AMR][1000 genomes]
rs58756839	1.00[EUR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59700555	1.00[EUR][1000 genomes]
rs60057195	1.00[EUR][1000 genomes]
rs61083756	1.00[EUR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs615703	1.00[EUR][1000 genomes]
rs61661445	1.00[EUR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543237	1.00[AMR][1000 genomes]
rs73543245	1.00[AMR][1000 genomes]
rs73543251	1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72446200-72455400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:72446600-72458000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr11:72446800-72456000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr11:72446800-72456200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr11:72446800-72459200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:72447400-72459000	Enhancers	Brain Hippocampus Middle	brain
7	chr11:72448200-72456400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:72448400-72457400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:72448600-72461000	Weak transcription	Dnd41	blood
11	chr11:72449200-72456000	Enhancers	Spleen	Spleen
12	chr11:72449400-72456200	Enhancers	Fetal Thymus	thymus
13	chr11:72449600-72462200	Weak transcription	HSMM	muscle
14	chr11:72449800-72462200	Weak transcription	Gastric	stomach
15	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:72450200-72455200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:72450400-72455400	Enhancers	Liver	Liver
18	chr11:72450400-72456400	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:72450600-72456200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:72451000-72456000	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:72451000-72461000	Weak transcription	Primary T cells from cord blood	blood
22	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
23	chr11:72451400-72455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:72451400-72456800	Weak transcription	NHDF-Ad	bronchial
25	chr11:72451400-72458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:72451800-72455200	Enhancers	Fetal Muscle Trunk	muscle
27	chr11:72452000-72455200	Enhancers	Colonic Mucosa	Colon
28	chr11:72452200-72456200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:72452200-72457200	Enhancers	Lung	lung
30	chr11:72452400-72456000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:72452400-72456200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:72452400-72456800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:72452400-72461000	Weak transcription	Pancreas	Pancrea
34	chr11:72452400-72461400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:72452800-72456000	Enhancers	Colon Smooth Muscle	Colon
36	chr11:72453000-72456000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:72453000-72458200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:72453000-72459000	Enhancers	K562	blood
39	chr11:72453000-72461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:72453200-72455400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:72453200-72456000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:72453200-72457000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:72453200-72461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:72453200-72462200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:72453200-72462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:72453400-72455200	Enhancers	Fetal Brain Female	brain
47	chr11:72453400-72461600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:72453400-72462000	Weak transcription	NHLF	lung
49	chr11:72453400-72462200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:72453600-72454800	Enhancers	Primary B cells from cord blood	blood

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